chronic granulomatous disease

Chronic Granulomatous Disease 

Definition

Chronic granulomatous disease (CGD) is an inherited disorder in which white blood cells lose their ability to destroy certain bacteria and fungi.

Description

CGD is an X-linked genetic disease, meaning the defective gene is carried on the X chromosome (one of the sex chromosomes). Females have two copies of the X chromosome, whereas males have one X and one Y. CGD also is a recessive defect meaning that both copies of the chromosome must have the defect before it can be expressed. Females who have one X chromosome without the defect do not get this disease. Males, since they only have one X chromosome, get the disease if the defect is present. Thus, CGD affects mostly males.

CGD is an immunodeficiency disorder. Patients with immunodeficiency disorders suffer frequent infections. This happens because part of their immune system isn't working properly and the infectious microorganisms are not killed as rapidly as is normal. In CGD there is a defect in the ability of the white blood cells to kill bacteria and fungi. The white blood cells affected are phagocytic cells. They are part of the non-specific immune system and move via the blood to all parts of the body where they ingest and destroy microbes. Phagocytic cells are the first line of defense against microorganisms. In this disease, the decreased ability to kill microbes that they have ingested leads to a failure to effectively combat infectious diseases. Patients with CGD are subject to certain types of recurring infection, especially those of the skin, lungs, mouth, nose, intestines, and lymph nodes. With the exception of the lymph nodes, all of these areas are considered external tissues that come into contact with microorganisms from the environment. The lymph system drains all areas of the body to eliminate destroyed microorganisms and to assist the immune system in attacking microorganisms. Infections occur in the lymph nodes as a consequence of the normal draining function.

Causes and symptoms

The genetic defect that causes CGD reduces the amount of hydrogen peroxide and superoxide that white blood cells can make. These chemicals are important for killing bacteria and fungi. Without them the white blood cells ingest the microorganisms, but cannot kill them. In some cases, the microbes then replicate inside the white blood cell eventually causing its death.

Symptoms of the disease usually appear by age two. Frequent, recurrent infections of the skin, lungs (e.g. pneumonia), mouth (e.g. gingivitis), nose, intestines and lymph nodes are a hallmark of this disease. Patients may also develop multiple, recurrent liver abscesses and bone infections (osteomyelitis).

Diagnosis

Diagnosis is made based on the observation of a pattern of recurrent infections. Blood tests of lymphocyte and antibody functions will be normal. Tests of phagocytic cells will show normal ingestion, but a greatly decreased ability to kill bacteria.

Treatment

Early, aggressive treatment of all infections is critical to the successful management of CGD. Patients are treated with antibiotics and immune serum. Antibiotics are used at the first sign of infection. Immune serum is a source of antibodies that help fight infections. Interferon gamma is an experimental treatment for CGD that has shown promising results. There is no cure for the underlying cause of chronic granulomatous disease

Prognosis

Although antibiotics can treat most infections and may help prevent others, premature death may result, typically due to repeated lung infections.

Prevention

Since CGD is a hereditary disorder, it cannot currently be prevented. Patients and their families may benefit from genetic counseling. Preventive (prophylactic) antibiotics may help keep some infections from occurring, and good hygiene, especially rigorous skin and mouth care, can help prevent infections in these areas. Avoiding crowds or other people who have infections are also effective preventive measures.

Resources

Organizations

Chronic Granulomatous Disease Association. 2616 Monterey Road, San Marino, CA 91108-1646. (818) 441-4118.

National Organization for Rare Disorders. P.O. Box 8923, New Fairfield, CT 06812-8923. (800) 999-6673. http://www.rarediseases.org.

Key terms

Immunodeficiency — A weakening of the body's immune system.

Phagocytic cells — A cell that ingests microorganisms and foreign particles.

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disease /dis·ease/ (dĭ-zēz´) any deviation from or interruption of the normal structure or function of any body part, organ, or system that is manifested by a characteristic set of symptoms and signs and whose etiology, pathology, and prognosis may be known or unknown. See also entries under syndrome.

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acquired cystic disease of kidney  the development of cysts in the formerly noncystic failing kidney in end-stage renal disease.

Addison's disease  bronzelike pigmentation of the skin, severe prostration, progressive anemia, low blood pressure, diarrhea, and digestive disturbance, due to adrenal hypofunction.

Albers-Schönberg disease  osteopetrosis.

allogeneic disease  graft-versus-host reaction occurring in immunosuppressed animals receiving injections of allogeneic lymphocytes.

Alpers' disease  a rare disease of young children, characterized by neuronal deterioration of the cerebral cortex and elsewhere, progressive mental deterioration, motor disturbances, seizures, and early death.

alpha chain disease  heavy chain disease characterized by plasma cell infiltration of the lamina propria of the small intestine resulting in malabsorption with diarrhea, abdominal pain, and weight loss, possibly accompanied by pulmonary involvement.

Alzheimer's disease  progressive degenerative disease of the brain, of unknown cause; characterized by diffuse atrophy throughout the cerebral cortex with distinctive histopathological changes.

Andersen's disease  glycogen storage d., type IV.

apatite deposition disease  a connective tissue disorder marked by deposition of hydroxyapatite crystals in one or more joints or bursae.

Aran-Duchenne disease  spinal muscular atrophy.

arteriosclerotic cardiovascular disease  (ASCVD) atherosclerotic involvement of arteries to the heart and to other organs, resulting in debility or death; sometimes used specifically for ischemic heart disease.

arteriosclerotic heart disease  (ASHD) ischemic heart d.

autoimmune disease  any of a group of disorders in which tissue injury is associated with humoral or cell-mediated responses to the body's own constituents; they may be systemic or organ-specific.

Ayerza's disease  polycythemia vera with chronic cyanosis, dyspnea, bronchitis, bronchiectasis, hepatosplenomegaly, bone marrow hyperplasia, and pulmonary artery sclerosis.

Banti's disease  congestive splenomegaly.

Barlow disease  scurvy in infants.

Barraquer's disease  partial lipodystrophy.

Basedow's disease  Graves' d.

Batten disease , Batten-Mayou disease

1. Vogt-Spielmeyer d.

2. more generally, any or all of the group of disorders constituting neuronal ceroid lipofuscinosis.

Bayle's disease  general paresis.

Bazin's disease  erythema induratum.

Bekhterev's (Bechterew's) disease  ankylosing spondylitis.

Benson's disease  asteroid hyalosis.

Berger's disease  IgA glomerulonephritis.

Bernhardt's disease , Bernhardt-Roth disease meralgia paresthetica.

Besnier-Boeck disease  sarcoidosis.

Best's disease  congenital macular degeneration.

Bielschowsky-Janský disease  Janský-Bielschowsky d.

Binswanger's disease  a degenerative dementia of presenile onset caused by demyelination of the subcortical white matter of the brain.

black disease  a fatal disease of sheep, and sometimes of humans, in the United States and Australia, due to Clostridium novyi, marked by necrotic areas in the liver.

Blocq's disease  astasia-abasia.

Blount disease  tibia vara.

