Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study
10.3760/cma.j.issn.0578-1310.2019.01.007
- VernacularTitle:肺表面活性物质蛋白C基因218位点变异致婴幼儿肺间质疾病七例临床研究
- Author:
Jing LIU
1
;
Jiehua CHEN
;
Yuqing WANG
;
Guangmin NONG
;
Yuejie ZHENG
;
Chuangli HAO
Author Information
1. 广西医科大学第一附属医院儿科
- Keywords:
Interstitial lung disease;
Pulmonary surfactant-related proteins;
Genes;
Mutations;
Infants
- From:
Chinese Journal of Pediatrics
2019;57(1):21-26
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical features and outcomes of pulmonary surfactant protein C gene (SFTPC) 218 site mutation in children with pulmonary interstitial disease.Methods In this retrospective study,the clinical data,outcomes and influencing factors of 7 cases of SFTPC gene 218 site mutations in infants with interstitial lung disease in three hospitals from January 2013 to December 2016 were analyzed.Results Seven cases were full-term children,4 cases had the onset within 3 months after birth,2 cases after 1 year old,1 case within 3 months to 1 year,clinical manifestations of these cases were cough,shortness of breath,dyspnea,and limited growth and development,could not maintain life without additional oxygen supplementation,blood gas analysis showed hypoxemia,4 cases had clubbing.Chest CT showed diffuse ground glass-like change in both lungs.Three cases were positive for cytomegalovirus (CMV)-IgM or CMV-DNA.The mutations in 7 cases were exon 3,5 of which were SFTPC gene c.218T＞C,p.lle73Thr (heterozygous mutation),and 2 cases were SFTPC gene c.218T＞A,p.lle73Asn (homozygous mutation),1 case combined with ABCA3 gene mutations.Four patients were treated with prednisone alone,one with prednisone plus hydroxychloroquine,and two with symptomatic treatment.Three patients died,3 patients improved,and 1 patient was lost to follow-up.Conclusions The severity and prognosis of the children with SP-C 218 site mutation may be affected by many factors.Some children who received glucocorticoid alone do not have a good response.
