Department of Endocrinology and Metabolism, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Institute of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Chron Respir Dis. 2024 Jan-Dec;21:14799731231221821. doi: 10.1177/14799731231221821.
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.
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.
A cross-sectional retrospective cohort study of 86 adult patients enrolled in one or both international patient registry databases for Fabry disease, or 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.
Seventeen patients (20%) showed obstructive airflow limitation and 7 (8%) a restrictive lung deficiency. Smoking status ( = .016) and MSSI ( < .001) were associated with increasing obstructive airway limitation.
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.
X 连锁遗传疾病法布里病是由于溶酶体酶α-半乳糖苷酶 A 缺乏引起的，Globotriaosylceramide 在包括上、下呼吸道在内的多个器官中逐渐积累。
评估丹麦国家法布里队列中首次进行的肺功能测试（PFT）时的肺功能，并确定受影响的肺功能变量的患病率。
对 86 名成年患者进行了一项横断面回顾性队列研究，这些患者纳入了一个或两个国际患者登记数据库中的法布里病患者，或至少进行了一次 PFT。计算了美因茨严重程度评分指数（MSSI）来确定疾病严重程度。通过多元回归调整了与气道疾病发生相关的重要变量来检查肺功能变量。
17 名患者（20%）表现出阻塞性气流受限，7 名患者（8%）表现出限制性肺缺陷。吸烟状况（ =.016）和 MSSI（ <.001）与阻塞性气道限制的增加有关。
丹麦国家法布里队列中受影响的肺功能患病率为 28%。具有典型基因突变的患者经常出现肺功能下降，无论其吸烟状况如何，与疾病严重程度有显著关系。
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