Definition: 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. There 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.
Synonym(s): cystine storage disease
[cystine + G. -osis, condition]
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