Boeck's disease  sarcoidosis.

Bornholm disease  epidemic pleurodynia.

Bowen's disease  a squamous cell carcinoma in situ, often due to prolonged exposure to arsenic; usually occurring on sun-exposed areas of skin. The corresponding lesion on the glans penis is termed erythroplasia of Queyrat.

Brill's disease  Brill-Zinsser d.

Brill-Symmers disease  giant follicular lymphoma.

Brill-Zinsser disease  mild recrudescence of epidemic typhus years after the initial infection, because Rickettsia prowazekii has persisted in body tissue in an inactive state, with humans as the reservoir.

broad beta disease  familial dysbetalipoproteinemia; named for the electrophoretic mobility of the abnormal chylomicron and very-low-density lipoprotein remnants produced.

Busse-Buschke disease  cryptococcosis.

Caffey's disease  infantile cortical hyperostosis.

calcium hydroxyapatite deposition disease  apatite deposition d.

calcium pyrophosphate deposition disease  (CPDD) an acute or chronic inflammatory arthropathy caused by deposition of calcium pyrophosphate dihydrate (CPPD) crystals in the joints, chondrocalcinosis, and crystals in the synovial fluid. Acute attacks are sometimes called pseudogout.

Calvé-Perthes disease  osteochondrosis of capitular epiphysis of femur.

Camurati-Engelmann disease  diaphyseal dysplasia.

Canavan disease , Canavan-van Bogaert-Bertrand disease spongy degeneration of the central nervous system.

Carrión's disease  bartonellosis.

Castleman disease  a benign or premalignant condition resembling lymphoma but without recognizable malignant cells; there are isolated masses of lymphoid tissue and lymph node hyperplasia, usually in the abdominal or mediastinal area.

cat-scratch disease  a usually benign, self-limited disease of the regional lymph nodes, caused by Bartonella henselae and characterized by a papule or pustule at the site of a cat scratch, subacute painful regional lymphadenitis, and mild fever.

celiac disease  a malabsorption syndrome precipitated by ingestion of gluten-containing foods, with loss of villous structure of the proximal intestinal mucosa, bulky, frothy diarrhea, abdominal distention, flatulence, weight loss, and vitamin and electrolyte depletion.

Chagas disease  trypanosomiasis due to Trypanosoma cruzi; its course may be acute, subacute, or chronic.

Charcot-Marie-Tooth disease  muscular atrophy of variable inheritance, beginning in the muscles supplied by the peroneal nerves and progressing to those of the hands and arms.

cholesteryl ester storage disease  (CESD) a lysosomal storage disease due to deficiency of lysosomal cholesterol esterase, variably characterized by some combination of hepatomegaly, hyperbetalipoproteinemia, and premature atherosclerosis.

Christmas disease  hemophilia B.

chronic granulomatous disease  frequent, severe infections of the skin, oral and intestinal mucosa, reticuloendothelial system, bones, lungs, and genitourinary tract associated with a genetically determined defect in the intracellular bactericidal function of leukocytes.

chronic obstructive pulmonary disease  (COPD) any disorder marked by persistent obstruction of bronchial air flow.

Coats' disease  exudative retinopathy.

collagen disease  any of a group of diseases characterized by widespread pathologic changes in connective tissue; they include lupus erythematosus, dermatomyositis, scleroderma, polyarteritis nodosa, thrombotic purpura, rheumatic fever, and rheumatoid arthritis. Cf. collagen disorder.

communicable disease  a disease the causative agents of which may pass or be carried from one person to another directly or indirectly.

Concato's disease  progressive malignant polyserositis with large effusions into the pericardium, pleura, and peritoneum.

constitutional disease  one involving a system of organs or one with widespread symptoms.

Cori's disease  glycogen storage d., type III.

coronary artery disease  (CAD) atherosclerosis of the coronary arteries, which may cause angina pectoris, myocardial infarction, and sudden death; risk factors include hypercholesterolemia, hypertension, smoking, diabetes mellitus, and low levels of high-density lipoproteins.

coronary heart disease  (CHD) ischemic heart d.

Cowden disease  a hereditary disease marked by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies.

Creutzfeldt-Jakob disease  a rare prion disease existing in sporadic, familial, and infectious forms, with onset usually in middle life, and having a wide variety of clinical and pathological features. The most commonly seen are spongiform degeneration of neurons, neuronal loss, gliosis, and amyloid plaque formation, accompanied by rapidly progressive dementia, myoclonus, motor disturbances, and encephalographic changes, with death occurring usually within a year of onset.

Crigler-Najjar disease  see under syndrome.

Crohn's disease  regional enteritis; a chronic granulomatous inflammatory disease usually in the terminal ileum with scarring and thickening of the wall, often leading to intestinal obstruction and formation of fistulas and abscesses.

Crouzon's disease  craniofacial dysostosis.

Cruveilhier's disease  spinal muscular atrophy.

Cushing's disease  Cushing's syndrome in which the hyperadrenocorticism is secondary to excessive pituitary secretion of adrenocorticotropic hormone.

cystic disease of breast  mammary dysplasia with formation of blue dome cysts.

cytomegalic inclusion disease , cytomegalovirus disease an infection due to cytomegalovirus and marked by nuclear inclusion bodies in enlarged infected cells. In the congenital form, there is hepatosplenomegaly with cirrhosis, and microcephaly with mental or motor retardation. Acquired disease may cause a clinical state similar to infectious mononucleosis. When acquired by blood transfusion, postperfusion syndrome results.

deficiency disease  a condition caused by dietary or metabolic deficiency, including all diseases due to an insufficient supply of essential nutrients.

degenerative joint disease  osteoarthritis.

Dejerine's disease , Dejerine-Sottas disease progressive hypertrophic neuropathy.

demyelinating disease  any condition characterized by destruction of the myelin sheaths of nerves.

disappearing bone disease  gradual resorption of a bone or group of bones, sometimes associated with multiple hemangiomas, usually in children or young adults and following trauma.

diverticular disease  a general term including the prediverticular state, diverticulosis, and diverticulitis.

Duchenne's disease 

1. spinal muscular atrophy.

2. progressive bulbar paralysis.

3. tabes dorsalis.

4. Duchenne's muscular dystrophy.

Duchenne-Aran disease  spinal muscular atrophy.

Duhring's disease  dermatitis herpetiformis.

Dukes' disease  a febrile disease of childhood marked by an exanthematous eruption, probably due to a virus of the Coxsackie-ECHO group.

Durand-Nicolas-Favre disease  lymphogranuloma venereum.

Duroziez's disease  congenital mitral stenosis.

Ebola virus disease  fatal acute hemorrhagic fever resembling Marburg virus disease but caused by Ebola virus, seen in the Sudan and Zaire.

Ebstein's disease  see under anomaly.

end-stage renal disease  chronic irreversible renal failure.

Erb's disease  Duchenne's muscular dystrophy.

Erb-Goldflam disease  myasthenia gravis.

