基础医学与临床 ›› 2021, Vol. 41 ›› Issue (4): 584-588.

• 短篇综述 • 上一篇    下一篇

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

赵平平, 刘靖芳*   

  1. 兰州大学第一医院 内分泌科, 甘肃 兰州 730000
  • 收稿日期:2020-05-12 修回日期:2020-08-04 出版日期:2021-04-05 发布日期:2021-04-05
  • 通讯作者: *ljf824168@126.com
  • 基金资助:
    国家自然科学基金(81960155)

Research progress on clinical characteristics and molecular genetic mechanism of pseudohypoparathyroidism

ZHAO Ping-ping, LIU Jing-fang*   

  1. Department of Endocrinology, the First Hospital of Lanzhou University,Lanzhou 730000,China
  • Received:2020-05-12 Revised:2020-08-04 Online:2021-04-05 Published:2021-04-05
  • Contact: *ljf824168@126.com

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。

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

Abstract: 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.

Key words: pseudohypoparathyroidism, GNAS, clinical characteristics, molecular genetic mechanism

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