Article
Genetic basis of cystinosis in Turkish patients: a single-center experience.
Pediatric nephrology (Berlin, Germany) - 1 Jan 2012
Topaloglu Rezan, Vilboux Thierry, Coskun Turgay, Ozaltin Fatih, Tinloy Brad, Gunay-Aygun Meral, Bakkaloglu Aysin, Besbas Nesrin, van den Heuvel Lambert, Kleta Robert, Gahl William A
Abstract excerpt
We report the molecular findings for the CTNS gene in 12 Turkish cystinosis patients aged 7-29 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Cystinosis was diagnosed at age 1 month to 9 years. Seven patients reached end-stage renal failure at ages ranging from 6.5 to 15 years. Whereas three of the remaining five have renal Fanconi syndrome with proteinuria, two have had...
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