Eulenburg's disease  paramyotonia congenita.

extrapyramidal disease  any of a group of clinical disorders marked by abnormal involuntary movements, alterations in muscle tone, and postural disturbances; they include parkinsonism, chorea, athetosis, etc.

Fabry's disease  an X-linked lysosomal storage disease of glycosphingolipid catabolism resulting from deficiency of α-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.

Farber's disease  a lysosomal storage disease due to defective ceramidase and characterized by hoarseness, aphonia, dermatitis, bone and joint deformities, granulomatous reaction, and psychomotor retardation.

Fazio-Londe disease  a rare type of progressive bulbar palsy occurring in childhood.

Feer disease  acrodynia.

fibrocystic disease of breast  a form of mammary dysplasia with formation of cysts of various size containing a semitransparent, turbid fluid that imparts a brown to blue color to the unopened cysts; believed due to abnormal hyperplasia of the ductal epithelium and dilatation of the ducts of the mammary gland, resulting from exaggeration and distortion of normal menstrual cycle–related breast changes.

fibrocystic disease of the pancreas  cystic fibrosis.

fifth disease  erythema infectiosum.

flint disease  chalicosis.

floating beta disease  familial dysbetalipoproteinemia.

focal disease  a localized disease.

foot-and-mouth disease  an acute, contagious viral disease of wild and domestic cloven-footed animals and occasionally humans, marked by vesicular eruption on the lips, buccal cavity, pharynx, legs, and feet.

Forbes' disease  glycogen storage d., type III.

fourth disease  Dukes' d.

fourth venereal disease  granuloma inguinale.

Fox-Fordyce disease  a persistent and recalcitrant, itchy, papular eruption, chiefly of the axillae and pubes, due to inflammation of apocrine sweat glands.

Freiberg's disease  osteochondrosis of the head of the second metatarsal bone.

Friedländer's disease  endarteritis obliterans.

Friedreich's disease  paramyoclonus multiplex.

functional disease  see under disorder.

Garré's disease  sclerosing nonsuppurative osteomyelitis.

gastroesophageal reflux disease  (GERD) any condition resulting from gastroesophageal reflux, characterized by heartburn and regurgitation; see also reflux esophagitis.

Gaucher's disease  a hereditary disorder of glucocerebroside metabolism, marked by the presence of Gaucher's cells in the marrow, and by hepatosplenomegaly and erosion of the cortices of long bones and pelvis. The adult form is associated with moderate anemia and thrombocytopenia, and yellowish pigmentation of the skin; in the infantile form there is, in addition, marked central nervous system impairment; in the juvenile form there are rapidly progressive systemic manifestations but moderate central nervous system involvement.

genetic disease  a general term for any disorder caused by a genetic mechanism, comprising chromosome aberrations (or anomalies), mendelian (or monogenic or single-gene) disorders, and multifactorial disorders.

gestational trophoblastic disease  see under neoplasia.

Gilbert disease  a familial, benign elevation of bilirubin levels without evidence of liver damage or hematologic abnormalities.

Gilles de la Tourette's disease  see under syndrome.

Glanzmann disease  see thrombasthenia.

glycogen storage disease  any of a number of rare inborn errors of metabolism caused by defects in specific enzymes or transporters involved in the metabolism of glycogen.

type I glucose-6-phosphatase deficiency: a severe hepatorenal form due to deficiency of the hepatic enzyme glucose-6-phosphatase, resulting in liver and kidney involvement, with hepatomegaly, hypoglycemia, hyperuricemia, and gout

type IA glycogen storage d., type I.

type IB a form resembling type I but additionally predisposing to infection due to neutropenia and to chronic inflammatory bowel disease; due to a defect in the transport system for glucose 6-phosphate.

type II a disorder due to deficiency of the lysosomal enzyme α-1,4,-glucosidase, the severe infant form resulting in generalized glycogen accumulation, with cardiomegaly, cardiorespiratory failure, and death, and a milder adult form being a gradual skeletal myopathy that sometimes causes respiratory problems.

type III a form due to deficiency of debrancher enzyme (amylo-1,6-glucosidase) in muscle, liver, or both; defects in the liver enzyme are characterized by hepatomegaly and hypoglycemia while defects in the muscle enzyme are characterized by progressive muscle wasting and weakness.

type IV brancher enzyme deficiency; cirrhosis of the liver, hepatosplenomegaly, progressive hepatic failure, and death due to deficiency of the glycogen brancher enzyme (1,4-α-glucan branching enzyme).

type V muscle cramps and fatigue during exercise due to a defect in the skeletal muscle isozyme of glycogen phosphorylase (muscle phosphorylase).

type VI hepatomegaly, mild to moderate hypoglycemia and mild ketosis, due to deficiency of the liver isozyme of glycogen phosphorylase (hepatic phosphorylase).

type VII muscle weakness and cramping after exercise due to deficiency of the muscle isozyme of 6-phosphofructokinase.

type VIII phosphorylase .

graft-versus-host (GVH) disease  disease caused by the immune response of histoincompatible, immunocompetent donor cells against the tissue of immunocompromised host, as a complication of bone marrow transplantation, or as a result of maternal-fetal blood transfusion, or therapeutic transfusion to an immunocompromised recipient.

Graves' disease  an association of hyperthyroidism, goiter, and exophthalmos, with accelerated pulse rate, profuse sweating, nervous symptoms, psychic disturbances, emaciation, and elevated basal metabolism.

Greenfield's disease  former name for the late infantile form of metachromatic leukodystrophy.

Gull's disease  atrophy of the thyroid gland with myxedema.

Günther disease  congenital erythropoietic porphyria.

H disease  Hartnup d.

Hailey-Hailey disease  benign familial pemphigus.

Hallervorden-Spatz disease  an autosomal recessive disorder caused by decreased numbers of myelin sheaths of the globus pallidus and substantia nigra, with accumulation of iron pigment, progressive rigidity beginning in the legs, choreoathetoid movements, dysarthria, and mental deterioration.

Hand's disease  Hand-Schüller-Christian d.

hand-foot-and-mouth disease  a mild, highly infectious viral disease of children, with vesicular lesions in the mouth and on the hands and feet.

Hand-Schüller-Christian disease  a chronic, progressive form of multifocal Langerhans cell histiocytosis, sometimes with accumulation of cholesterol, characterized by the triad of calvarial bone defects, exophthalmos, and diabetes insipidus.

Hansen's disease  leprosy.

Hartnup disease  a hereditary disorder of intestinal and renal transport of neutral α-amino acids, marked by a pellagra-like skin rash, with transient cerebellar ataxia, constant renal aminoaciduria, and other biochemical abnormalities.

Hashimoto's disease  a progressive disease of the thyroid gland with degeneration of its epithelial elements and replacement by lymphoid and fibrous tissue.

heavy chain diseases  a group of malignant neoplasms of lymphoplasmacytic cells marked by the presence of immunoglobulin heavy chains or heavy chain fragments; they are classified according to heavy chain type, e.g., alpha chain disease.

