Dominant hypophosphatemia with nephrolithiasis or osteoporosis
ORPHA:244305· ICD-10 N25.8
Definition
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Adult