[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].
Identifieur interne : 000488 ( Ncbi/Curation ); précédent : 000487; suivant : 000489[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].
Auteurs : J. Liu [République populaire de Chine] ; J H Chen [République populaire de Chine] ; Y Q Wang [République populaire de Chine] ; G M Nong [République populaire de Chine] ; Y J Zheng [République populaire de Chine] ; C L Hao [République populaire de Chine]Source :
- Zhonghua er ke za zhi = Chinese journal of pediatrics [ 0578-1310 ] ; 2019.
Descripteurs français
- KwdFr :
- Enfant, Glucocorticoïdes (usage thérapeutique), Humains, Mutation, Nourrisson, Pneumopathies interstitielles (génétique), Pneumopathies interstitielles (traitement médicamenteux), Protéine C (génétique), Protéine C associée au surfactant pulmonaire (génétique), Résultat thérapeutique, Surfactants pulmonaires, Tensioactifs, Études rétrospectives.
- MESH :
- génétique : Pneumopathies interstitielles, Protéine C, Protéine C associée au surfactant pulmonaire.
- traitement médicamenteux : Pneumopathies interstitielles.
- usage thérapeutique : Glucocorticoïdes.
- Enfant, Humains, Mutation, Nourrisson, Résultat thérapeutique, Surfactants pulmonaires, Tensioactifs, Études rétrospectives.
English descriptors
- KwdEn :
- Child, Glucocorticoids (therapeutic use), Humans, Infant, Lung Diseases, Interstitial (drug therapy), Lung Diseases, Interstitial (genetics), Mutation, Protein C (genetics), Pulmonary Surfactant-Associated Protein C (genetics), Pulmonary Surfactants, Retrospective Studies, Surface-Active Agents, Treatment Outcome.
- MESH :
- chemical , genetics : Protein C, Pulmonary Surfactant-Associated Protein C.
- chemical , therapeutic use : Glucocorticoids.
- drug therapy : Lung Diseases, Interstitial.
- genetics : Lung Diseases, Interstitial.
- Child, Humans, Infant, Mutation, Pulmonary Surfactants, Retrospective Studies, Surface-Active Agents, Treatment Outcome.
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.
DOI: 10.3760/cma.j.issn.0578-1310.2019.01.007
PubMed: 30630227
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<term>Mutation</term>
<term>Protein C (genetics)</term>
<term>Pulmonary Surfactant-Associated Protein C (genetics)</term>
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<term>Protéine C associée au surfactant pulmonaire (génétique)</term>
<term>Résultat thérapeutique</term>
<term>Surfactants pulmonaires</term>
<term>Tensioactifs</term>
<term>Études rétrospectives</term>
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<term>Mutation</term>
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<front><div type="abstract" xml:lang="en"><b>Objective:</b>
To investigate the clinical features and outcomes of pulmonary surfactant protein C gene (SFTPC) 218 site mutation in children with pulmonary interstitial disease. <b>Methods:</b>
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. <b>Results:</b>
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. <b>Conclusions:</b>
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.</div>
</front>
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