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Clinical characteristics and genetic analyses of Korean children with Dent disease.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2026

Yang Eun Mi, Ahn Yo Han, Kim Ji Hyun, Song Ji Yeon, Cho Min Hyun, Han Kyoung Hee, Park Se Jin, Kang Hee Gyung, Cho Heeyeon, Cheong Hae Il

Abstract excerpt

BACKGROUND: Dent disease is a hereditary kidney tubular disorder caused by pathogenic variants in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes. As a rare genetic disorder, Dent disease often presents with variable clinical manifestations, leading to frequent misdiagnosis or underdiagnosis, especially in milder cases. Consequently, limited research has addressed the long-term clinical outcomes...

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Identifiers

PMID: 42000952
DOI: 10.1007/s00467-026-07291-w
PMCID: PMC13423995

Genes

CLCN5

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