Article
Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review.
The Journal of international medical research - 1 Sept 2024
Mao Youying, Zhang Chenxing, Zhou Zhengyu, Zhou Wei, Yin Lei
Abstract excerpt
Dent disease is a rare disease with proximal renal tubular dysfunction, and is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Renal failure slowly progresses and end-stage renal disease may develop in the late decades of life. We report a case of a 15-year-old boy who was diagnosed with Dent disease 1 with a CLCN5 truncating...
Topics
- Humans
- Male
- Adolescent
- Kidney Failure, Chronic
- Rickets
- Dent Disease
- Chloride Channels
- Mutation
