The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

Nature Reviews Nephrology 13, 115 (2017). doi:10.1038/nrneph.2016.182 Authors: Stephanie Cherqui & Pierre J. Courtoy Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter, cystinosin, which results in an accumulation of cystine in all organs. Despite the ubiquitous expression of cystinosin, a
Source: Nature Reviews Nephrology - Category: Urology & Nephrology Authors: Tags: Review Source Type: research