Genetic basis of cystinosis in Turkish patients: a single-center experience.
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ABSTRACT:
SUBMITTER: Topaloglu R
PROVIDER: S-EPMC3501933 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
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Genetic basis of cystinosis in Turkish patients: a single-center experience.
Topaloglu Rezan R Vilboux Thierry T Coskun Turgay T Ozaltin Fatih F Tinloy Brad B Gunay-Aygun Meral M Bakkaloglu Aysin A Besbas Nesrin N van den Heuvel Lambert L Kleta Robert R Gahl William A WA
Pediatric nephrology (Berlin, Germany) 20110724 1
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 kidney failure of varying degrees. Molecular analyses involved an initial multiplex p ...[more]
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