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Review
. 2019 Feb;66(1):169-178.
doi: 10.1016/j.pcl.2018.09.003.

Update on Dent Disease

Abdulla M Ehlayel  1 , Lawrence Copelovitch  2
Affiliations
Review

Update on Dent Disease

Abdulla M Ehlayel et al. Pediatr Clin North Am. 2019 Feb.

Abstract

Dent disease is an X-linked form of chronic kidney disease characterized by hypercalciuria, low molecular weight proteinuria, nephrocalcinosis, and proximal tubular dysfunction. Clinical presentation is highly variable. Male patients may present with early-onset rickets, recurrent nephrolithiasis, or insidiously with asymptomatic proteinuria or chronic kidney disease. Mutations in both the CLCN5 and OCRL1 genes have been associated with the Dent phenotype and are now classified as Dent-1 and Dent-2, respectively. This article describes the clinical presentation, laboratory evaluation, genetics, pathophysiology, management, and future therapies of Dent disease.

Keywords: CLCN5; Chronic kidney disease; Dent disease; Nephrolithiasis; OCRL1.

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