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[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].

Authors :
Liu J
Chen JH
Wang YQ
Nong GM
Zheng YJ
Hao CL
Source :
Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2019 Jan 02; Vol. 57 (1), pp. 21-26.
Publication Year :
2019

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.

Details

Language :
Chinese
ISSN :
0578-1310
Volume :
57
Issue :
1
Database :
MEDLINE
Journal :
Zhonghua er ke za zhi = Chinese journal of pediatrics
Publication Type :
Academic Journal
Accession number :
30630227
Full Text :
https://doi.org/10.3760/cma.j.issn.0578-1310.2019.01.007