Хвороба Дента, тип 2
ORPHA:93623· ICD-10 N25.8· Dent disease type 2
Визначення(English summary)
A rare genetic renal tubular disease, characterized by manifestations of proximal tubule dysfunction with low-molecular-weight (LMW) proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Extra-renal involvement is frequent, but may be mild and not recognized.
- Поширеність
- Unknown
- Успадкування
- X-linked recessive
- Вік початку
- Childhood, Infancy