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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12266165 | PMC |
| http://dx.doi.org/10.1016/j.ekir.2025.04.046 | DOI Listing |
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Cystinosis is a autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene, which encodes cystinosin, a cystine transporter. The defective function of cystinosin leads to cystine accumulation in the lysosome, resulting in progressive multi-organ damage. Cystinosis manifests early in life, with nephropathic cystinosis typically presenting in infancy with renal Fanconi syndrome, leading to chronic kidney disease and end-stage renal disease if untreated.
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