Dent disease type 1
ORPHA:93622· ICD-10 N25.8
Definition
A rare X-linked monogenic renal tubular disease, characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is absent.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Childhood