cystine storage disease

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 [sis´tēn, sis´tin]
a naturally occurring amino acid, the chief sulfur-containing component of the protein molecule. It is sometimes found in the urine and in the kidneys in the form of minute hexagonal crystals, frequently forming cystine calculus in the bladder.
cystine storage disease Fanconi's syndrome (def. 2).
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.


(sis'ti-nō'sis), [MIM*219800]
A lysosomal storage disorder with various forms, all with autosomal recessive inheritance. The nephropathic form of early childhood is characterized by widespread deposits of cystine crystals throughout the body, including the bone marrow, cornea, and other tissues, with mild elevation of plasma cystine and cystinuria; associated with a marked generalized aminoaciduria, glycosuria, polyuria, chronic acidosis, hypophosphatemia with vitamin D-resistant rickets, and often with hypokalemia; other extrarenal manifestations include photophobia and hypothyroidism; due to a defect in the transport of cystine across lysosomal membranes caused by mutation in the CTNS gene on 17 p. The re is a milder form with onset in adolescence [MIM*219900] and one with onset in adulthood without kidney damage [MIM*219750]; the latter two forms are thought to be allelic to the nephropathic form of early childhood.
[cystine + G. -osis, condition]
Farlex Partner Medical Dictionary © Farlex 2012

cystine storage disease

An inherited disease of cystine metabolism resulting in abnormal deposition of cystine in body tissues. The cause is disordered proximal renal tubular function. Clinically, the child fails to grow and develops rickets, corneal opacities, and acidosis.
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