cystinosis

cystinosis (sis-ti-no´sis)

The most common of a group of diseases with characteristic renal tubular dysfunction disorders, termed collectively Fanconi's syndrome (2). There are various forms. An autosomal recessive hereditary disease of early childhood [MIM*219800] characterized by widespread deposits of cystine crystals throughout the body, including bone marrow and other tissues, with slight increase in the level of plasma cystine and cystinuria; this apparent abnormality in cystine metabolism is associated with a marked generalized aminoaciduria, glycosuria, polyuria, chronic acidosis, hypophosphatemia with vitamin D-resistant rickets, and often with hypokalemia; the latter abnormalities are probably due to deficient tubular reabsorption and are accompanied by a characteristic abnormality of the proximal convoluted tubule, shown by microdissection to be narrowed at the glomerular junction (swan-neck deformity). There is a milder form with onset in adolescence [MIM* 219900] and one with adult onset without kidney damage [MIM*219750]. Due to a defect in the transport of cystine across lysosomal membranes.cystine disease, cystine storage disease, De Toni-Fanconi syndrome, Lignac-Fanconi syndrome; [cystine + G. -osis, condition]

 

Browse Medical References:

[A] [B] [C] [D] [E] [F] [G] [H] [I] [J] [K] [L] [M]
[N] [O] [P] [Q] [R] [S] [T] [U] [V] [W] [X] [Y] [Z]