[1]吴晗 于淼 贾黎静 肖诚.遗传性血色病所致内分泌功能异常的研究进展[J].国际内分泌代谢杂志,2023,43(05):376-379.[doi:10.3760/cma.j.cn121383-20221211-12028]
　Wu Han,Yu Miao,Jia Lijing,et al.Research advances in endocrinopathies caused by hereditary haemochromatosis[J].International Journal of Endocrinology and Metabolism,2023,43(05):376-379.[doi:10.3760/cma.j.cn121383-20221211-12028]
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遗传性血色病所致内分泌功能异常的研究进展()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
43
期数:
2023年05期
页码:
376-379
栏目:
综述
出版日期:
2023-09-20

文章信息/Info

Title:
Research advances in endocrinopathies caused by hereditary haemochromatosis
作者:
吴晗1 于淼2 贾黎静1 肖诚2
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
Author(s):
Wu Han1;  Yu Miao2;  Jia Lijing1;  Xiao Cheng2.
1Department 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; 2Department 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
关键词:
遗传性血色病;  糖尿病;  垂体功能减退;  骨质疏松症
Keywords:
Hereditary hemochromatosis;  Diabetes;  Hypopituitarism;  Osteoporosis
DOI:
10.3760/cma.j.cn121383-20221211-12028
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。
Abstract:
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.

参考文献/References:

[1] Olynyk JK,Ramm GA.Hemochromatosis[J].N Engl J Med,2022,387(23):2159-2170.DOI:10.1056/NEJMra2119758.
[2] Pelusi C,Gasparini DI,Bianchi N,et al.Endocrine dysfunction in hereditary hemochromatosis[J].J Endocrinol Invest,2016,39(8):837-847.DOI:10.1007/s40618-016-0451-7.
[3] European Association for the Study of the Liver.EASL clinical practice guidelines on haemochromatosis[J].J Hepatol,2022,77(2):479-502.DOI:10.1016/j.jhep.2022.03.033.
[4] Takami A,Tatsumi Y,Sakai K,et al.Juvenile hemochromatosis:a case report and review of the literature[J].Pharmaceuticals(Basel),2020,13(8):195.DOI:10.3390/ph13080195.
[5] Powell LW,Seckington RC,Deugnier Y.Haemochromatosis[J].Lancet,2016,388(10045):706-716.DOI:10.1016/S0140-6736(15)01315-X.
[6] Kawabata H.The mechanisms of systemic iron homeostasis and etiology,diagnosis,and treatment of hereditary hemochromatosis[J].Int J Hematol,2018,107(1):31-43.DOI:10.1007/s12185-017-2365-3.
[7] Girelli D,Busti F,Brissot P,et al.Hemochromatosis classification:update and recommendations by the BIOIRON Society[J].Blood,2022,139(20):3018-3029.DOI:10.1182/blood.2021011338.
[8] Griffiths WJH,Besser M,Bowden DJ,et al.Juvenile haemochromatosis[J].Lancet Child Adolesc Health,2021,5(7):524-530.DOI:10.1016/S2352-4642(20)30392-8.
[9] Brissot P,Pietrangelo A,Adams PC,et al.Haemochromatosis[J].Nat Rev Dis Primers,2018,4:18016.DOI:10.1038/nrdp.2018.16.
[10] Kowdley KV,Brown KE,Ahn J,et al.ACG clinical guideline:hereditary hemochromatosis[J].Am J Gastroenterol,2019,114(8):1202-1218.DOI:10.14309/ajg.0000000000000315.
[11] Wu H,Yu M,Xiao C,et al.Clinical characteristics of endocrinopathies in Chinese patients with hereditary haemochromatosis[J].Diabetes Metab Res Rev,2021,37(4):e3448.DOI:10.1002/dmrr.3448.
[12] Aregbesola A,Voutilainen S,Virtanen JK,et al.Body iron stores and the risk of type 2 diabetes in middle-aged men[J].Eur J Endocrinol,2013,169(2):247-253.DOI:10.1530/EJE-13-0145.
[13] Woodmansey C,McGovern AP,McCullough KA,et al.Incidence,demographics,and clinical characteristics of diabetes of the exocrine pancreas(Type 3c):a retrospective cohort study[J].Diabetes Care,2017,40(11):1486-1493.DOI:10.2337/dc17-0542.
[14] Andersen DK,Korc M,Petersen GM,et al.Diabetes,pancreatogenic diabetes,and pancreatic cancer[J].Diabetes,2017,66(5):1103-1110.DOI:10.2337/db16-1477.
[15] ElSayed NA,Aleppo G,Aroda VR,et al.2.Classification and diagnosis of diabetes:standards of care in diabetes-2023[J].Diabetes Care,2023,46(Suppl 1):S19-S40.DOI:10.2337/dc23-S002.
[16] Wynne K,Devereaux B,Dornhorst A.Diabetes of the exocrine pancreas[J].J Gastroenterol Hepatol,2019,34(2):346-354.DOI:10.1111/jgh.14451.
[17] Simcox JA,McClain DA.Iron and diabetes risk[J].Cell Metab,2013,17(3):329-341.DOI:10.1016/j.cmet.2013.02.007.
[18] Creighton Mitchell T,McClain DA.Diabetes and hemochromatosis[J].Curr Diab Rep,2014,14(5):488.DOI:10.1007/s11892-014-0488-y.
[19] Barton JC,Acton RT.Diabetes in HFE hemochromatosis[J].J Diabetes Res,2017,2017:9826930.DOI:10.1155/2017/9826930.
[20] McDermott JH,Walsh CH.Hypogonadism in hereditary hemochromatosis[J].J Clin Endocrinol Metab,2005,90(4):2451-2455.DOI:10.1210/jc.2004-0980.
[21] El Osta R,Grandpre N,Monnin N,et al.Hypogonadotropic hypogonadism in men with hereditary hemochromatosis[J].Basic Clin Androl,2017,27:13.DOI:10.1186/s12610-017-0057-8.
[22] Baschant U,Altamura S,Steele-Perkins P,et al.Iron effects versus metabolic alterations in hereditary hemochromatosis driven bone loss[J].Trends Endocrinol Metab,2022,33(9):652-663.DOI:10.1016/j.tem.2022.06.004.
[23] Xu G,Li X,Zhu Z,et al.Iron overload induces apoptosis and cytoprotective autophagy regulated by ROS generation in Mc3t3-E1 cells[J].Biol Trace Elem Res,2021,199(10):3781-3792.DOI:10.1007/s12011-020-02508-x.
[24] Valenti L,Varenna M,Fracanzani AL,et al.Association between iron overload and osteoporosis in patients with hereditary hemochromatosis[J].Osteoporos Int,2009,20(4):549-555.DOI:10.1007/s00198-008-0701-4.
[25] Zarjou A,Jeney V,Arosio P,et al.Ferritin ferroxidase activity:a potent inhibitor of osteogenesis[J].J Bone Min Res,2010,25(1):164-172.DOI:10.1359/jbmr.091002.
[26] Prabhu A,Cargill T,Roberts N,et al.Systematic review of the clinical outcomes of iron reduction in hereditary hemochromatosis[J].Hepatology,2020,72(4):1469-1482.DOI:10.1002/hep.31405.

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备注/Memo

备注/Memo:
通信作者:于淼,Email:yumiao_lisa@pumch.cams.cn
基金项目: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)
更新日期/Last Update: 2023-10-10