Fanconi syndrome


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Related to Fanconi syndrome: Fanconi anemia

Fanconi syndrome

 [fan-ko´nē]
1. a rare hereditary disorder, transmitted as an autosomal recessive trait, characterized by pancytopenia, hypoplasia of the bone marrow, and patchy brown discoloration of the skin due to the deposition of melanin, and associated with multiple congenital anomalies of the musculoskeletal and genitourinary systems. Called also Fanconi anemia.
2. any of a group of diseases marked by dysfunction of the proximal renal tubules, with generalized hyperaminoaciduria, renal glycosuria, hyperphosphaturia, and bicarbonate and water loss; the most common cause is cystinosis, but it is also associated with other genetic diseases and occurs in idiopathic and acquired forms.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

Fan·co·ni syn·drome

(fahn-kō'nē), [MIM*227650-227660]
1. a type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family (an autosomal recessive trait in at least five nonallelic types [MIM*227650, 227600, 227645, 227646, 600901]); the anemia is normocytic or slightly macrocytic, macrocytes and target cells may be found in the circulating blood, and the leukopenia usually is due to neutropenia. Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia. Synonym(s): congenital aplastic anemia, congenital pancytopenia, Fanconi anemia, Fanconi pancytopenia
2. a group of conditions with characteristic disorders of renal tubular function, which may be classified as: cystinosis, an autosomal recessive disease of early childhood; adult Fanconi syndrome, a rare hereditary form, probably due to a recessive gene different from that found in cystinosis, characterized by the tubular malfunction seen in cystinosis and by osteomalacia, but without cystine deposit in tissues; acquired Fanconi syndrome, which may be associated with multiple myeloma or may result from chemical poisoning, injury, or persisting damage of proximal tubular epithelium due to various causes, leading to multiple defects of tubular function.
Farlex Partner Medical Dictionary © Farlex 2012

Fanconi syndrome

(1) Cystic fibrosis (see there), OMIM:219700.
(2) Fanconi anaemia (see there), OMIM:227650.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Fan·co·ni syn·drome

(fahn-kō'nē sin'drōm)
1. Synonym(s): Fanconi anemia.
2. A group of conditions with characteristic disorders of renal tubular function, which may be classified as: cystinosis, an autosomal recessive disease of early childhood; adult Fanconi syndrome, a rare hereditary form, probably due to a recessive gene different from that found in cystinosis, characterized by the tubular malfunction seen in cystinosis and by osteomalacia, but without cystine deposit in tissues; acquired Fanconi syndrome, which may be associated with multiple myeloma or may result from chemical poisoning, injury, or persisting damage of proximal tubular epithelium due to various causes, leading to multiple defects of tubular function.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Fanconi,

Guido, Swiss pediatrician, 1892-1979.
De Toni-Fanconi syndrome - see under De Toni
Debré-De Toni-Fanconi syndrome - Synonym(s): Fanconi syndrome
Fanconi-Albertini-Zellweger syndrome - syndrome characterized by multiple conditions including congenital heart defect, microdontia, metabolic acidosis, and bone-related problems as well as growth retardation.
Fanconi anemia - a type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies. Synonym(s): congenital aplastic anemia; congenital pancytopenia; Fanconi pancytopenia; Fanconi syndrome (1)
Fanconi pancytopenia - Synonym(s): Fanconi anemia (1)
Fanconi syndrome (1) - Synonym(s): Fanconi anemia; - (2) a group of conditions with characteristic disorders of renal tubular function.Synonym(s): Debré-De Toni-Fanconi syndrome
Lignac-Fanconi syndrome - see under Lignac
Wissler-Fanconi syndrome - see under Wissler
Medical Eponyms © Farlex 2012

Fan·co·ni syn·drome

(fahn-kō'nē sin'drōm) [MIM*227650227660, MIM*227650]
1. Type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family.
2. A group of conditions with characteristic disorders of renal tubular function.
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
Tenofovir-related Fanconi syndrome with nephrogenic diabetes insipidus in a patient with acquired immunodeficiency syndrome: the role of lopinavir-ritonavir-didanosine.
Fanconi Syndrome, characterized by normoglycemic glycosuria, hypophosphatemia, aminoaciduria, proteinuria, metabolic acidosis, and hypouricemia, may be caused by NtRTIs (like TDF) [16] and is widely reported in HIV-infected patients, also pediatric.
All the reabsorptive functions of the proximal tubular cells eventually cease, as the machinery necessary for this is no longer in the proximal tubular cells, creating a clinical picture of Fanconi syndrome similar to that seen in association with those light chains that lead to the formation of intracytoplasmic inclusions.
Fanconi syndrome. http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm
Acquired causes such as heavy metal poisoning or acquired Fanconi syndrome will have findings of renal tubular damage (1, 2).
Without appropriate safety advice, people may also take a larger prophylactic dose than recommended, as demonstrated by the case study linked to Fanconi syndrome. Excess protein or amino acid intake can lead to kidney damage.
(1956) A case of congenital cirrhosis of the liver with renal tubular defects akin to those in the Fanconi syndrome. Arch.
Pulmonary arteriovenous malformation in its acquired form usually occurs in juvenile cirrhosis, but has also been reported in patients with trauma, pulmonary schistosomiasis, mitral stenosis, actinomycosis, Fanconi syndrome, and metastatic thyroid carcinoma (3).
The kidney problems seen so far are similar to a disease known as "Fanconi Syndrome." Symptoms may include elevated levels in the blood of a natural substance known as creatinine.
Cadmium, a toxic metallic element, is known to be the cause of Itai-itai Disease, considered to be a type of acquired Fanconi Syndrome characterized by kidney dysfunction and osteomalacia, which plagued a number of people, mainly women, in Toyama Prefecture in the 1950s.

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