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[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].
- 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.
- Subjects :
- Child
Glucocorticoids therapeutic use
Humans
Infant
Mutation
Protein C genetics
Pulmonary Surfactants
Retrospective Studies
Surface-Active Agents
Treatment Outcome
Lung Diseases, Interstitial drug therapy
Lung Diseases, Interstitial genetics
Pulmonary Surfactant-Associated Protein C genetics
Subjects
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