Cystinosis

Cystinosis [CTNS]: Cysteine transport defect leading to progressive renal failure. It is a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. The basic defect in cystinosis is impaired cystine transport across the lysosomal membrane. The features resulting from accumulation of cystine in the kidney are those of the Fanconi syndrome.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 100