Fakülteler / Faculties

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A novel mutation c.2010delG of CLCN5 gene associated with Dent disease-1 in an 11-year-old male with nephrolithiasis and nephrocalcinosis
(2018) Kulu, B.; Sancakli, O.; Sakallioglu, O.
Dent's disease-1 (CLCN5 gene) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis with c.2010delG (or p.Asp671fs) mutation in CLCN5 gene which had not previously been reported in the Dent's disease-1. © 2018 National Academy of Pediatric Science and Innovation. All rights reserved.