Advance in ABCA3 gene mutation and related pediatric pulmonary diseases
10.3760/cma.j.issn.1673-4408.2022.02.010
- VernacularTitle:ABCA3基因突变与儿童肺疾病的研究进展
- Author:
Zhichen TIAN
1
;
Xiaojuan YIN
Author Information
1. 中国人民解放军总医院儿科医学部，北京 100700
- Keywords:
Surfactant;
ABCA3;
Respiratory distress syndrome;
Interstitial pulmonary disease
- From:
International Journal of Pediatrics
2022;49(2):114-117
- CountryChina
- Language:Chinese
-
Abstract:
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.
