Первинна гіпероксалурія
ORPHA:416· ICD-10 E74.8· Primary hyperoxaluria
Визначення(English summary)
A disorder of glyoxylate metabolism characterized by an excess of oxalate resulting in kidney stones, nephrocalcinosis and ultimately renal failure and systemic oxalosis. There are 3 types of PH, types 1-3, all caused by liver-specific enzyme defects.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- All ages