{"title":"法布里病患者的呼吸障碍--一项横断面研究。","authors":"Huma Ahmed, Vibeke Backer, Grigoris Effraimidis, Åse Krogh Rasmussen, Caroline Michaela Kistorp, Ulla Feldt-Rasmussen","doi":"10.1177/14799731231221821","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>The inherited X-linked disorder, Fabry disease, is caused by deficient lysosomal enzyme α-galactosidase A, with progressive accumulation of globotriaosylceramide in multiple organs including the upper and lower airways.</p><p><strong>Objectives: </strong>To assess pulmonary function at the time of the first pulmonary function test (PFT) performed among the National Danish Fabry cohort and define the prevalence of affected lung function variables.</p><p><strong>Materials and method: </strong>A cross-sectional retrospective cohort study of 86 adult patients enrolled in one or both international patient registry databases for Fabry disease, <i>Fabry Registry</i> or <i>FollowME</i> with at least one PFT. The Mainz Severity Score Index (MSSI) was calculated to determine the disease severity. Lung function variables were examined by multivariate regression adjusted for important variables for developing airway illness.</p><p><strong>Results: </strong>Seventeen patients (20%) showed obstructive airflow limitation and 7 (8%) a restrictive lung deficiency. Smoking status (<i>p</i> = .016) and MSSI (<i>p</i> < .001) were associated with increasing obstructive airway limitation.</p><p><strong>Conclusion: </strong>The prevalence of affected lung function among the National Danish Fabry cohort was 28%. Patients with classic gene variants frequently developed a decrease in lung function regardless of their smoking status, with significant relationship with disease severity.</p>","PeriodicalId":10217,"journal":{"name":"Chronic Respiratory Disease","volume":null,"pages":null},"PeriodicalIF":3.5000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10858660/pdf/","citationCount":"0","resultStr":"{\"title\":\"Respiratory impairments in patients suffering from Fabry disease - A cross-sectional study.\",\"authors\":\"Huma Ahmed, Vibeke Backer, Grigoris Effraimidis, Åse Krogh Rasmussen, Caroline Michaela Kistorp, Ulla Feldt-Rasmussen\",\"doi\":\"10.1177/14799731231221821\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>The inherited X-linked disorder, Fabry disease, is caused by deficient lysosomal enzyme α-galactosidase A, with progressive accumulation of globotriaosylceramide in multiple organs including the upper and lower airways.</p><p><strong>Objectives: </strong>To assess pulmonary function at the time of the first pulmonary function test (PFT) performed among the National Danish Fabry cohort and define the prevalence of affected lung function variables.</p><p><strong>Materials and method: </strong>A cross-sectional retrospective cohort study of 86 adult patients enrolled in one or both international patient registry databases for Fabry disease, <i>Fabry Registry</i> or <i>FollowME</i> with at least one PFT. The Mainz Severity Score Index (MSSI) was calculated to determine the disease severity. Lung function variables were examined by multivariate regression adjusted for important variables for developing airway illness.</p><p><strong>Results: </strong>Seventeen patients (20%) showed obstructive airflow limitation and 7 (8%) a restrictive lung deficiency. Smoking status (<i>p</i> = .016) and MSSI (<i>p</i> < .001) were associated with increasing obstructive airway limitation.</p><p><strong>Conclusion: </strong>The prevalence of affected lung function among the National Danish Fabry cohort was 28%. Patients with classic gene variants frequently developed a decrease in lung function regardless of their smoking status, with significant relationship with disease severity.</p>\",\"PeriodicalId\":10217,\"journal\":{\"name\":\"Chronic Respiratory Disease\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.5000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10858660/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Chronic Respiratory Disease\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/14799731231221821\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"RESPIRATORY SYSTEM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Chronic Respiratory Disease","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/14799731231221821","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
Respiratory impairments in patients suffering from Fabry disease - A cross-sectional study.
Background: The inherited X-linked disorder, Fabry disease, is caused by deficient lysosomal enzyme α-galactosidase A, with progressive accumulation of globotriaosylceramide in multiple organs including the upper and lower airways.
Objectives: To assess pulmonary function at the time of the first pulmonary function test (PFT) performed among the National Danish Fabry cohort and define the prevalence of affected lung function variables.
Materials and method: A cross-sectional retrospective cohort study of 86 adult patients enrolled in one or both international patient registry databases for Fabry disease, Fabry Registry or FollowME with at least one PFT. The Mainz Severity Score Index (MSSI) was calculated to determine the disease severity. Lung function variables were examined by multivariate regression adjusted for important variables for developing airway illness.
Results: Seventeen patients (20%) showed obstructive airflow limitation and 7 (8%) a restrictive lung deficiency. Smoking status (p = .016) and MSSI (p < .001) were associated with increasing obstructive airway limitation.
Conclusion: The prevalence of affected lung function among the National Danish Fabry cohort was 28%. Patients with classic gene variants frequently developed a decrease in lung function regardless of their smoking status, with significant relationship with disease severity.
期刊介绍:
Chronic Respiratory Disease is a peer-reviewed, open access, scholarly journal, created in response to the rising incidence of chronic respiratory diseases worldwide. It publishes high quality research papers and original articles that have immediate relevance to clinical practice and its multi-disciplinary perspective reflects the nature of modern treatment. The journal provides a high quality, multi-disciplinary focus for the publication of original papers, reviews and commentary in the broad area of chronic respiratory disease, particularly its treatment and management.