Abstract

SANCAKLI, Ozlem; KULU, Bahar  and  SAKALLIOGLU, Onur. A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis. Arch. argent. pediatr. [online]. 2018, vol.116, n.3, pp.e442-e444. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2018.e442.

Dent's disease is a rare X-linked recessive tubulopathy characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrolcalcinosis or nephrolithiasis, proximal tubular dysfunction and renal failure in adulthood. Females are carriers and usually mildly affected. Progression to endstage renal failure are at the 3rd-5th decades of life in 30-80% of affected males. In the absence of therapy targeting for the molecular defect, the current care of patients with Dent's disease is supportive, focusing on the prevention of nephrolithiasis and nephrocalcinosis. We present an 11-year-old child with nephrocalcinosis and nephrolithiasis caused by a new mutation at CLCN5 gene.

Keywords : Nephrolithiasis; Proximal renal tubular dysfunction; Nephrocalcinosis; Dent's disease; CLCN5.