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