Heine-Medin disease  the major form of poliomyelitis.

hemoglobin disease  any of various hereditary molecular diseases characterized by abnormal hemoglobins in the red blood cells; the homozygous form is manifested by hemolytic anemia.

hemolytic disease of the newborn  erythroblastosis fetalis.

hemorrhagic disease of the newborn  a self-limited hemorrhagic disorder of the first few days of life, due to deficiency of vitamin K–dependent coagulation factors II, VII, IX, and X.

Hers' disease  glycogen storage d., type VI.

Heubner-Herter disease  the infantile form of celiac disease.

hip-joint disease  tuberculosis of the hip joint.

Hippel's disease  von Hippel's d.

Hirschsprung's disease  congenital megacolon.

His disease , His-Werner disease trench fever.

Hodgkin's disease  a form of malignant lymphoma marked clinically by painless, progressive enlargement of lymph nodes, spleen, and general lymphoid tissue; other symptoms may include anorexia, lassitude, weight loss, fever, pruritus, night sweats, and anemia. Reed-Sternberg cells are characteristically present. Four types have been distinguished on the basis of histopathologic criteria.

hoof-and-mouth disease  foot-and-mouth d.

hookworm disease  infection with the hookworm Ancylostoma duodenale or Necator americanus, whose larvae enter the body through the skin or in contaminated food or water and migrate to the small intestine where, as adults, they attach to the mucosa and ingest blood; symptoms may include abdominal pain, diarrhea, colic or nausea, and anemia.

hyaline membrane disease  a type of respiratory distress syndrome of the newborn in which there is formation of a hyaline-like membrane lining the terminal respiratory passages; extensive atelectasis is attributed to lack of surfactant.

hydatid disease  an infection, usually of the liver, due to larval forms of tapeworms of the genus Echinococcus, marked by development of expanding cysts.

hypophosphatemic bone disease  an inherited disorder resembling a mild form of X-linked hypophosphatemia, similarly due to a defect in renal tubular function but usually showing osteomalacia without radiographic evidence of rickets.

immune complex disease  local or systemic disease caused by the formation of circulating immune complexes and their deposition in tissue, due to activation of complement and to recruitment and activation of leukocytes in type III hypersensitivity reactions.

infectious disease  one due to organisms ranging in size from viruses to parasitic worms; it may be contagious in origin, result from nosocomial organisms, or be due to endogenous microflora from the nose and throat, skin, or bowel.

inflammatory bowel disease  any idiopathic inflammatory disease of the bowel, such as Crohn's disease and ulcerative colitis.

intercurrent disease  one occurring during the course of another disease with which it has no connection.

iron storage disease  hemochromatosis.

ischemic bowel disease  ischemic colitis.

ischemic heart disease  (IHD) any of a group of acute or chronic cardiac disabilities resulting from insufficient supply of oxygenated blood to the heart.

Janský-Bielschowsky disease  the late infantile form of neuronal ceroid lipofuscinosis, occurring between two and four years of age, characterized by abnormal accumulation of lipofuscin; beginning as myoclonic seizures and progressing to neurologic and retinal deterioration and death by age 8 to 12.

jumping disease  any of several culture-specific disorders characterized by exaggerated responses to small stimuli, muscle tics including jumping, obedience even to dangerous suggestions, and sometimes coprolalia or echolalia.

juvenile Paget disease  hyperostosis corticalis deformans juvenilis.

Kashin-Bek (Kaschin-Beck) disease  a disabling degenerative disease of the peripheral joints and spine, endemic in northeastern Asia; believed to be caused by ingestion of cereal grains infected with the fungus Fusarium sporotrichiella.

Katayama disease  schistosomiasis japonica.

Kawasaki disease  a febrile illness usually affecting infants and young children, with conjunctival injection, changes to the oropharyngeal mucosa, changes to the peripheral extremities including edema, erythema, and desquamation, a primarily truncal polymorphous exanthem, and cervical lymphadenopathy. It is often associated with vasculitis of the large coronary vessels.

Kienböck's disease  slowly progressive osteochondrosis of the lunate bone; it may affect other wrist bones.

kinky hair disease  Menkes' syndrome.

Köhler's bone disease 

1. osteochondrosis of the tarsal navicular bone in children.

2. thickening of the shaft of the second metatarsal bone and changes about its articular head, with pain in the second metatarsophalangeal joint on walking or standing.

Krabbe's disease  a lysosomal storage disease beginning in infancy, due to deficiency of β-galactosidase. Pathologically, there is rapidly progressive cerebral demyelination and large globoid bodies (swollen with accumulated cerebroside) in the white substance.

Kufs' disease  the adult form of neuronal ceroid lipofuscinosis, with onset prior to age 40; characterized by progressive neurologic deterioration but not blindness, excessive storage of lipofuscin, and shortened life expectancy;

Kümmell's disease  compression fracture of vertebra, with symptoms a few weeks after injury, including spinal pain, intercostal neuralgia, lower limb motor disturbances, and kyphosis.

Kyasanur Forest disease  a fatal viral disease of monkeys in the Kyasanur Forest of India, communicable to humans, in whom it produces hemorrhagic symptoms.

Kyrle's disease  a chronic disorder of keratinization marked by keratotic plugs that develop in hair follicles and eccrine ducts, penetrating the epidermis and extending down into the corium, causing foreign-body reaction and pain.

Lafora's disease  see under epilepsy.

Leber's disease 

1. Leber's hereditary optic neuropathy.

2. Leber's congenital amaurosis.

legionnaires' disease  an often fatal bacterial infection caused by Legionella pneumophila, not spread by person-to-person contact, characterized by high fever, gastrointestinal pain, headache, and pneumonia; there may also be involvement of the kidneys, liver, and nervous system.

Leiner's disease  a disorder of infancy characterized by generalized seborrhea-like dermatitis and erythroderma, severe intractable diarrhea, recurrent infections, and failure to thrive.

Leriche disease  post-traumatic osteoporosis.

Letterer-Siwe disease  a Langerhans cell histiocytosis of early childhood, of autosomal recessive inheritance, characterized by cutaneous lesions resembling seborrheic dermatitis, hemorrhagic tendency, hepatosplenomegaly, lymphadenitis, and progressive anemia. If untreated it is rapidly fatal. Called also acute disseminated Langerhans cell histiocytosis.

Libman-Sacks disease  see under endocarditis.

Lindau's disease , Lindau-von Hippel disease von Hippel-Lindau d.

Little's disease  congenital spastic stiffness of the limbs, a form of cerebral palsy due to lack of development of the pyramidal tracts.

Lobstein's disease  see osteogenesis imperfecta.

Lou Gehrig disease  amyotrophic lateral sclerosis.

Lowe disease  oculocerebrorenal syndrome.

Lutz-Splendore-Almeida disease  paracoccidioidomycosis.

Lyme disease  a recurrent multisystemic disorder caused by the spirochete Borrelia burgdorferi, the vectors being the ticks Ixodes scapularis and I. pacificus; usually initially characterized by lesions of erythema chronicum migrans, followed by various manifestations including arthritis of the large joints, myalgia, and neurologic and cardiac abnormalities.

lysosomal storage disease  an inborn error of metabolism with (1) a defect in a specific lysosomal enzyme; (2) intracellular accumulation of an unmetabolized substrate; (3) clinical progression affecting multiple tissues or organs; (4) considerable phenotypic variation within a disease.

