ADA2基因变异与腺苷脱氨酶2缺乏症的研究进展  

Effects of Dingchuan granules on viral load and airway resistance in lung tissue of young rats with respiratory syncytial virus pneumonia Research progress of ADA2 gene mutation and the deficiency of adenosine deaminase 2

作　　者：付彬 李海波 叶启东 闫露露[2] FU Bin;LI Haibo;YE Qidong;YAN Lulu(Medical Department,Ningbo University,Ningbo 315000,China)

机构地区：[1]宁波大学医学部,浙江宁波315000 [2]宁波市妇女儿童医院出生缺陷综合防治中心 [3]宁波大学附属第一医院

出　　处：《中国中西医结合儿科学》2024年第2期102-106,共5页Chinese Pediatrics of Integrated Traditional and Western Medicine

基　　金：宁波市社会公益项目(2022S035);宁波市科技计划项目(202002N3150、2021J267);浙江省医药卫生科技计划项目(2020KY254、2020KY890)。

摘　　要：腺苷脱氨酶2缺乏症是一种罕见的常染色体隐性遗传的自身炎症性疾病,是由ADA2基因纯合或复合杂合变异导致腺苷脱氨酶2活性低下或缺乏而致病。该缺乏症主要临床表现为儿童期起病的全身性炎症、血管炎、体液免疫缺陷和血液学异常等,早期诊断困难,发病机制尚不完全清楚。全身性炎症表型患者治疗首选肿瘤坏死因子α受体拮抗剂,其次为沙利度胺。造血干细胞移植主要用于严重血液学表型患者或对肿瘤坏死因子α受体拮抗剂治疗无效患者。本文对腺苷脱氨酶2缺乏症的临床特征、人口学特征、基因型以及与临床表型相关性、可能的发病机制和诊疗策略进行阐述。Deficiency of adenosine deaminase 2(DADA2)is a rare autosomal recessive inherited autoinflammatory disease.DADA2 is caused by homozygous or complex heterozygous mutations of ADA2 gene resulting in low or insufficient activity of adenosine deaminase 2(ADA2).The main clinical manifestations of DADA2 in childhood include systemic inflammation,vasculitis,humoral immunodeficiency and hematological abnormalities.Early diagnosis of DADA2 is difficult,and its pathogenesis is unclear.TNF-αreceptor inhibitor is the first-line treatment for patients with systemic inflammatory phenotype,followed by thalidomide.Hematopoietic stem cell transplantation(HSTC)has been used mainly in the patients with severe hematological phenotype or having no response to TNF-αreceptor inhibitor treatment.In this paper,we reviewed the clinical features,demographic characteristics,genotype and its correlation with clinical phenotype,possible pathogenesis and diagnosis and treatment strategy of DADA2.

关 键 词：腺苷脱氨酶2缺乏症 ADA2基因 自身炎症性疾病 血管炎 

分 类 号：R725.4[医药卫生—儿科]