遗传性血色病所致内分泌功能异常的研究进展  

Research advances in endocrinopathies caused by hereditary haemochromatosis

作　　者：吴晗 于淼 贾黎静 肖诚 Wu Han;Yu Miao;Jia Lijing;Xiao Cheng(Department of Endocrinology,Shenzhen People′s Hospital,the Second Clinical Medical College of Jinan University,the First Affiliated Hospital of Southern University of Science and Technology,Shenzhen 518020,China;Department of Endocrinology,Key Laboratory of Endocrinology,National Health Commission,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Peking Union Medical College,Beijing 100730,China)

机构地区：[1]暨南大学第二临床医学院,南方科技大学第一附属医院,深圳市人民医院内分泌科,深圳518020 [2]中国医学科学院,北京协和医学院,北京协和医院内分泌科,国家卫生健康委员会内分泌重点实验室,北京100730

出　　处：《国际内分泌代谢杂志》2023年第5期376-379,共4页International Journal of Endocrinology and Metabolism

基　　金：国家重点研发计划(2018YFC2001100,2016YFC0901500);中国医学科学院医学与健康科技创新工程资助项目(CIFMS2017-I2M-1-008)。

摘　　要：遗传性血色病是一类遗传性疾病,是由于基因突变导致铁代谢异常,铁在组织器官中过量沉积,从而造成多种器官功能障碍。该病起病隐匿、误诊误治率高,其所致的多种内分泌功能异常不容忽视。遗传性血色病导致的糖尿病、性腺功能减退、骨质疏松症相对常见,肾上腺、甲状腺及甲状旁腺等腺体功能异常少有报道。内分泌科医师也应认识、掌握该类疾病,从而早期诊断并正确管理该类患者,尽可能延缓不可逆的器官功能障碍的发生。Hereditary haemochromatosis(HH)is a rare inherited metabolic disorder caused by gene mutation,which leads to abnormal iron metabolism and systemic iron overload,eventually resulting in multiple organ dysfunction.A variety of endocrine dysfunction caused by HH cannot be ignored.Diabetes,hypogonadism,and osteoporosis caused by HH are relatively common,and abnormalities of adrenal glands,thyroid glands,and parathyroid glands are rarely reported.Endocrinologists should have a better understanding of HH to diagnose and treat this disorder earlier and more accurately,thereby delaying the occurrence of irreversible organ dysfunction as much as possible.

关 键 词：遗传性血色病 糖尿病 垂体功能减退 骨质疏松症 

分 类 号：R596[医药卫生—内科学]