Article
Dent disease in Poland: what we have learned so far?
International urology and nephrology - 1 Nov 2017
Zaniew Marcin, Mizerska-Wasiak Małgorzata, Załuska-Leśniewska Iga, Adamczyk Piotr, Kiliś-Pstrusińska Katarzyna, Haliński Adam, Zawadzki Jan, Lipska-Ziętkiewicz Beata S, Pawlaczyk Krzysztof, Sikora Przemysław, Ludwig Michael, Szczepańska Maria
Abstract excerpt
PURPOSE: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland. METHODS: A retrospective analysis of a national cohort with genetically confirmed diagnosis. RESULTS: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the...
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