高同型半胱氨酸血症的诊断、治疗与预防专家共识  

The Expert Consensus on the Diagnosis,Treatment,and Prevention of Hyperhomocysteinemia

作　　者：李东晓 张尧 张宏武[1,2,3,4,5,6,8] 王琳 王晓建[1,2,3,4,5,6,10] 杨艳玲 LI Dong-xiao;ZHANG Yao;ZHANG Hong-wu;WANG Lin;WANG Xiao-jian;YANG Yan-ling(China Maternal and Child Health Association(Birth Defects Prevention and Molecular Genetics Branch,Early Child Development Branch,Division of Genetics and Metabolism of Child Diseases and Health Care Branch),Rare Diseases committee of Beijing Medical Association;Chinese Medical Doctor Association(Pediatric Endocrine,Genetics and Metabolism);Society of Clinical Genetics and Biochemistry,Institute for Adolescence Medicine;Chinese Preventive Medicine Association(Disability Prevention and Control Committee,Society of Child Health);Shenzhen Rare Disease Engineering Research Center of Metabolomics in Precision Medicine;Editorial Committee of Journal of Rare and Uncommon Diseases)

机构地区：[1]中国妇幼保健协会出生缺陷防治与分子遗传分会、儿童早期发展专委会、儿童疾病和保健分会遗传代谢学组 [2]北京医学会罕见病分会 [3]中国医师协会儿科分会内分泌遗传代谢学组、青春期医学专业委员会临床遗传学组及生化学组 [4]中华预防医学会残疾预防与控制专业委员会、儿童保健分会 [5]深圳罕见病代谢组学精准医学工程研究中心 [6]《罕少疾病杂志》编辑委员会 [7]河南省儿童医院 [8]北京大学第一医院 [9]首都儿科研究所附属儿童医院 [10]中国医学科学院阜外医院

出　　处：《罕少疾病杂志》2022年第6期1-4,共4页Journal of Rare and Uncommon Diseases

基　　金：国家重点研发计划(2019YFC1005100);国家自然科学基金(82000850);深圳市工程研究中心(工程实验室)组建项目(F-2020-Z99-502615);湖南省出生缺陷协同防治科技重大专项(2019SK1010)。

摘　　要：高同型半胱氨酸血症是一组常见的代谢病,包括遗传性和非遗传性两大类。在遗传性高同型半胱氨酸血症中,胱硫醚β-合成酶缺乏症、亚甲基四氢叶酸还原酶缺乏症和蛋氨酸腺苷转移酶缺乏症表现为单纯高同型半胱氨酸血症,而钴胺素代谢障碍则可导致甲基丙二酸血症合并同型半胱氨酸血症。非遗传性因素包括钴胺素、叶酸、维生素B6、甜菜碱缺乏等,也可以引起程度不同的高同型半胱氨酸血症。针对不同病因导致的高同型半胱氨酸血症,需采用不同方法进行治疗。为优化高同型半胱氨酸血症的防治策略,国内多学科专家讨论,以高同型半胱氨酸血症的病因、诊断、治疗和预防为重点,结合国内外经验及指南,制订本共识。Hyperhomocysteinemia is a group of common metabolic diseases caused by varied inherited and non-inherited disorders.Among inherited hyperhomocysteinemia,cystathionineβ-synthase deficiency,methylenetetrahydrofolate reductase deficiency,and methionine adenosyltransferase deficiency manifest as isolated homocysteinemia,whereas cobalamin metabolic disorders can lead to methylmalonic acidemia combined with homocysteinemia.Non-inherited diseases,such as deficiencies of cobalamin,folic acid,vitamin B6 and betaine,can also cause hyperhomocysteinemia.The treatment strategies should vary according to the cause of the diseases.In order to improve the strategies for the treatment and prevention of hyperhomocysteinemia,domestic multidisciplinary experts made fully discussion on the etiology,diagnosis,treatment and prevention of hyperhomocysteinemia on the basis of both domestic and international experience and guidelines,and reached this consensus.

关 键 词：同型半胱氨酸 高同型半胱氨酸血症 钴胺素 叶酸 蛋氨酸 共识 

分 类 号：R591.424[医药卫生—内科学]