A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis

Sancakli O., Kulu B., Sakallioglu O.

ARCHIVOS ARGENTINOS DE PEDIATRIA, vol.116, no.3, 2018 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 116 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.5546/aap.2018.eng.e442
  • Journal Name: ARCHIVOS ARGENTINOS DE PEDIATRIA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Keywords: Nephrolithiasis, proximal renal tubular dysfunction, nephrocalcinosis, Dent's disease, CLCN5, GENETIC-HETEROGENEITY, HYPERCALCIURIA
  • Dokuz Eylül University Affiliated: No

Abstract

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 end-stage 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.