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Article

Expanding the phenotype of proteinuria in Dent disease. A case series.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2014

Cramer Monica T, Charlton Jennifer R, Fogo Agnes B, Fathallah-Shaykh Sahar A, Askenazi David J, Guay-Woodford Lisa M

Abstract excerpt

BACKGROUND: Dent disease is an X-linked recessive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure (MIM 300009). A recent case series identified four patients with CLCN5 mutations who presented with nephrotic-range proteinuria, histologic evidence of focal segmental and/or global sclerosis, and low molecular...

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Source

Identifiers

PMID: 24810952
DOI: 10.1007/s00467-014-2824-5

Genes

CLCN5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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