Update on Dent Disease

Abdulla M Ehlayel; Lawrence Copelovitch

doi:10.1016/j.pcl.2018.09.003

Update on Dent Disease

Pediatr Clin North Am. 2019 Feb;66(1):169-178. doi: 10.1016/j.pcl.2018.09.003.

Authors

Abdulla M Ehlayel¹, Lawrence Copelovitch²

Affiliations

¹ Division of Nephrology, The Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA.
² Division of Nephrology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA. Electronic address: copelovitch@email.chop.edu.

PMID: 30454742
DOI: 10.1016/j.pcl.2018.09.003

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.

Publication types

Review

MeSH terms

Child
Dent Disease* / diagnosis
Dent Disease* / genetics
Dent Disease* / physiopathology
Dent Disease* / therapy
Diagnosis, Differential
Disease Progression
Humans