Псевдогіпопаратиреоз, тип 2
ORPHA:94090· ICD-10 E20.1· Pseudohypoparathyroidism type 2
Визначення(English summary)
Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO; see this term), and normal expression of the Gs protein with a normal urinary cAMP response.
- Поширеність
- Unknown
- Успадкування
- Not applicable
- Вік початку
- All ages