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

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 var

SUBMITTER: Ahmed H 

PROVIDER: S-EPMC10858660 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature