[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].
Identifieur interne : 000018 ( PubMed/Checkpoint ); précédent : 000017; suivant : 000019[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></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><pubmed><MedlineCitation Status="MEDLINE" IndexingMethod="Curated" Owner="NLM"><PMID Version="1">30630227</PMID><DateCompleted><Year>2019</Year><Month>04</Month><Day>01</Day></DateCompleted><DateRevised><Year>2019</Year><Month>04</Month><Day>01</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0578-1310</ISSN><JournalIssue CitedMedium="Print"><Volume>57</Volume><Issue>1</Issue><PubDate><Year>2019</Year><Month>Jan</Month><Day>02</Day></PubDate></JournalIssue><Title>Zhonghua er ke za zhi = Chinese journal of pediatrics</Title><ISOAbbreviation>Zhonghua Er Ke Za Zhi</ISOAbbreviation></Journal><ArticleTitle>[Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].</ArticleTitle><Pagination><MedlinePgn>21-26</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.3760/cma.j.issn.0578-1310.2019.01.007</ELocationID><Abstract><AbstractText><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.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Liu</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chen</LastName><ForeName>J H</ForeName><Initials>JH</Initials><AffiliationInfo><Affiliation>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wang</LastName><ForeName>Y Q</ForeName><Initials>YQ</Initials><AffiliationInfo><Affiliation>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nong</LastName><ForeName>G M</ForeName><Initials>GM</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zheng</LastName><ForeName>Y J</ForeName><Initials>YJ</Initials><AffiliationInfo><Affiliation>Department of Respiratory Disease, Shenzhen Children's Hospital, Shenzhen 518026, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hao</LastName><ForeName>C L</ForeName><Initials>CL</Initials><AffiliationInfo><Affiliation>Department of Respiratory Disease, Children's Hospital, Suzhou University, Suzhou 215025, China.</Affiliation></AffiliationInfo></Author></AuthorList><Language>chi</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>China</Country><MedlineTA>Zhonghua Er Ke Za Zhi</MedlineTA><NlmUniqueID>0417427</NlmUniqueID><ISSNLinking>0578-1310</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005938">Glucocorticoids</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011486">Protein C</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D037721">Pulmonary Surfactant-Associated Protein C</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D011663">Pulmonary Surfactants</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D013501">Surface-Active Agents</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005938" MajorTopicYN="N">Glucocorticoids</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017563" MajorTopicYN="Y">Lung Diseases, Interstitial</DescriptorName><QualifierName UI="Q000188" MajorTopicYN="N">drug therapy</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011486" MajorTopicYN="N">Protein C</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D037721" MajorTopicYN="Y">Pulmonary Surfactant-Associated Protein C</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011663" MajorTopicYN="N">Pulmonary Surfactants</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012189" MajorTopicYN="N">Retrospective Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013501" MajorTopicYN="N">Surface-Active Agents</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016896" MajorTopicYN="N">Treatment Outcome</DescriptorName></MeshHeading></MeshHeadingList><OtherAbstract Type="Publisher" Language="chi"><AbstractText><b>目的：</b> 探讨肺表面活性物质蛋白C基因（SFTPC）218位点变异相关性婴幼儿肺间质疾病患儿的临床特点、转归及影响因素。 <b>方法：</b> 回顾性分析广西医科大学第一附属医院儿科、深圳市儿童医院呼吸科及苏州大学附属儿童医院呼吸科2013年1月—2016年12月收治的7例SFTPC基因218位点变异相关性婴幼儿肺间质疾病的临床资料及转归。 <b>结果：</b> 7例患儿均为足月儿，4例3月龄内发病，2例1岁以后发病，1例3月龄至1岁之间发病，临床以咳嗽、气促、呼吸困难等为主要表现，伴生长发育受限，无法脱离鼻导管给氧，血气分析提示低氧血症，4例慢性缺氧、杵状指。胸部CT均表现两肺弥漫性磨玻璃影。3例血巨细胞病毒（CMV）免疫球蛋白M或CMV-DNA阳性。7例患儿变异的部位均在exon3，其中5例患儿为SFTPC基因c.218T>C，p.lle73Thr（杂合变异），2例患儿为SFTPC基因c.218T>A，p.lle73Asn（纯合变异），1例合并ABCA3基因变异。4例患儿单纯应用泼尼松治疗，1例应用泼尼松联合羟氯喹治疗，2例对症治疗。3例死亡，3例好转，1例失访。 <b>结论：</b> SFTPC基因218位点变异相关的婴幼儿肺间质性疾病的临床表现特异性不强，其严重程度及转归可能受到病毒感染等多因素影响，单独糖皮质激素治疗对部分患儿可能作用有限。.</AbstractText></OtherAbstract><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Genes</Keyword><Keyword MajorTopicYN="N">Infants</Keyword><Keyword MajorTopicYN="N">Interstitial lung disease</Keyword><Keyword MajorTopicYN="N">Mutations</Keyword><Keyword MajorTopicYN="N">Pulmonary surfactant-related proteins</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2019</Year><Month>1</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2019</Year><Month>1</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2019</Year><Month>4</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">30630227</ArticleId><ArticleId IdType="doi">10.3760/cma.j.issn.0578-1310.2019.01.007</ArticleId></ArticleIdList></PubmedData></pubmed><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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|area= ChloroquineV1
|flux= PubMed
|étape= Checkpoint
|type= RBID
|clé= pubmed:30630227
|texte= [Genetic variants in the surfactant protein C gene 218 site are associated with pediatric interstitial lung disease: seven cases study].
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:30630227" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a ChloroquineV1
| This area was generated with Dilib version V0.6.33. |  |