《肢端肥大症诊治中国专家共识(2020版)》系列解读之一:遗传相关的肢端肥大症  

Series interpretation to Chinese Expert Consensus on the Diagnosis and Treatment of Acromegaly(2020)(Part 1): Genetic causes of acromegaly

作　　者：周薇薇[1] 王卫庆[1] Zhou Weiwei;Wang Weiqing(Department of Endocrine and Metabolic Diseases,Shanghai Institute of Endocrine and Metabolic Diseases,Ruijin Hospital,Shanghai Jiaotong University School of Medicine,National Clinical Research Center for Metabolic Diseases(Shanghai),Key Laboratory for Endocrine and Metabolic Diseases of the National Health Commission,National Center for Translational Medicine(Shanghai),Shanghai 200025,China)

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌代谢病科,上海市内分泌代谢病研究所,国家代谢性疾病临床医学研究中心(上海),国家卫生健康委员会内分泌代谢病重点实验室,国家转化医学中心(上海),200025

出　　处：《中华内分泌代谢杂志》2021年第5期419-422,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金重点项目(91857205,81730023);国家重点研发计划项目(2018YFC1311800);科技部国际科技合作专项(2015DFA30560);上海市卫生健康委员会面上项目(201840049)。

摘　　要：肢端肥大症是常见的功能性垂体肿瘤,对肢端肥大症的规范诊治关系着民众的健康。《肢端肥大症诊治中国专家共识(2020版)》的发布更新了我们对疾病的认识。本文针对肢端肥大症的分子机制和遗传特点部分进行解读,加深共识认识以进一步提高疾病管理水平。Acromegaly is a commonly functional pituitary tumor.Standardized managements are crucial for the patients.Chinese Expert Consensus on the Diagnosis and Treatment of Acromegaly(2020)has been updated in 2020 based upon latest advance.This essential introduction about genetic causes would further guide and standardize the management of acromegaly.

关 键 词：肢端肥大症 巨人症 家族性孤立性垂体腺瘤 X连锁肢端肥大性巨人症 多发性内分泌腺瘤病 Carney综合征 MCCUNE-ALBRIGHT综合征 

分 类 号：R584.11[医药卫生—内分泌]