Research progress on clinical characteristics and molecular genetic mechanism of pseudohypoparathyroidism
oleh: ZHAO Ping-ping, LIU Jing-fang
| Format: | Article |
|---|---|
| Diterbitkan: | Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. 2021-04-01 |
Deskripsi
Pseudohypoparathyroidism (PHP) is a rare genetic disease characterized by parathyroid hormone (PTH) resistance, hypocalcemia and hyperphosphatemia. The pathogenesis is mainly related to the decrease of Gsα expression or impaired function caused by the mutation of GNAS gene encoding Gsα protein, which leads to the damage of Gsα/cAMP/PKA signal pathway. The purpose of this study is to explore the clinical features and molecular geneticmechanism of different types of PHP.