Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.

doi:10.1093/ndt/gfl274

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Article

Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Sept 2006

Tosetto Enrica, Ghiggeri Gian Marco, Emma Francesco, Barbano Giancarlo, Carrea Alba, Vezzoli Giuseppe, Torregrossa Rossella, Cara Marilena, Ripanti Gabriele, Ammenti Anita, Peruzzi Licia, Murer Luisa, Ratsch Ilse Maria, Citron Lorenzo, Gambaro Giovanni, D'angelo Angela, Anglani Franca

Abstract excerpt

BACKGROUND: Dent's disease is an inherited tubulopathy caused by CLCN5 gene mutations. While a typical phenotype characterized by low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and progressive renal failure in various combinations often enables a clinical diagnosis, less severe sub-clinical cases may go under-diagnosed. METHODS: By single-strand conformation...

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PMID: 16822791
DOI: 10.1093/ndt/gfl274

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CLCN5

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