Спадковий гіпофосфатемічний рахіт з гіперкальціурією
ORPHA:157215· ICD-10 E83.3· Hereditary hypophosphatemic rickets with hypercalciuria
Визначення(English summary)
A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Childhood, Infancy