Polycystic Kidney Disease
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Polycystic Kidney Disease
Causes and symptoms
Autosomal dominant polycystic kidney disease (ADPKD, formerly called adult polycystic kidney disease) is the most common type of cystic disease of the kidneys. It is usually manifested during the third decade of life. Renal failure may appear by the fifth decade, with terminal failure occurring in the next ten years, although in some cases it never appears. Although there is rarely any liver dysfunction accompanying this disorder, cyst formation in the liver does occur.
Autosomal recessive polycystic kidney disease (ARPKD), formerly called childhood polycystic kidney disease, is diagnosed at birth or in the first ten years of life and is much less common than the autosomal dominant form. Both the kidney and the liver are involved, causing renal failure and liver failure with portal hypertension. Characteristic symptoms early in the process include pain, hematuria, urinary tract infection, kidney stones, and obstructive uropathy with anuria.
Treatment of both types of polycystic kidney disease is largely symptomatic. Renal dialysis and kidney transplantation during end-stage renal disease can prolong life but offer no cure. Families with histories of polycystic kidney disease require genetic counseling and may need help in coping with the prospect of future offspring afflicted with the disease.
polycystic kidneyA nonspecific term for two morphologically similar but clinically and genetically distinct conditions:
(1) Autosomal dominant (“adult") polycystic kidney disease (OMIM:173900);
(2) Autosomal recessive (“infantile") polycystic kidney disease (OMIM:263200).
Polycystic Kidney Disease
|Mean LOS:||10.8 days|
|Description:||SURGICAL: Kidney and Ureter Procedures for Non-Neoplasm With Major CC|
|Mean LOS:||4.5 days|
|Description:||MEDICAL: Other Kidney and Urinary Tract Diagnoses With CC|
Although inherited polycystic diseases are not the only types of cystic diseases of the kidney, all types are a major contributor to chronic renal failure. Infantile autosomal recessive polycystic kidney disease (RPK) and autosomal dominant polycystic kidney disease (ADPKD) are two types of inherited polycystic kidney disease. Infantile (RPK) disease affects both kidneys, leads to renal failure, and causes biliary dilation and fibrosis in the liver. The basic pathology of cyst development is a weakening of the basement membrane, which possibly is caused by an abnormality of the extracellular connective tissue cells. Adult-onset disease (ADPKD) is a bilateral disorder, although it may have asymmetrical progression with multiple expanding cysts that destroy renal function. Renal deterioration eventually leads to uremia, chronic renal failure, and the need for chronic renal dialysis.
Complications include liver, pancreatic, spleen, and lung cysts; aneurysms of the cerebral artery or abdominal aorta; colonic diverticula; and mitral valve prolapse. Approximately 40% of adult patients die of coronary or hypertensive heart disease. About 10% to 40% of people with ADPKD have berry aneurysms, and 9% die as a result of subarachnoid hemorrhages.
RPK and ADPKD are genetically inherited. In RPK, siblings of either sex have one chance in four of having the disease. ADPKD has a 100% incidence because it is an autosomal dominant trait. An average of half of the affected individuals have children with ADPKD.
ADPKD is an autosomal dominantly transmitted disorder with renal cysts, liver cysts, and intracranial aneurysm. It is caused by mutations in different genes, with one locus (PKD1) being responsible for the most common form. ADPKD accounts for approximately 90% of cases with onset between ages 30 and 40. The PKD form that is inherited in an autosomal recessive (ARPKD) pattern is much less common, with symptoms beginning in the earliest months of life or prenatally. ARPKD is caused by mutations in the fibrocystin gene.
Gender, ethnic/racial, and life span considerations
RPK always becomes apparent during childhood in boys and girls, usually before age 13. An infant born with active RPK usually dies within the first 2 months of life as a result of uremia or pulmonary complications. Renal failure and hypertension develop more slowly when the disease occurs later in childhood. Most patients with ADPKD are identified between ages 30 and 50, although newborns can be diagnosed with the disease. A neonate with ADPKD is likely to be stillborn or die from renal failure within 9 months. In most men and women with ADPKD, the disease progresses to end-stage renal failure by the time the patient reaches the age of 40 to 50. ADPKD is more severe in males than in females. There are no known racial and ethnic predispositions for polycystic kidney disease.
Global health considerations
Polycystic kidney disease is responsible for up to 10% of cases of end-stage renal disease in developed nations and is the most common cause of inherited end-sate renal disease. Few data are available for developing nations.
Children with RPK are apt to have a lengthy medical history, including multiple system complications and frequent hospitalizations. Because children with ADPKD usually experience cardiopulmonary complications, ask the parents about respiratory distress or increased blood pressure during checkups. The child can also have bleeding varices; ask the parents if the child has ever spit up blood.
When you take a history from adults with ADPKD who are approximately 40 years old, note that they may have one of two forms of presenting symptoms: pain or hypertension. Pain can occur in one or both kidneys and can vary from a vague sense of heaviness or a dull ache to severe, knifelike pain. Some patients describe flank pain from renal colic, bloody urine from the passage of renal calculi, signs of a urinary tract infection (burning or pain on urination, urinary frequency and urgency, fever), and gastrointestinal symptoms (nausea, vomiting, diarrhea, constipation) from compression by the enlarged kidneys. Patients with the second type of ADPKD often develop hypertension as the initial clinical sign. Changes in urinary output and concentration may accompany hypertension because of developing renal insufficiency. Some children have a history of urinary tract infections and perinephric abscesses.
The most common symptom is abdominal pain. The infant with RPK has pronounced epicanthal folds (vertical skin folds that extend from the root of the nose to the median end of the eyebrow), a pointed nose and small chin, and low-set ears. When you palpate the child’s kidneys, you are able to feel huge, tense, bilateral masses on both flanks. These children usually have multiple assessment findings from many malfunctioning organ systems, such as bleeding esophageal varices, pulmonary congestion, hypertension, and oliguria or anuria.
Adult patients with ADPKD may have a healthy appearance but may have urine that is foul-smelling, cloudy, or bloody because of a urinary tract infection. If the blood vessels that surround the kidney cysts rupture into the renal pelvis, the patient may have moderate to severe hematuria. The patient probably has had hypertension for years before any renal damage occurs. As the disease progresses, the patient develops a widening abdomen, which is tender when palpated. In advanced stages, palpation reveals grossly enlarged kidneys.
When a child is diagnosed with RPK, assess the siblings for the disease as well. With both types of polycystic disease, the patient and partner need genetic counseling. Children of parents diagnosed with ADPKD should have an ultrasound or genetic testing because approximately half also have ADPKD. There is a great strain on individuals and their families with both types of polycystic kidney disease because of the poor prognosis of children with RPK and the knowledge that ADPKD worsens throughout life.
|Test||Normal Result||Abnormality With Condition||Explanation|
|Genetic testing||No mutations on genes of interest||PKD1, PKD2, PKD3 genes may have mutations that lead to ADPKD||Genetic alterations lead to ADPKD|
|Renal ultrasound||Normal renal structure||Markedly enlarged kidney with dilated cysts||Cyst development leads to altered tubular epithelium, cell proliferation, and fluid secretion|
Other Tests: Computed tomography, magnetic resonance imaging, serum blood urea nitrogen and creatinine, urinalysis, glomerular filtration rate, intravenous pyelogram
Primary nursing diagnosis
DiagnosisPain (acute) related to compression of tissues, trauma to structures from calculi, inflammation, and infection
OutcomesComfort level; Pain control behavior; Pain: Disruptive effects; Pain level
InterventionsPain management; Analgesic administration; Positioning; Teaching: Prescribed activity/exercise; Teaching: Procedure/treatment; Teaching: Prescribed medication
Planning and implementation
Because there is no cure for polycystic kidney disease, care centers around alleviating symptoms and slowing the onset of renal impairment. Infants with RPK need management of airway, breathing, and circulation because of the extent of the multiple system involvement. Patients who survive past infancy need treatment for hypertension, congestive heart failure, renal failure, and hepatic failure.
