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 ?
In our laboratory, an experimental model of cadmium-induced Fanconi syndrome was achieved by repetitive intraperitoneal administration of cadmium chloride in adult rats (42-44).
In the kidney, this produces tubular dysfunction, sometimes manifesting as Fanconi syndrome.
Fanconi syndrome in adults: a manifestation of a latent form of myeloma.
Adult Fanconi syndrome secondary to light chain gammopathy: clinicopathologic heterogeneity and unusual features in 11 patients.
Hypophosphatemic osteomalacia and adult Fanconi syndrome due to light-chain nephropathy: another form of oncogenous osteomalacia.
Complications of tenofovir therapy include lactic acidosis, Fanconi syndrome, immune reconstitution syndrome, severe acute exacerbation of hepatitis, decreases in bone mineral density, and severe hepatomegaly with steatosis.
Editorial comment: Fanconi syndrome and tenofovir--understanding proximal tubular function.
Renal impairment, including cases of acute renal failure and Fanconi syndrome (renal tubular injury with severe hypophosphatemia), has been reported among patients taking Viread, a component of Truvada (emtricitabine and tenofovir disoproxil fumarate).
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.
In cases associated with Fanconi syndrome, the most classical presentation includes tubular dysfunction with aminoaciduria, phosphaturia, and glucosuria.
Two morphologic patterns can be seen in these cases that correlate with the presence or absence of Fanconi syndrome.
On the hematoxylin-eosin stain, needle-shaped empty spaces can be noted in the cytoplasm of proximal tubular cells (Figure 4, A) in those cases associated with Fanconi syndrome.

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