The Proximal Tubule in Cystinosis: Fight or Flight?

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The proximal tubule in cystinosis: fight or flight?

Although rare, nephropathic cystinosis is a devastating monogenic disorder leading to renal failure in the second decade of life. Fanconi syndrome, the initial renal manifestation of cystinosis in the young child, established the proximal tubule as a primary target of injury now recognized as the result of mutations in cystinosin (CTNS), the lysosomal cystine-proton cotransporter.1 A major chal...

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ژورنال

عنوان ژورنال: Journal of the American Society of Nephrology

سال: 2014

ISSN: 1046-6673,1533-3450

DOI: 10.1681/asn.2014010058