Clinical characteristics and genetic analyses of Korean children with Dent disease
Early genetic testing for Dent disease in children with kidney signs could prevent progression to kidney failure in this underrecognized condition.
This multicenter Korean cohort (n=48) provides detailed natural history data for Dent disease, a rare X-linked tubulopathy with high rates of underdiagnosis due to phenotypic variability. The finding that 39.5% progress to kidney dysfunction by early adulthood underscores the need for high clinical suspicion and early genetic testing.
What the study was
- Study design
- Retrospective multicenter cohort study (n=48 patients from 44 unrelated families at 9 hospitals in Korea)
- Population
- Korean children with genetically confirmed Dent disease (CLCN5 or OCRL1 pathogenic variants)
- Sample size
- 48
- Category
- Diagnostics
- Maturity
- Exploratory
- Journal
- Pediatric Nephrology
Why it surfaced
Dent disease is chronically underdiagnosed; multicenter natural history data from 9 Korean centers adds to the sparse evidence base for this rare disease; kidney dysfunction rate of 39.5% by early adulthood highlights urgent need for early identification.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.