{"title":"抗胰蛋白酶缺乏症;60 年后仍需进一步了解肺部情况","authors":"R. Stockley, D. Parr","doi":"10.1183/23120541.00139-2024","DOIUrl":null,"url":null,"abstract":"The past 60 years has seen multiple publications related to lung disease in Alph-1 Antitrypsin deficiency largelyreflectingthe pathophysiology, biochemical effect and outcomes of augmentation therapy. However, the complexity of disease phenotype and the impact of the natural history presents problems of patient management, study design and hence interpretation of outcome. Although many National and some International registries exist the lack of consistent in-depth assessment and importantly, the impact of augmentation therapylikelyinfluences our perception of the true natural history.Development of new therapeutic strategies, and even assessment of the role and efficacy of augmentation remain a challenge as powering such studies for conventional COPD outcomes is impractical due to relative rarity of the genetic condition and the presence ofclinicalphenotypic variation.The current review approaches these issues, discusses the nature and complexity of assessing patient variability, and provides guidance on further studies required to address them.","PeriodicalId":11739,"journal":{"name":"ERJ Open Research","volume":null,"pages":null},"PeriodicalIF":4.3000,"publicationDate":"2024-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Antitrypsin deficiency; still more to learn about the lung after 60 years\",\"authors\":\"R. Stockley, D. Parr\",\"doi\":\"10.1183/23120541.00139-2024\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The past 60 years has seen multiple publications related to lung disease in Alph-1 Antitrypsin deficiency largelyreflectingthe pathophysiology, biochemical effect and outcomes of augmentation therapy. However, the complexity of disease phenotype and the impact of the natural history presents problems of patient management, study design and hence interpretation of outcome. Although many National and some International registries exist the lack of consistent in-depth assessment and importantly, the impact of augmentation therapylikelyinfluences our perception of the true natural history.Development of new therapeutic strategies, and even assessment of the role and efficacy of augmentation remain a challenge as powering such studies for conventional COPD outcomes is impractical due to relative rarity of the genetic condition and the presence ofclinicalphenotypic variation.The current review approaches these issues, discusses the nature and complexity of assessing patient variability, and provides guidance on further studies required to address them.\",\"PeriodicalId\":11739,\"journal\":{\"name\":\"ERJ Open Research\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.3000,\"publicationDate\":\"2024-05-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ERJ Open Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1183/23120541.00139-2024\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"RESPIRATORY SYSTEM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ERJ Open Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1183/23120541.00139-2024","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
Antitrypsin deficiency; still more to learn about the lung after 60 years
The past 60 years has seen multiple publications related to lung disease in Alph-1 Antitrypsin deficiency largelyreflectingthe pathophysiology, biochemical effect and outcomes of augmentation therapy. However, the complexity of disease phenotype and the impact of the natural history presents problems of patient management, study design and hence interpretation of outcome. Although many National and some International registries exist the lack of consistent in-depth assessment and importantly, the impact of augmentation therapylikelyinfluences our perception of the true natural history.Development of new therapeutic strategies, and even assessment of the role and efficacy of augmentation remain a challenge as powering such studies for conventional COPD outcomes is impractical due to relative rarity of the genetic condition and the presence ofclinicalphenotypic variation.The current review approaches these issues, discusses the nature and complexity of assessing patient variability, and provides guidance on further studies required to address them.
期刊介绍:
ERJ Open Research is a fully open access original research journal, published online by the European Respiratory Society. The journal aims to publish high-quality work in all fields of respiratory science and medicine, covering basic science, clinical translational science and clinical medicine. The journal was created to help fulfil the ERS objective to disseminate scientific and educational material to its members and to the medical community, but also to provide researchers with an affordable open access specialty journal in which to publish their work.