Svensk definition

Störning i lysosomernas lagringsfunktion pga någon okänd molekylär defekt, varvid fås en utbredd utfällning av cystinkristaller i retikuloendoteliala celler.

Engelsk definition

A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Cystine Disease Cystine Diseases Cystinoses Lysosomal Cystine Transport Protein, Defect Of Cystinosin, Defect of Defect of Cystinosin Cystine Diathesis Cystine Diatheses Diatheses, Cystine Diathesis, Cystine Cystine Storage Disease Cystine Storage Diseases Storage Disease, Cystine Storage Diseases, Cystine Nephropathic Cystinosis Cystinosis, Nephropathic Cystinoses, Nephropathic Nephropathic Cystinoses