{"title":"支气管肺发育不良的遗传学:最新进展。","authors":"Pascal M. Lavoie , Jonathan H. Rayment","doi":"10.1016/j.semperi.2023.151811","DOIUrl":null,"url":null,"abstract":"<div><p><span><span><span>Bronchopulmonary dysplasia (BPD) is a multi-factorial disease that results from multiple clinical factors, including lung immaturity, </span>mechanical ventilation, </span>oxidative stress<span>, pulmonary congestion due to increasing cardiac blood shunting, nutritional and immunological factors. Twin studies have indicated that susceptibility to BPD can be strongly inherited in some settings. Studies have reported associations between common genetic variants and BPD in preterm infants. Recent genomic studies have highlighted a potential role for molecular pathways involved in inflammation and lung development in affected infants. Rare mutations in genes encoding the lipid transporter ATP-binding cassette, sub-family A, member 3 (</span></span><em>ABCA3</em><span><span> gene) which is involved in surfactant synthesis in alveolar type II cells, as well as </span>surfactant protein B (</span><em>SFTPB</em>) and C (<em>SFTPC</em><span>) can also result in severe form of neonatal-onset interstitial lung diseases and may also potentially affect the course of BPD. This chapter summarizes the current state of knowledge on the genetics of BPD.</span></p></div>","PeriodicalId":21761,"journal":{"name":"Seminars in perinatology","volume":null,"pages":null},"PeriodicalIF":3.2000,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetics of bronchopulmonary dysplasia: An update\",\"authors\":\"Pascal M. Lavoie , Jonathan H. Rayment\",\"doi\":\"10.1016/j.semperi.2023.151811\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p><span><span><span>Bronchopulmonary dysplasia (BPD) is a multi-factorial disease that results from multiple clinical factors, including lung immaturity, </span>mechanical ventilation, </span>oxidative stress<span>, pulmonary congestion due to increasing cardiac blood shunting, nutritional and immunological factors. Twin studies have indicated that susceptibility to BPD can be strongly inherited in some settings. Studies have reported associations between common genetic variants and BPD in preterm infants. Recent genomic studies have highlighted a potential role for molecular pathways involved in inflammation and lung development in affected infants. Rare mutations in genes encoding the lipid transporter ATP-binding cassette, sub-family A, member 3 (</span></span><em>ABCA3</em><span><span> gene) which is involved in surfactant synthesis in alveolar type II cells, as well as </span>surfactant protein B (</span><em>SFTPB</em>) and C (<em>SFTPC</em><span>) can also result in severe form of neonatal-onset interstitial lung diseases and may also potentially affect the course of BPD. This chapter summarizes the current state of knowledge on the genetics of BPD.</span></p></div>\",\"PeriodicalId\":21761,\"journal\":{\"name\":\"Seminars in perinatology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2023-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Seminars in perinatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0146000523001143\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in perinatology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0146000523001143","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Bronchopulmonary dysplasia (BPD) is a multi-factorial disease that results from multiple clinical factors, including lung immaturity, mechanical ventilation, oxidative stress, pulmonary congestion due to increasing cardiac blood shunting, nutritional and immunological factors. Twin studies have indicated that susceptibility to BPD can be strongly inherited in some settings. Studies have reported associations between common genetic variants and BPD in preterm infants. Recent genomic studies have highlighted a potential role for molecular pathways involved in inflammation and lung development in affected infants. Rare mutations in genes encoding the lipid transporter ATP-binding cassette, sub-family A, member 3 (ABCA3 gene) which is involved in surfactant synthesis in alveolar type II cells, as well as surfactant protein B (SFTPB) and C (SFTPC) can also result in severe form of neonatal-onset interstitial lung diseases and may also potentially affect the course of BPD. This chapter summarizes the current state of knowledge on the genetics of BPD.
期刊介绍:
The purpose of each issue of Seminars in Perinatology is to provide authoritative and comprehensive reviews of a single topic of interest to professionals who care for the mother, the fetus, and the newborn. The journal''s readership includes perinatologists, obstetricians, pediatricians, epidemiologists, students in these fields, and others. Each issue offers a comprehensive review of an individual topic, with emphasis on new developments that will have a direct impact on their practice.