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Nephropathic cystinosis: an update on genetic conditioning

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Abstract

Cystinosis is an autosomal recessive lysosomal storage disorder caused by CTNS gene mutations. The CTNS gene encodes the protein cystinosin, which transports free cystine from lysosomes to cytoplasm. In cases of cystinosin deficiency, free cystine accumulates in lysosomes and forms toxic crystals that lead to tissue and organ damage. Since CTNS gene mutations were first described, many variations have been identified that vary according to geographic region, although the phenotype remains the same. Cystinosis is a hereditary disease that can be treated with the cystine-depleting agent cysteamine. Cysteamine slows organ deterioration, but cannot treat renal Fanconi syndrome or prevent eventual kidney failure; therefore, novel treatment modalities for cystinosis are of great interest to researchers. The present review aims to highlight the geographic differences in cystinosis—specifically in terms of its genetic aspects, clinical features, management, and long-term complications.

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  1. Department of Pediatric Nephrology, School of Medicine, Hacettepe University, Ankara, Turkey

    Rezan Topaloglu

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Topaloglu, R. Nephropathic cystinosis: an update on genetic conditioning. Pediatr Nephrol 36, 1347–1352 (2021). https://doi.org/10.1007/s00467-020-04638-9

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  • DOI: https://doi.org/10.1007/s00467-020-04638-9

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