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.

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.

Fanconi syndrome

(1) Cystic fibrosis (see there), OMIM:219700.
(2) Fanconi anaemia (see there), OMIM:227650.

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.

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

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.
References in periodicals archive ?
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.
After renal transplantation, fanconi syndrome does not develop in the recipients and cystinosis does not recur in the graft however, cystine deposition continues to accumulate in nonrenal tissue leading to multi-system dysfunction.
Light chain Fanconi syndrome (LCFS) is a clinical-pathologic entity characterized by accumulation of light chain crystals within proximal tubular cells.
According to a medical report by Dr Siham Al Sinani, Consultant, Paediatric Gastroenterologist and Hepatologist, at the SQU Hospital, Zeid has been diagnosed with Tyrosinemia type I with liver cirrhosis and improved renal fanconi syndrome with rickets.
Fanconi syndrome is seen unusually only in children and experimental animals.
Glomerular protein sieving and implications for renal failure in Fanconi syndrome.
New onset or worsening of renal impairment may also occur, including acute renal failure and Fanconi Syndrome.
In cases associated with Fanconi syndrome, the most classical presentation includes tubular dysfunction with aminoaciduria, phosphaturia, and glucosuria.
Patients with the common infantile form of cystinosis develop renal Fanconi syndrome 3-6 months after birth and end-stage renal failure before the age of 10 years.
New onset or worsening of renal impairment including cases of acute renal failure and Fanconi syndrome has been reported with the use of Viread.
1-3) Raman and Slyck (1) reported the crystalline structures in a patient with adult Fanconi syndrome and multiple myeloma.

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