As renal impairment progresses, patients require hemodialysis and renal transplantation. Allografts from siblings may be used only after appropriate genetic screenings have ruled out the possibility that the sibling also has the disease. For those with ADPKD, surgery may decrease the pressure caused by enlarging cysts. This procedure sometimes removes functioning nephrons and may contribute to the loss of renal function, but it also controls hypertension and decreases pain. An alternative is percutaneous aspiration of the cysts.
Infections need to be prevented when possible and treated vigorously because they are difficult to cure, and the residual scarring can further worsen the disease. Usually, the patient needs a diet high in carbohydrate content and with prescribed limits of fluid, sodium, potassium, phosphorus, and protein.
Medications are administered to manage complications: hypertension, infection, renal insufficiency, and end-stage renal disease. Analgesic drugs may be needed for control of the flank pain associated with enlarged kidneys, and hypertension may be controlled with angiotensin-converting enzyme inhibitors and angiotensin II receptor antagonist blockers or by calcium channel blockers.
One of the most important nursing roles is to promote the patient’s comfort. Encourage tepid baths, relaxation techniques, and other nonpharmacologic methods to improve comfort. Because many patients retain fluid from impaired renal regulatory mechanisms, fluid restriction may be necessary. Work with the patient to determine a personal schedule for fluid intake. If the patient desires, allot some of the fluid intake for ice chips. If possible, administer medications with meals to allow the patient to consolidate fluid intake.
The disease can be emotionally draining for the patient and family. Try to provide quiet time each day to talk with the patient. Answer questions, provide teaching materials, and listen to concerns. If the patient or family is not able to cope effectively, refer for counseling.
Teach the patient to use measures to prevent urinary tract infections. Explain the need to empty the bladder completely when voiding. Encourage female patients to wipe from front to back after having a bowel movement. Explain the mechanism of action of all antibiotics to the patient and stress the need to take them on schedule to maintain blood levels and to take all of them. Teach the patient to notify the primary healthcare provider if any of the following symptoms recur: burning, frequency, urgency, cloudy or red urine, foul-smelling urine.
Evidence-Based Practice and Health Policy
Helal, I., McFann, K., Reed, B., Yan, X.D., & Schrier, R.W. (2013). Changing referral characteristics of patients with autosomal dominant polycystic kidney disease. The American Journal of Medicine, 126(9), 832.e7-832.e11. doi 10.1016/j.amjmed.2012.12.018
- The availability of long-acting renin-angiotensin-aldosterone system inhibitors since the early 1990s has allowed for more aggressive blood pressure control and better preservation of kidney function in patients with polycystic kidney disease.
- An analysis of the clinical data of 837 patients treated during two different time periods, 1961 to 1990 and 1991 to 2011, revealed that patients treated during the later time point had significantly lower mean blood pressure (129/82 mmHg versus 142/91 mmHg; p < 0.001), less mean proteinuria (0.25 g/24 hr versus 0.90 g/24 hr; p < 0.0001), lower mean serum creatinine (1.6 mg/dL versus 4.02 mg/dL; p < 0.0001), and were less likely to have hematuria (41.5% versus 52.5%; p = 0.0087).
- Physical findings: Pain, fluid intake and output, daily weights, serial vital signs, laboratory findings (renal function tests and electrolytes in particular), appearance of urine
- Response to pain medications and nonpharmacologic methods of pain relief, fluid and dietary restrictions
- Presence of complications: Urinary tract infection, edema, cardiac disease, intracranial hemorrhage
Discharge and home healthcare guidelines
Teach the patient how to recognize a urinary tract infection and prevent its recurrence: Maintain fluid intake as allowed; complete perineal cleansing; avoid long, hot baths; empty the bladder completely. Teach the patient to notify the physician about the following because of possible deterioration in renal function: nausea, vomiting, and weight loss; changes in the pattern or urinary elimination; pruritus; headaches; a weight gain of more than 5 pounds in 1 week; edema; difficulty in breathing; and decreasing urine output. Stress the need to keep follow-up appointments. Teach the patient how to maintain any prescribed diet restrictions and include the family. Explain all medications, including the dosage, action, side effects, and route.