A novel SFTPA2 c. 736T>C variant potentially associated with pediatric interstitial lung disease: case report and literature review
10.3760/cma.j.cn101070-20241016-00665
- VernacularTitle:SFTPA2基因c.736T>C突变可能致儿童间质性肺病1例并文献复习
- Author:
Yanjun WANG
1
;
Shufang XIAO
1
;
Ruohong JIN
1
;
Qian HAN
1
Author Information
1. 昆明市儿童医院，昆明医科大学附属儿童医院儿科重症监护室，昆明 650100
- Publication Type:Journal Article
- Keywords:
Whole-exome sequencing;
SFTPA2 gene;
Novel mutation;
Interstitial lung disease
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(9):698-703
- CountryChina
- Language:Chinese
-
Abstract:
The clinical features and SFTPA2 gene mutation in a female child with interstitial lung disease, who was admitted to the Pediatric Intensive Care Unit of Kunming Children′s Hospital in September 2022, were retrospectively analyzed, supplemented by a literature review.The 8-year-and-11-month-old patient presented with pneumonia, dyspnea, and persistent hypoxemia.High-resolution computed tomography revealed pneumomediastinum, subcutaneous emphysema, pneumothorax, and bilateral diffuse lung lesions.Pulmonary function tests demonstrated restrictive ventilatory impairment.Whole-exome sequencing identified a novel heterozygous SFTPA2 variant (c.736T>C) in the patient, potentially associated with interstitial lung disease.To date, 18 SFTPA2 variants have been globally linked to interstitial lung disease.The variant detected in this case is previously unreported, expanding both the phenotypic and mutational spectra of this disorder.
