[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].
Identifieur interne : 000262 ( Main/Exploration ); précédent : 000261; suivant : 000263[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
Affiliations:
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Liu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021</wicri:regionArea><wicri:noRegion>Nanning 530021</wicri:noRegion></affiliation></author><author><name sortKey="Chen, J H" sort="Chen, J H" uniqKey="Chen J" first="J H" last="Chen">J H Chen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026</wicri:regionArea><placeName><settlement type="city">Shenzhen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Wang, Y Q" sort="Wang, Y Q" uniqKey="Wang Y" first="Y Q" last="Wang">Y Q Wang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025</wicri:regionArea><wicri:noRegion>Suzhou 215025</wicri:noRegion></affiliation></author><author><name sortKey="Nong, G M" sort="Nong, G M" uniqKey="Nong G" first="G M" last="Nong">G M Nong</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021</wicri:regionArea><wicri:noRegion>Nanning 530021</wicri:noRegion></affiliation></author><author><name sortKey="Zheng, Y J" sort="Zheng, Y J" uniqKey="Zheng Y" first="Y J" last="Zheng">Y J Zheng</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026</wicri:regionArea><placeName><settlement type="city">Shenzhen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Hao, C L" sort="Hao, C L" uniqKey="Hao C" first="C L" last="Hao">C L Hao</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025</wicri:regionArea><wicri:noRegion>Suzhou 215025</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2019">2019</date><idno type="RBID">pubmed:30630227</idno><idno type="pmid">30630227</idno><idno type="doi">10.3760/cma.j.issn.0578-1310.2019.01.007</idno><idno type="wicri:Area/PubMed/Corpus">000071</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000071</idno><idno type="wicri:Area/PubMed/Curation">000071</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000071</idno><idno type="wicri:Area/PubMed/Checkpoint">000018</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000018</idno><idno type="wicri:Area/Ncbi/Merge">000488</idno><idno type="wicri:Area/Ncbi/Curation">000488</idno><idno type="wicri:Area/Ncbi/Checkpoint">000488</idno><idno type="wicri:doubleKey">0578-1310:2019:Liu J:genetic:variants:in</idno><idno type="wicri:Area/Main/Merge">000262</idno><idno type="wicri:Area/Main/Curation">000262</idno><idno type="wicri:Area/Main/Exploration">000262</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].</title><author><name sortKey="Liu, J" sort="Liu, J" uniqKey="Liu J" first="J" last="Liu">J. Liu</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021</wicri:regionArea><wicri:noRegion>Nanning 530021</wicri:noRegion></affiliation></author><author><name sortKey="Chen, J H" sort="Chen, J H" uniqKey="Chen J" first="J H" last="Chen">J H Chen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026</wicri:regionArea><placeName><settlement type="city">Shenzhen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Wang, Y Q" sort="Wang, Y Q" uniqKey="Wang Y" first="Y Q" last="Wang">Y Q Wang</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025</wicri:regionArea><wicri:noRegion>Suzhou 215025</wicri:noRegion></affiliation></author><author><name sortKey="Nong, G M" sort="Nong, G M" uniqKey="Nong G" first="G M" last="Nong">G M Nong</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021</wicri:regionArea><wicri:noRegion>Nanning 530021</wicri:noRegion></affiliation></author><author><name sortKey="Zheng, Y J" sort="Zheng, Y J" uniqKey="Zheng Y" first="Y J" last="Zheng">Y J Zheng</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026</wicri:regionArea><placeName><settlement type="city">Shenzhen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Hao, C L" sort="Hao, C L" uniqKey="Hao C" first="C L" last="Hao">C L Hao</name><affiliation wicri:level="1"><nlm:affiliation>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025</wicri:regionArea><wicri:noRegion>Suzhou 215025</wicri:noRegion></affiliation></author></analytic><series><title level="j">Zhonghua er ke za zhi = Chinese journal of pediatrics</title><idno type="ISSN">0578-1310</idno><imprint><date when="2019" type="published">2019</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Glucocorticoids (therapeutic use)</term><term>Humans</term><term>Infant</term><term>Lung Diseases, Interstitial (drug therapy)</term><term>Lung Diseases, Interstitial (genetics)</term><term>Mutation</term><term>Protein C (genetics)</term><term>Pulmonary Surfactant-Associated Protein C (genetics)</term><term>Pulmonary Surfactants</term><term>Retrospective Studies</term><term>Surface-Active Agents</term><term>Treatment Outcome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Enfant</term><term>Glucocorticoïdes (usage thérapeutique)</term><term>Humains</term><term>Mutation</term><term>Nourrisson</term><term>Pneumopathies interstitielles (génétique)</term><term>Pneumopathies interstitielles (traitement médicamenteux)</term><term>Protéine C (génétique)</term><term>Protéine C associée au surfactant pulmonaire (génétique)</term><term>Résultat thérapeutique</term><term>Surfactants pulmonaires</term><term>Tensioactifs</term><term>Études rétrospectives</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein C</term><term>Pulmonary Surfactant-Associated Protein C</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Glucocorticoids</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lung Diseases, Interstitial</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Pneumopathies interstitielles</term><term>Protéine C</term><term>Protéine C associée au surfactant pulmonaire</term></keywords><keywords scheme="MESH" qualifier="traitement médicamenteux" xml:lang="fr"><term>Pneumopathies interstitielles</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Glucocorticoïdes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Humans</term><term>Infant</term><term>Mutation</term><term>Pulmonary Surfactants</term><term>Retrospective Studies</term><term>Surface-Active Agents</term><term>Treatment Outcome</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Enfant</term><term>Humains</term><term>Mutation</term><term>Nourrisson</term><term>Résultat thérapeutique</term><term>Surfactants pulmonaires</term><term>Tensioactifs</term><term>Études rétrospectives</term></keywords></textClass></profileDesc></teiHeader><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></TEI><affiliations><list><country><li>République populaire de Chine</li></country><region><li>Guangdong</li></region><settlement><li>Shenzhen</li></settlement></list><tree><country name="République populaire de Chine"><noRegion><name sortKey="Liu, J" sort="Liu, J" uniqKey="Liu J" first="J" last="Liu">J. Liu</name></noRegion><name sortKey="Chen, J H" sort="Chen, J H" uniqKey="Chen J" first="J H" last="Chen">J H Chen</name><name sortKey="Hao, C L" sort="Hao, C L" uniqKey="Hao C" first="C L" last="Hao">C L Hao</name><name sortKey="Nong, G M" sort="Nong, G M" uniqKey="Nong G" first="G M" last="Nong">G M Nong</name><name sortKey="Wang, Y Q" sort="Wang, Y Q" uniqKey="Wang Y" first="Y Q" last="Wang">Y Q Wang</name><name sortKey="Zheng, Y J" sort="Zheng, Y J" uniqKey="Zheng Y" first="Y J" last="Zheng">Y J Zheng</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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