Dent’s disease: clinical features and molecular basis
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Félix Claverie-Martیn & Elena Ramos-Trujillo & Vیctor Garcیa-Nieto
- چاپ و سال / کشور: 2011
Description
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.
Pediatr Nephrol (2011) 26:693–704 DOI 10.1007/s00467-010-1657-0 Received: 7 June 2010 / Revised: 27 August 2010 / Accepted: 6 September 2010 / Published online: 10 October 2010
