| 遗传代谢病所致贫血的诊疗专家共识 |
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| 引用本文： | 北京医学会罕见病分会,中国妇幼保健协会儿童疾病和保健分会遗传代谢学组,中国医师协会青春期医学专业委员会临床遗传学组及生化学组,中华预防医学会儿童保健分会,标记免疫分析与临床编辑委员会.遗传代谢病所致贫血的诊疗专家共识[J].标记免疫分析与临床,2021,28(10):1626-1634. |
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| 作者姓名： | 北京医学会罕见病分会 中国妇幼保健协会儿童疾病和保健分会遗传代谢学组 中国医师协会青春期医学专业委员会临床遗传学组及生化学组 中华预防医学会儿童保健分会 标记免疫分析与临床编辑委员会 |
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| 摘 要： | 遗传代谢病是一大类复杂的单基因病,由于代谢通路异常导致物质代谢紊乱,可以引起单系统或多系统损害.血液系统疾病涉及红细胞、白细胞和血小板功能和数量的异常,其中贫血最常见,新生儿到老年均可发病.现有研究发现,多种遗传代谢病可导致贫血,致病机制不同,一些疾病引起铁、维生素B12、叶酸代谢异常,另一些造成红细胞膜、代谢相关酶或血红蛋白合成异常,引起不同类型不同程度的贫血.为了提高临床医生对遗传代谢病所致贫血及血液系统疾病的认识,早期诊断、精准治疗、改善预后,国内多学科专家共同讨论,结合国内外经验及指南,以巨幼细胞性贫血、溶血性贫血、铁粒幼细胞性贫血和小细胞低色素性贫血四类贫血相关的遗传代谢病的病因、发病机制、临床表现和治疗为重点,制定了本共识,以期指导优化临床诊治实践.
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| 关 键 词： | 贫血 维生素 代谢 营养 遗传代谢病 共识 |
The Expert Consensus on the Diagnosis and Treatment of Anemia Caused by Inherited Metabolic Disorders |
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| Rare Diseases Committee of Beijing Medical Association,Division of Genetics and Metabolism,Child Diseases and Health Care Branch,Chinese Association for Maternal and Child Health,Society of Clinical Genetics and Biochemistry,Institute for Adolescence Medicine,Chinese Medical Doctor Association,Society of Child HealthChinese Preventive Medicine Association,Editorial Board of Labeled Immunoassays and Clinical Medicine.The Expert Consensus on the Diagnosis and Treatment of Anemia Caused by Inherited Metabolic Disorders[J].Labeled Immunoassays and Clinical Medicine,2021,28(10):1626-1634. |
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| Authors: | Rare Diseases Committee of Beijing Medical Association Division of Genetics and Metabolism Child Diseases and Health Care Branch Chinese Association for Maternal and Child Health Society of Clinical Genetics and Biochemistry Institute for Adolescence Medicine Chinese Medical Doctor Association Society of Child HealthChinese Preventive Medicine Association Editorial Board of Labeled Immunoassays and Clinical Medicine |
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