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Dent's disease: case series from a single center.
Hilal Yaşar1, Emre Leventoğlu2, Bahar Büyükkaragöz2
1Faculty of Medicine, Gazi University, Ankara, Türkiye.
The Turkish Journal of Pediatrics
|November 25, 2024
Summary
Dent's disease (DD) is a rare kidney disorder. This study highlights three cases, detailing their genetic causes, symptoms like proteinuria and hypercalciuria, and management strategies for this tubulopathy.
Area of Science:
- Nephrology
- Genetics
- Pediatric Medicine
Background:
- Dent's disease (DD) is a rare X-linked recessive tubulopathy.
- Characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis, and chronic kidney disease.
Observation:
- Three pediatric cases of Dent's disease diagnosed over 10 years.
- Cases presented with varying symptoms including nephrocalcinosis, proteinuria, and recurrent urinary tract infections.
- Genetic analysis identified variants in CLCN5 and OCRL genes.
Findings:
- All patients exhibited proteinuria and hypercalciuria.
- CLCN5 gene variants were found in two patients, and an OCRL gene variant in one.
- No deterioration in kidney function was observed during the follow-up period.
Implications:
- Dent's disease presents with diverse phenotypes, even with mutations in the same gene.
- Consider DD in pediatric patients with hypercalciuria, proteinuria, nephrolithiasis, or nephrocalcinosis.
- Utilize classical treatments for hypercalciuria and develop individualized plans for proteinuria management.
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