摘要
范科尼贫血(FA)是常染色体或X连锁隐性遗传性骨髓衰竭性疾病,FA相关基因突变或缺失,导致DNA损伤后修复调节以及DNA链间交联修复等多个过程异常而致病,最常见的突变基因包括FANCA、FANCC、FANCG、FANCE和FANCF。疾病表型和基因型异质性较大,主要表现为先天性躯体发育异常、进行性血细胞减少和恶性肿瘤发生风险增高。近年来,随着FA管理和治疗策略的进步,FA患者的生存有了很大改善,为更好指导我国医师的临床实践,中华医学会血液学分会红细胞疾病(贫血)学组在广泛征求有关专家意见的基础上,参考近年国内外FA相关文献,达成了《范科尼贫血诊断和治疗中国专家共识(2022版)》,旨在进一步规范我国FA的诊断与治疗。
Fanconi anemia(FA)is an autosomal recessive or X-linked hereditary bone marrow failure disease,in which mutations or deletions of FA-related genes lead to abnormalities in DNA repairment after damage and DNA cross-linking repair.The most common mutation genes include FANCA,FANCC,FANCG,FANCE and FANCF.FA is a disorder with high phenotypic and genotypic heterogeneity and mainly manifests as congenital somatic dysplasia,progressive cytopenia and increased risk of malignant tumors.In recent years,the survival of FA patients has greatly improved with the progress of FA management strategy and treatment.In order to better guide the clinical practice of doctors in China,the Red Blood Cell Disease(Anemia)Group of Chinese Society of Hematology of the Chinese Medical Association reached the"Chinese expert consensus on the diagnosis and treatment of Fanconi anemia(version 2022)"by widely collecting experts′suggestions and referring to the latest literature of FA,aiming to further standardize the diagnosis and treatment of FA in China.
作者
中华医学会血液学分会红细胞疾病(贫血)学组
张连生
韩冰
陈苗
李莉娟
吴亚妹
Red blood cell disease(anemia)group,Hematology Branch of Chinese Medical Association;Zhang Liansheng;Han Bing(不详;Department of Hematology,Lanzhou University Second Hospital,Lanzhou 730030,China;Department of Hematology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
出处
《中华医学杂志》
CAS
CSCD
北大核心
2023年第4期235-241,共7页
National Medical Journal of China
基金
中国医学科学院医学与健康科技创新工程(重大协同创新项目)“中国罕见病的精准诊疗研究”(CIFMS 2021-12M-1-003)
关键词
范科尼贫血
诊断
治疗
专家共识
Fanconi anemia
Diagnosis
Treatment
Expert consensus
