Аутосомно-рецесивний дистальний нирковий тубулярний ацидоз
ORPHA:402041· ICD-10 N25.8· Autosomal recessive distal renal tubular acidosis
Визначення(English summary)
A rare autosomal recessive form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. Several fractures and delayed puberty are possible features.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy