Fanconi syndrome

Fanconi syndrome
Fan·co·ni syndrome -nē- also Fanconi's syndrome n a disorder of reabsorption in the proximal convoluted tubules of the kidney characterized esp. by the presence of glucose, amino acids, and phosphates in the urine

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a disorder of the proximal kidney tubules, which may be inherited or acquired and is most common in children. It is characterized by the urinary excretion of large amounts of amino acids, glucose, and phosphates (though blood levels of these substances are normal). Symptoms may include osteomalacia, rickets, muscle weakness, and cystinosis. Treatment is directed to the cause.
G. Fanconi

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1. a rare recessive disorder with a poor prognosis, characterized by pancytopenia, bone marrow hypoplasia, and patchy brown skin discoloration due to deposition of melanin, as well as multiple congenital anomalies of the musculoskeletal and genitourinary systems. Called also Fanconi anemia, pancytopenia, or panmyelopathy; congenital hypoplastic anemia; congenital pancytopenia; and pancytopenia-dysmelia s. 2. a general term for a group of diseases marked by dysfunction of the proximal renal tubules (see proximal renal tubular acidosis, under acidosis) with generalized hyperaminoaciduria, renal glycosuria, hyperphosphaturia, and bicarbonate and water loss. The most common cause is cystinosis (q.v.), but it is also associated with other genetic diseases and occurs in idiopathic and acquired forms. When unassociated with cystinosis, the disorder is also called de Toni-Fanconi syndrome.

Medical dictionary. 2011.

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