假性甲状旁腺功能减退症的临床特点和分子遗传学机制研究进展  

Research progress on clinical characteristics and molecular genetic mechanism of pseudohypoparathyroidism

作　　者：赵平平 刘靖芳[1] ZHAO Ping-ping;LIU Jing-fang(Department of Endocrinology, the First Hospital of Lanzhou University,Lanzhou 730000,China)

机构地区：[1]兰州大学第一医院内分泌科,甘肃兰州730000

出　　处：《基础医学与临床》2021年第4期584-588,共5页Basic and Clinical Medicine

基　　金：国家自然科学基金(81960155)。

摘　　要：假性甲状旁腺功能减退症(PHP)是一种罕见的遗传性内分泌疾病,以甲状旁腺激素(PTH)抵抗、低血钙、高血磷为主要特征。发病机制多与编码Gsα蛋白的GNAS基因突变导致Gsα表达减少或功能下降,从而使Gsα/cAMP/PKA信号通路受损有关。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 Gsαexpression or impaired function caused by the mutation of GNAS gene encoding Gsαprotein,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.

关 键 词：假性甲状旁腺功能减退症 GNAS 临床特点 分子遗传学机制 

分 类 号：R582.2[医药卫生—内分泌]