ABCA3基因突变与儿童肺疾病的研究进展  

Advance in ABCA3 gene mutation and related pediatric pulmonary diseases

作　　者：田智琛(综述) 尹晓娟(审校) Tian Zhichen;Yin Xiaojuan(Department of Pediatrics,Chinese PLA General Hospital,Beijing 100700,China;The Second School of Clinical Medicine,Southern Medical University,Guangzhou 510515,China;Department of Pediatrics,Hainan Hospital of The PLA General Hospital,Sanya 572000,China)

机构地区：[1]中国人民解放军总医院儿科医学部,北京100700 [2]南方医科大学第二临床医学院,广州510515 [3]中国人民解放军总医院海南医院儿科,三亚572000

出　　处：《国际儿科学杂志》2022年第2期114-117,共4页International Journal of Pediatrics

基　　金：海南省自然科学基金(820MS122)。

摘　　要：ATP结合盒转运子A3(ATP-binding cassette transporter A3,ABCA3)基因突变是引起严重新生儿呼吸窘迫综合征和儿童及成人间质性肺疾病的重要原因之一,ABCA3突变患者的临床表型差异很大,目前为止,基因型与表型之间的关系尚不完全清楚,影响表型的可能因素(如环境、感染)与疾病之间的相关性还有待研究。ABCA3突变导致的疾病尚无特异性的治疗方法。目前的研究ABCA3突变的体外模型也仍存在缺陷。该文重点综述ABCA3的结构、遗传学及疾病治疗的研究进展,以期为进一步的研究及治疗ABCA3基因突变引起的疾病提供经验及思路。ATP-binding cassette transporter A3(ABCA3)gene mutation is one of the important causes of severe respiratory distress syndrome and interstitial lung disease in children and adults.Clinical phenotypes vary dramatically among patients with ABCA3 mutations.So far,the genotype-phenotype correlation is not entirely clear.The association between the possible factors that influence the phenotypes,such as the environment,infection and diseases remains to be studied.There is no specific treatment for the diseases caused by the mutations.Present models for studying ABCA3 mutations in vitro are still to be improved.This article focuses on reviewing the structure,genetics and the research progress of treatment of ABCA3 gene mutation related pediatric diseases,in order to provide experience and ideas for further researches and treatment of the diseases caused by ABCA3 gene mutation.

关 键 词：表面活性物质 ATP结合盒转运子A3 呼吸窘迫综合征 间质性肺疾病 

分 类 号：R73[医药卫生—肿瘤]