Pediatric Nephrology

, Volume 26, Issue 5, pp 693–704

Dent’s disease: clinical features and molecular basis

  • Félix Claverie-Martín
  • Elena Ramos-Trujillo
  • Víctor García-Nieto
Educational Review

DOI: 10.1007/s00467-010-1657-0

Cite this article as:
Claverie-Martín, F., Ramos-Trujillo, E. & García-Nieto, V. Pediatr Nephrol (2011) 26: 693. doi:10.1007/s00467-010-1657-0

Abstract

Dent’s disease is an X-linked recessive renal tubulopathy characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. LMWP is the most constant feature, while the other clinical manifestations show wide variability. Patients also present variable manifestations of proximal tubule dysfunctions, such as aminoaciduria, glucosuria, hyperphosphaturia, kaliuresis, and uricosuria, consistent with renal Fanconi syndrome. Dent’s disease affects mainly male children, and female carriers are generally asymptomatic. In two-thirds of patients, the disease is caused by mutations in the CLCN5 gene, which encodes the electrogenic chloride/proton exchanger ClC-5. A few patients have mutations in OCRL1, the gene associated with the oculocerebrorenal syndrome of Lowe, which encodes a phosphatidylinositol-4,5-biphosphate-5-phosphatase (OCRL1). Both ClC-5 and OCRL1 are involved in the endocytic pathway for reabsorption of LMW proteins in the proximal tubule. This review will provide an overview of the important phenotypic characteristics of Dent’s disease and summarize the molecular data that have significantly increased our comprehension of the mechanisms causing this disease.

Keywords

Proximal tubular disorder Nephrocalcinosis Nephrolithiasis Endocytosis Genetic diseaseCLCN5 OCRL1

Copyright information

© IPNA 2010

Authors and Affiliations

  • Félix Claverie-Martín
    • 1
  • Elena Ramos-Trujillo
    • 1
  • Víctor García-Nieto
    • 2
  1. 1.Unidad de InvestigaciónHospital Universitario Nuestra Señora de CandelariaSanta Cruz de TenerifeSpain
  2. 2.Unidad de Nefrología PediátricaHospital Universitario Nuestra Señora de CandelariaSanta Cruz de TenerifeSpain