MAC disease  complex d.

McArdle disease  glycogen storage d., type V.

mad cow disease  bovine spongiform encephalopathy.

Madelung's disease 

1. see under deformity.

2. see under neck.

maple bark disease  hypersensitivity pneumonitis in logging and sawmill workers due to inhalation of spores of a mold, Cryptostroma corticale, growing under the maple bark.

maple syrup urine disease  (MSUD) a hereditary enzyme defect in metabolism of branched chain amino acids, marked clinically by mental and physical retardation, severe ketoacidosis, feeding difficulties, and a characteristic maple syrup odor in the urine and on the body.

Marburg virus disease  a severe, often fatal, viral hemorrhagic fever first reported in Marburg, Germany, among laboratory workers exposed to African green monkeys.

Marchiafava-Micheli disease  paroxysmal nocturnal hemoglobinuria.

Marie-Bamberger disease  hypertrophic pulmonary osteoarthropathy.

Marie-Strümpell disease  ankylosing spondylitis.

Marie-Tooth disease  Charcot-Marie-Tooth d.

Mediterranean disease  thalassemia major.

medullary cystic disease  familial juvenile nephronophthisis.

Meniere's disease  deafness, tinnitus, and dizziness, in association with nonsuppurative disease of the labyrinth.

mental disease  see under disorder.

Merzbacher-Pelizaeus disease  Pelizaeus-Merzbacher d.

metabolic disease  one caused by a disruption of a normal metabolic pathway because of a genetically determined enzyme defect.

Meyer's disease  adenoid vegetations of the pharynx.

Mikulicz's disease  benign, self-limited lymphocytic infiltration and enlargement of the lacrimal and salivary glands of uncertain etiology.

Milroy disease  hereditary permanent lymphedema of the legs due to lymphatic obstruction.

Minamata disease  a severe neurologic disorder due to alkyl mercury poisoning, with permanent neurologic and mental disabilities or death; once prevalent among those eating contaminated seafood from Minamata Bay, Japan.

minimal change disease  subtle alterations in kidney function demonstrable by clinical albuminuria and the presence of lipid droplets in cells of the proximal tubules, seen primarily in young children.

mixed connective tissue disease  a combination of scleroderma, myositis, systemic lupus erythematosus, and rheumatoid arthritis, and marked serologically by the presence of antibody against extractable nuclear antigen.

Möbius disease  ophthalmoplegic migraine.

molecular disease  any disease in which the pathogenesis can be traced to a single molecule, usually a protein, which is either abnormal in structure or present in reduced amounts.

Mondor's disease  phlebitis affecting the large subcutaneous veins normally crossing the lateral chest wall and breast from the epigastric or hypochondriac region to the axilla.

Monge's disease  chronic mountain sickness.

Morquio's disease , Morquio-Ullrich disease see under syndrome.

motor neuron disease , motor system disease any disease of a motor neuron, including spinal muscular atrophy, progressive bulbar paralysis, amyotrophic lateral sclerosis, and lateral sclerosis.

Mycobacterium avium complex disease  MAC disease; systemic disease caused by infection with organisms of the Mycobacterium avium-intracellulare complex in patients with human immunodeficiency virus infection.

Newcastle disease  a viral disease of birds, including domestic fowl, transmissible to humans, characterized by respiratory, gastrointestinal or pulmonary, and encephalitic symptoms.

new variant Creutzfeldt-Jakob disease  (nvCJD) a variant of Creutzfeldt-Jakob disease having a younger age of onset than is seen in Creutzfeldt-Jakob disease, and caused by the same agent that causes bovine spongiform encephalopathy.

Nicolas-Favre disease  lymphogranuloma venereum.

Niemann's disease , Niemann-Pick disease a lysosomal storage disease due to sphingomyelin accumulation in the reticuloendothelial system; there are five types distinguished by age of onset, amount of central nervous system involvement, and degree of enzyme deficiency.

nil disease  minimal change d.

Norrie's disease  an X-linked disorder consisting of bilateral blindness from retinal malformation, mental retardation, and deafness.

notifiable disease  one required to be reported to federal, state, or local health officials when diagnosed, because of infectiousness, severity, or frequency of occurrence.

oasthouse urine disease  methionine malabsorption syndrome.

obstructive small airways disease  chronic bronchitis with irreversible narrowing of the bronchioles and small bronchi with hypoxia and often hypercapnia.

occupational disease  disease due to various factors involved in one's employment.

Oguchi's disease  a form of hereditary night blindness and fundus discoloration following light adaptation.

organic disease  one associated with demonstrable change in a bodily organ or tissue.

Osgood-Schlatter disease  osteochondrosis of the tuberosity of the tibia.

Osler's disease 

1. polycythemia vera.

2. hereditary hemorrhagic telangiectasia.

Owren's disease  parahemophilia.

Paget's disease 

1. (of bone) osteitis deformans.

2. (of breast) an intraductal inflammatory carcinoma of the breast, involving the areola and nipple.

3. an extramammary counterpart of Paget's disease (2), usually involving the vulva, and sometimes other sites, as the perianal and axillary regions.

Parkinson's disease  a slowly progressive form of parkinsonism, usually seen late in life, marked by masklike facies, tremor of resting muscles, slowing of voluntary movements, festinating gait, peculiar posture, muscular weakness, and sometimes excessive sweating and feelings of heat.

Parrot's disease  see under pseudoparalysis.

parrot disease  psittacosis.

Parry's disease  Graves' d.

Pelizaeus-Merzbacher disease  a progressive familial form of leukoencephalopathy, marked by nystagmus, ataxia, tremor, parkinsonian facies, dysarthria, and mental deterioration.

Pellegrini's disease , Pellegrini-Stieda disease calcification of the medial collateral ligament of the knee due to trauma.

pelvic inflammatory disease  (PID) any pelvic infection involving the upper female genital tract beyond the cervix.

periodontal disease  any disease or disorder of the periodontium.

Perthes' disease  osteochondrosis of capitular femoral epiphysis.

Peyronie's disease  induration of the corpora cavernosa of the penis, producing a painful fibrous chordee and penile curvature.

Pfeiffer's disease  infectious mononucleosis.

Pick's disease 

1. progressive atrophy of the cerebral convolutions in a limited area (lobe) of the brain, with clinical manifestations and course similar to Alzheimer's disease.

2. Niemann-Pick d.

polycystic kidney disease , polycystic disease of kidneys either of two unrelated heritable disorders marked by cysts in both kidneys: the autosomal dominant or adult form is more common, appears in adult life, and is marked by loss of renal function that can be either rapid or slow; the autosomal recessive or infantile form is more rare, may be congenital or may appear later in childhood, and almost always progresses to renal failure.

polycystic renal disease  polycystic kidney d..

Pompe's disease  glycogen storage d., type II.

