Respiratory impairments in patients suffering from Fabry disease - A cross-sectional study.

IF 3.5 3区医学 Q2 RESPIRATORY SYSTEM

Chronic Respiratory Disease Pub Date : 2024-01-01 DOI:10.1177/14799731231221821

Huma Ahmed, Vibeke Backer, Grigoris Effraimidis, Åse Krogh Rasmussen, Caroline Michaela Kistorp, Ulla Feldt-Rasmussen

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引用次数: 0

Abstract

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.

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法布里病患者的呼吸障碍--一项横断面研究。

背景：法布里病（Fabry disease）是一种遗传性X连锁疾病，由溶酶体酶α-半乳糖苷酶A（α-galactosidase A）缺陷引起，在包括上呼吸道和下呼吸道在内的多个器官中进行性积聚球藻糖基甘油酰胺：评估丹麦全国法布里队列首次进行肺功能测试（PFT）时的肺功能，并确定受影响肺功能变量的患病率：这是一项横断面回顾性队列研究，研究对象是在一个或两个法布里病国际患者登记数据库、法布里登记数据库或FollowME中登记并至少进行过一次肺功能测试的86名成年患者。通过计算美因茨严重程度评分指数（MSSI）来确定疾病的严重程度。通过多变量回归对肺功能变量进行了检查，并对引发气道疾病的重要变量进行了调整：结果：17 名患者（20%）表现为阻塞性气流受限，7 名患者（8%）表现为限制性肺功能缺陷。吸烟状态（p = .016）和 MSSI（p < .001）与阻塞性气道受限的增加有关：结论：在丹麦法布里国家队列中，肺功能受影响的发病率为 28%。无论吸烟与否，典型基因变异患者的肺功能经常下降，这与疾病的严重程度有显著关系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Chronic Respiratory Disease RESPIRATORY SYSTEM-

CiteScore

5.90

自引率

7.30%

发文量

审稿时长

11 weeks

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.