SFTPC Mutation-Related Interstitial Lung Disease in Infants:A Case Study and Review of Related Literature
10.3870/j.issn.1004-0781.2025.12.016
- VernacularTitle:SFTPC基因突变致婴儿肺间质疾病1例及文献回顾
- Author:
Xiuyun ZHOU
1
;
Liru QIU
1
;
Min'er CAI
1
;
Zongming YANG
1
;
Dong XU
1
;
Yongjian HUANG
1
Author Information
1. 华中科技大学同济医学院附属同济医院儿科,武汉 430030
- Publication Type:Journal Article
- Keywords:
Childhood interstitial lung disease;
Surfactant protein C;
Gene mutation
- From:
Herald of Medicine
2025;44(12):1982-1989
- CountryChina
- Language:Chinese
-
Abstract:
To investigate the clinical characteristics,genetic mutation patterns,and therapeutic strategies of an infant with interstitial lung disease associated with a surfactant protein C(SFTPC)gene mutation,and systematic review of 188 cases of SFTPC mutation-elated childhood ILD(chILD)reported in Chinese and English literature(from database inception to December 2024)was conducted.The patient in this study was a girl aged 11 months.She presented with progressive dyspnea,hypoxemia,and severe growth retardation starting at 2 months of age.Whole-exome sequencing identified a heterozygous missense mutation in SFTPC(c.187A>G,p.K63E),inherited from her mother.Symptoms significantly improved after treatment with glucocorticoids and azithromycin,though pulmonary bullae persisted at 5-year follow-up.Literature analysis revealed that the hotspot mutation I73T was located in the linker domain,while BRICHOS domain mutations exhibited the highest genetic diversity.BRICHOS domain mutations were associated with earlier onset,whereas non-BRICHOS mutations predominantly manifested in infancy with chronic cough,hypoxemia,and growth retardation.Oxygen therapy and glucocorticoids were the most common treatments.Hydroxychloroquine was more frequently used in linker domain mutations.The overall survival rate was 84%.SFTPC mutations are a critical genetic etiology of chILD in infants.Early genetic testing combined with glucocorticoid/macrolide therapy improves prognosis,but long-term monitoring for structural lung damage(e.g.,pulmonary bullae)is essential.