Pott's disease  spinal tuberculosis.

primary electrical disease  serious ventricular tachycardia, and sometimes ventricular fibrillation, in the absence of recognizable structural heart disease.

prion disease  any of a group of fatal, transmissible neurodegenerative diseases, which may be sporadic, familial, or acquired, caused by abnormalities of prion protein metabolism resulting from mutations in the prion protein gene or from infection with pathogenic forms of the protein.

pulseless disease  Takayasu's arteritis.

Raynaud's disease  a primary or idiopathic vascular disorder, most often affecting women, marked by bilateral attacks of Raynaud's phenomenon.

Recklinghausen's disease 

1. neurofibromatosis.

2. (of bone) osteitis fibrosa cystica generalisata.

Refsum's disease  an inherited disorder of lipid metabolism, characterized by accumulation of phytanic acid, chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia, and persistent elevation of protein in cerebrospinal fluid.

remnant removal disease  familial dysbetalipoproteinemia.

reversible obstructive airway disease  a condition characterized by bronchospasm reversible by intervention, as in asthma.

rheumatic heart disease  the most important manifestation and sequel to rheumatic fever, consisting chiefly of valvular deformities.

rheumatoid disease  a systemic condition best known by its articular involvement (rheumatoid arthritis) but emphasizing nonarticular changes, e.g., pulmonary interstitial fibrosis, pleural effusion, and lung nodules.

Ritter's disease  dermatitis exfoliativa neonatorum.

Roger's disease  a ventricular septal defect; the term is usually restricted to small, asymptomatic defects.

runt disease  a graft-versus-host disease produced by immunologically competent cells in a foreign host that is unable to reject them, resulting in gross retardation of host development and in death.

Salla disease  an inherited disorder of sialic acid metabolism characterized by accumulation of sialic acid in lysosomes and excretion in the urine, mental retardation, delayed motor development, and ataxia.

Sandhoff's disease  a type of GM2 gangliosidosis resembling Tay-Sachs disease, seen in non-Jews, marked by a progressively more rapid course, and due to a defect in hexosaminidase, both isozymes A and B.

Schamberg's disease  a slowly progressive purpuric and pigmentary disease of the skin affecting chiefly the shins, ankles, and dorsa of the feet.

Schilder's disease  subacute or chronic leukoencephalopathy in children and adolescents, similar to adrenoleukodystrophy; massive destruction of the white substance of the cerebral hemispheres leads to blindness, deafness, bilateral spasticity, and mental deterioration.

Schönlein's disease  see under purpura.

secondary disease 

1. one subsequent to or as a consequence of another disease.

2. one due to introduction of incompatible, immunologically competent cells into a host rendered incapable of rejecting them by heavy exposure to ionizing radiation.

self-limited disease  one that runs a limited and definite course.

serum disease  see under sickness.

severe combined immunodeficiency disease  (SCID) see under immunodeficiency .

sexually transmitted disease  venereal disease; any of a diverse group of infections transmitted by sexual contact; in some this is the only important mode of transmission, and in others transmission by nonsexual means is possible.

sickle cell disease  any disease associated with the presence of hemoglobin S.

Simmonds' disease  see panhypopituitarism.

sixth disease  exanthema subitum.

small airways disease  chronic obstructive bronchitis with irreversible narrowing of the bronchioles and small bronchi. See also obstructive small airways d.

Smith-Strang disease  methionine malabsorption syndrome.

Spielmeyer-Vogt disease  Vogt-Spielmeyer d.

Steinert's disease  myotonic dystrophy.

Still's disease  juvenile rheumatoid arthritis.

storage disease  a metabolic disorder in which a specific substance (a lipid, a protein, etc.) accumulates in certain cells in unusually large amounts.

storage pool disease  a blood coagulation disorder due to failure of the platelets to release adenosine diphosphate (ADP) in response to aggregating agents; characterized by mild bleeding episodes, prolonged bleeding time, and reduced aggregation response to collagen or thrombin.

Strümpell's disease 

1. hereditary lateral sclerosis with the spasticity mainly limited to the legs.

2. cerebral poliomyelitis.

Strümpell-Leichtenstern disease  hemorrhagic encephalitis.

Strümpell-Marie disease  ankylosing spondylitis.

Sutton's disease 

1. halo nevus.

2. periadenitis mucosa necrotica recurrens.

3. granuloma fissuratum.

Swift's disease , Swift-Feer disease acrodynia.

Takayasu's disease  see under arteritis .

Tangier disease  a familial disorder characterized by a deficiency of high-density lipoproteins in the blood serum, with storage of cholesteryl esters in tissues.

Tarui's disease  glycogen storage d., type VII.

Tay-Sachs disease  (TSD) the most common GM2 gangliosidosis, seen almost exclusively in northeastern European Jews, characterized by infantile onset, doll-like facies, cherry-red macular spot, early blindness, hyperacusis, macrocephaly, seizures, hypotonia, and death in early childhood.

Thomsen's disease  myotonia congenita.

thyrotoxic heart disease  heart disease associated with hyperthyroidism, marked by atrial fibrillation, cardiac enlargement, and congestive heart failure.

transmissible neurodegenerative disease  prion d..

trophoblastic disease  gestational trophoblastic neoplasia.

tsutsugamushi disease  scrub typhus.

tunnel disease  decompression sickness.

uremic bone disease  renal osteodystrophy.

venereal disease  sexually transmitted d.

venoocclusive disease of the liver  symptomatic occlusion of the small hepatic venules caused by ingestion of Senecio tea or related substances, by certain chemotherapy agents, or by radiation.

vinyl chloride disease  acro-osteolysis resulting from exposure to vinyl chloride, characterized by Raynaud's phenomenon and skin and bony changes on the limbs.

Vogt-Spielmeyer disease  the juvenile form of neuronal ceroid lipofuscinosis with onset between ages 5 and 10 years; characterized by rapid cerebroretinal degeneration, excessive neuronal storage of lipofuscin, and death within 10 to15 years.

Volkmann's disease  congenital deformity of the foot due to tibiotarsal dislocation.

von Hippel's disease  hemangiomatosis confined principally to the retina; when associated with hemangioblastoma of the cerebellum, it is known as von Hippel-Lindau d.

von Hippel-Lindau disease  a hereditary condition marked by hemangiomas of the retina and hemangioblastomas of the cerebellum, sometimes with similar lesions of the spinal cord and cysts of the viscera; there may be neurologic symptoms such as seizures and mental retardation.

von Willebrand's disease  an autosomal dominant bleeding disorder characterized by prolonged bleeding time, deficiency of von Willebrand's factor, and often impairment of adhesion of platelets on glass beads, associated with epistaxis and increased bleeding after trauma or surgery, menorrhagia, and postpartum bleeding.

Waldenström's disease  osteochondrosis of the capitular femoral epiphysis.

Weber-Christian disease  nodular nonsuppurative panniculitis.

Werlhof's disease  idiopathic thrombocytopenic purpura.

Wernicke's disease  see under encephalopathy.

Westphal-Strümpell disease  hepatolenticular degeneration.

