中国循证儿科杂志2017，Vol.12Issue(6)：446-451,6.DOI:10.3969/j.issn.1673-5501.2017.06.009
SFTPC突变致儿童间质性肺病伴家系外显不全3例并文献复习
Three cases report of childhood interstitial lung disease caused by SFTPC mutations with reduced penetrance and genotype-phenotype correlation analysis
摘要
Abstract
Objective To summarize the clinical and genotypic features of 3 childhood interstitial lung disease( chILD) caused by SFTPC mutations with reduced penetrance. Methods The clinical and genetic data of the 3 chILD patients caused by SFTPC mutations with reduced penetrance were analyzed. Literature on genotypes and phenotypes of chILD caused by SFTPC mutations were reviewed. ResuIts The three cases were full-term newborns with uneventfully delivery. They developed cough, tachypnea, cyanosis and continuous oxygen dependence during 2-15 months of age. One patient ' s brother has chILD consistent with SP-C ( surfactant protein C ) dysfunction. Pathogenic heterozygous missense mutations in SFTPC were detected in all 3 causes (c.218T>C,p.I73T, the most common SFTPC mutation reported, in 2 girls;c.314A>G, p.D105G, in a boy). There are healthy carriers in all 3 families which were found by pedigree validation. They are treated with mechanical ventilation, exogenous surfactant, steroid, and hydroxychloroquine. Conditions of 2 cases improved and 1 died respectively. There are 10 cases caused by SFTPC mutations with reduced penetrance reported in 7 literature with complete details. Altogether with the 3 cases in this study, chest CT of all 13 cases showed diffuse ground-glass changes and the onset ranged from birth to 11 years old. As for the outcomes, 2 cases died, 11 survived with chILD, and conditions of 9 improved. ConcIusion Reduced penetrance of chILD caused by SFTPC mutations also exists in Chinese Han population. Understanding of the clinical characteristics and genotypes of chILD contributes to early diagnosis, intervention, prognosis evaluation and genetic counseling.关键词
间质性肺病/儿童/表面活性蛋白C/基因型/表型/突变/外显率Key words
Interstitial lung disease/Child/Surfactant protein C/Genotype/Phenotype/Mutation/Penetrance引用本文复制引用
代丹,洪达,时艳艳,王立波,钱莉玲..SFTPC突变致儿童间质性肺病伴家系外显不全3例并文献复习[J].中国循证儿科杂志,2017,12(6):446-451,6.基金项目
国家自然科学基金面上项目:81471481 （）
上海市人才发展基金:沪人201450 （）