Whipple's disease  a malabsorption syndrome marked by diarrhea, steatorrhea, skin pigmentation, arthralgia and arthritis, lymphadenopathy, central nervous system lesions, and infiltration of the intestinal mucosa with macrophages containing PAS-positive material.

Whitmore's disease  melioidosis.

Wilson's disease  an inherited, progressive disorder of copper metabolism, with accumulation of copper in liver, brain, kidney, cornea, and other tissues; it is characterized by cirrhosis in the liver, degenerative changes in the brain, and a pigmented ring at the outer margin of the cornea.

Wolman's disease  a lysosomal storage disease due to deficiency of the lysosomal sterol esterase, occurring in infants, and associated with hepatosplenomegaly, adrenal steatorrhea, calcification, abdominal distention, anemia, and inanition.

woolsorter's disease  inhalational anthrax.

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chronic granulomatous disease

n.

A congenital defect in the ability of polymorphonuclear leukocytes to kill phagocytized bacteria, resulting in increased susceptibility to severe infections. Also called congenital dysphagocytosis.

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chronic granulomatous disease (CGD),

any of a group of immunodeficiencies of X-linked or autosomal-recessive inheritance, caused by failure of the respiratory or metabolic burst, resulting in deficient microbicidal ability. The clinical picture consists of frequent, severe, prolonged bacterial and fungal infections of the skin, oral and intestinal mucosa, reticuloendothelial system, bones, lungs, and genitourinary tract. The course of the disease varies: symptoms may appear in the neonate, with death during the first decade, or a patient may survive into middle age. The X-linked types seem to be associated with higher morbidity and mortality than the autosomal recessive types.

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chronic [kron´ik]

persisting for a long time; applied to a morbid state, designating one showing little change or extremely slow progression over a long period.

chronic airflow limitation (CAL) any pulmonary disorder occurring as a result of increased airway resistance or of decreased elastic recoil; the diseases most often associated are asthma, chronic bronchitis, and chronic pulmonary emphysema. Called also chronic obstructive pulmonary disease.

Chronic airflow limitation has the highest morbidity rate of any significant chronic pulmonary disorder in the United States and is the second most common cause of hospital admissions. It is difficult to estimate its exact incidence because most diseases of the respiratory tract are not reportable and there is some confusion in definition of terms related to diseases of this type. However, the Social Security Administration reports that CAL ranked only second to heart disease as the cause of disability in men over the age of 40. The incidence of CAL is increasing and, although not all specific causes are known, factors contributing to its development and affecting its degree of severity have been identified. Heavy cigarette smoking is probably the most important factor, and others are industrial pollution, occupational exposure to irritating inhalants, allergy, autoimmunity, genetic predisposition, and chronic infections.

Prevention is best accomplished through education of the public about the hazards of cigarette smoking and air pollution and the need for early detection and prompt treatment of respiratory disorders that could become chronic in nature. The American Lung Association is particularly interested in education of lay persons in these matters and in the prevention of all types of respiratory disorders. This agency, which has local offices distributed throughout the country, is an excellent source of information about prevention and the latest developments in the treatment of respiratory diseases.

Symptoms. This is an insidious disease that can develop into advanced lung damage almost before its victim is aware that the condition is serious. The early symptoms are shortness of breath upon exertion, a mild cough (sometimes called “smoker's cough”), which occurs most often in the morning, and easy fatigability that follows even minimal physical effort. Prompt treatment of these symptoms can forestall the more serious effects of extensive lung damage; however, the destruction of lung tissue and bronchial mucosa damage that has already occurred by the time these symptoms appear is irreversible.

As the disease progresses, the symptoms of dyspnea, weakness, and cough become more severe. The patient has difficulty expelling air from the lungs and the cough becomes more productive of thick, tenacious sputum. The patient looks anxious and drawn and may speak in short, hesitant sentences. Symptoms related to disturbances of the respiratory and circulatory systems and acid-base balance may appear as these complications develop.

Complications. Destructive involvement of respiratory structures and the resultant impairment of circulatory function can produce serious life-threatening complications. Among these are acute respiratory failure, disturbance in the acid-base balance (which can occur either as uncompensated respiratory acidosis or metabolic alkalosis), bronchopulmonary infections, cor pulmonale (the result of increased resistance in pulmonary circulation), pulmonary embolism (especially if polycythemia is severe), and peptic ulcer. blood gas analysis is helpful in evaluating effectiveness of blood gas exchange across alveolar walls. In severe chronic airflow limitation, the Pa_CO2 level is high while the Pa_O2 and the Sa_O2 levels are low.

Treatment and Patient Care. In general, treatment is concerned with restoring and maintaining existing lung function, relieving symptoms, and planning a program of rehabilitation tailored to accommodate the individual patient's physiologic needs, physical stamina, vocational needs, lifestyle, and personality. Specific measures of patient care are concerned with (1) initial and periodic evaluation of patient status, (2) maintenance of general health as much as possible, (3) prevention and control of infection, (4) improvement of ventilation, and (5) patient education.

Chronic airflow limitation is a disease that has no cure; its chronic nature requires an ongoing program of assessment and long-term care that is planned and revised as the patient's needs dictate. Whatever the patient care setting—acute care facility, out-patient clinic, long-term care facility, or home—the elements of care presented below are essential to the effective management of the condition.

Evaluation. Patient assessment begins with the taking of the patient's history and performing physical examination and lung function tests at the time the diagnosis is established. These measures, along with blood gas analysis at rest and after exercise, provide a baseline for periodic evaluation of the patient's status to determine the progress of the disease and the effectiveness of treatment.

When patients are informed about the purpose of the tests and therapy they are more likely to participate in the planned regimen of care and to become motivated to continue carrying out their responsibilities in the management of their illness. Those who work with the patient should clarify the goals and offer encouragement when they make progress toward those goals, no matter how slight the improvement might be. This implies, of course, that all members of the health care team have an understanding of the disease, the meaning of various test values, and the purpose of each aspect of care.

Maintenance of Health Status. It is important to communicate to these patients the concept of health status, particularly in regard to their position on the health-illness continuum. They cannot be completely disease-free or restored to their former state of health. They can, however, manage the disease symptoms for periods of time and some may even make progress toward a better state of health. For those patients who continue to deteriorate despite appropriate care, encouragement should be provided to maintain as much function as possible.

Poor appetite and the potential for dehydration are problems commonly associated with pulmonary disease. Purulent sputum, coughing, and fatigue can contribute to loss of interest in eating. Mouth breathing, increased respiratory rate, and frequent expectorating contribute to the loss of fluid.

Frequent oral hygiene and mouth care can help diminish mouth odor and unpleasant taste. A short period of rest just prior to each meal can help overcome the problem of fatigue. Meals should be spaced so that the stomach is not overloaded at any one time; five small meals, rather than three a day, can help avoid overfilling of the stomach and interference with breathing. Postural drainage and similar procedures should not be done on a full stomach, nor should they be scheduled just before a meal. Adequate hydration can be accomplished by an intake of at least 3000 ml of liquid each day. Unless contraindicated, this should include bouillon, fruit juices, and other liquids the patient finds enjoyable and refreshing.

Physical activity may be severely limited by CAL because of inadequate ventilation and decreased circulation. As with all other aspects of patient care, plans to increase exercise tolerance and promote physical activity should be designed according to the patient's cardiopulmonary status. Techniques to promote muscular relaxation and breathing control are the first step, followed by gradual increase in activity as the patient's progress and general physical condition permit.

Adequate rest is essential, but the hazards of immobility must be avoided, especially in patients who are fearful that any physical activity may precipitate an exhausting episode of coughing and dyspnea. The goal is to provide sufficient rest so that the body's natural restorative processes can work, but to avoid long periods of sleeping and lying in bed during the day.

When the patient's cardiopulmonary condition is such that bed rest is prescribed, care is taken to avoid complete physical inactivity, which will only serve to increase problems of inadequate ventilation and muscle weakness. Proper positioning is essential and should be such that the neck is extended, with the chin well off the chest. Support under the thighs while the patient is supine will release tension on abdominal muscles, thereby facilitating movement of the diaphragm for deep breathing and effective coughing. The arms and hands should also be supported on pillows and positioned away from the sides to allow for maximum lung expansion without elevation of the upper chest. A foot board is placed so as to maintain good posture, promote comfort, and ensure good muscle tone in the legs and feet.

Prevention and Control of Infection. Acute respiratory infection can be fatal in patients with chronic airflow limitation. Chronic infections inflict further damage to the respiratory structures, lead to increased debilitation, and increase the likelihood of severe complications. Both acute and chronic infections produce increased secretions in the air passages, which further restrict the flow of air.

Contact with others who have an upper respiratory infection should be avoided, as should being in large crowds during the season when such infections are common. A high level of resistance should be maintained through good personal hygiene and adequate nutrition. Vaccines to guard against influenza are recommended. Patients should be taught to watch for changes in color and amount of sputum. If a change in sputum or any other symptoms of infection appear, this should be reported.

Improvement of Ventilation. It is obvious that measures to improve ventilation in the patient with CAL are of primary importance, and perhaps that is why so many ways have been devised to facilitate the flow of air to and from the lungs. Breathing is most difficult during the expiratory phase, making it difficult to remove trapped air and secretions. In addition, the bronchial walls are weakened in patients with emphysema and are subject to collapse. Health status and physical condition at the time the technique is used will affect the choice of method and its effectiveness.

Hydration is considered especially valuable in improvement of ventilation. Inhaled air should be moist so as to thin the secretions for removal and soothe the irritated mucous membranes. This can be accomplished through the use of vaporizers and humidifiers, either for environmental humidification in the patient's room or in conjunction with oxygen therapy and the administration of aerosols. Oral intake of fluids is also important. Bronchodilators, usually in the form of aerosols, sometimes as oral medications, are usually prescribed. The aerosol method of delivery depends on the ability of the patient to breathe deeply so that the medication reaches the lower segments of the respiratory tract.

Controlled deep breathing patterns are especially helpful in emptying the lungs and providing adequate ventilation. The patient with CAL is taught to expand the lower chest and to use the accessory muscles and diaphragm to improve the breathing pattern. Performance of these breathing patterns is important because patients probably are not in the habit of breathing in the most effective manner, making optimum use of remaining pulmonary function. The patient is taught slow, controlled, and steady breathing. Respiratory effort should be concentrated on slow expiratory flow through parted or pursed lips. Pushing the air out of the lungs too forcefully can bring on collapse of the airway structures. During instruction, the caregiver watches for signs of exhaustion and warns against overdoing the deep breathing until the patient has adjusted to it. A correct breathing pattern should be coordinated with all of the patient's daily activities so that it becomes habitual and is done without too much thought.

Effective coughing does not come easily to patients with this condition. They may have experienced too many episodes in which a dry hacking cough has caused exhaustion, increased dyspnea, and prevented removal of tenacious sputum from the air passages. They must be convinced that, when done correctly, coughing can remove mucous plugs and relieve rather than produce dyspnea. Patients should be warned that explosive coughing is not very effective, can damage the airways, and can lead to exhaustion. The objective of coughing is to move secretions upward gradually so that they can be expectorated.

Postural drainage is also valuable in facilitating the removal of mucus from the air passages. The various maneuvers involved in this procedure are designed to take advantage of gravity flow as a means of clearing specified segments of the air passages when normal air flow is not sufficient to move secretions or stimulate the cough reflex. Chest percussion and vibration may be employed during postural drainage to loosen secretions. oxygen therapy is used as a supportive measure when there is decreased oxygenation of arterial blood. It can be administered to ambulatory patients being cared for at home. Blood gas analysis is an excellent guide in determining the need for initiating oxygen therapy and for monitoring dosage.

Patient Education. As with all chronic diseases that require long-term planning and management, patient education is of primary importance in successful execution of the plan. Each of the measures previously described involves instruction of the patient and family, particularly when care is carried out on an outpatient basis. The patient should be told why it is necessary to stop smoking, avoid other irritating inhalants, carry out good health practices, take medication only as prescribed, and faithfully perform techniques to improve ventilation. Those patients who follow the exercises prescribed for them often find they can lead more active lives than formerly. Exertional dyspnea becomes less severe and complications from infections caused by bacteria in secretions formerly trapped in the respiratory tract are less frequent. Active participation in a program of self-care gives these patients a sense of control and improves their self-esteem.

chronic fatigue syndrome (chronic fatigue and immunodeficiency syndrome) persistent debilitating fatigue of recent onset, with reduction of physical activity to less than half of usual, accompanied by some combination of muscle weakness, sore throat, mild fever, tender lymph nodes, headaches, and depression, with the symptoms not attributable to any other known causes. Its nature is controversial; viral infection (including Epstein-Barr virus and human herpesvirus-6) may be associated with it, but no causal relationship has been demonstrated. A number of names have been used for this syndrome, including Iceland disease and benign myalgic encephalomyelitis.

chronic granulomatous disease chronic suppurative lymphadenitis, eczematoid dermatitis, enlargement of the liver and spleen, and chronic pulmonary disease associated with a genetically determined defect in the intracellular bactericidal function of leukocytes.

chronic obstructive lung disease (COLD) (chronic obstructive pulmonary disease (COPD)) chronic airflow limitation.

chronic regional pain syndrome reflex sympathetic dystrophy.

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chronic granulomatous disease

Immunology Any of a heterogeneous group of inherited (²⁄₃ are X-linked;¹⁄₃ AR) phagocytic defects, characterized by recurrent and potentially fatal pyogenic infections of early onset; PMNs ingest pathogens, but don't produce superoxide and microbicidal oxygen intermediates–the respiratory 'burst'–due to defective NADPH oxidase, resulting in recurrent infections by catalase-bacteria–eg, S aureus, Enterobacteriaceae, Aspergillus spp, and fungi with sinusitis, pneumonia, abscess formation; ♂:♀ ratio 4:1 Management IFN-γ may ↓ serious infection by 'boosting' the immune system