Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study.

ABSTRACT:

Introduction

Fabry disease (FD) is a lysosomal storage disorder leading to decreased α-galactosidase A enzyme activity and subsequent abnormal accumulation of glycosphingolipids in various organs. Although histological evidence of lung involvement has been demonstrated, the functional impact of these changes is less clear.

Materials and methods

Adult patients with FD who had yearly pulmonary function tests (PFT) at two centers from 1999 thru 2015 were eligible for this observational study. Primary outcome measures were the change in forced expiratory volume in the first second (FEV1) and FEV1/FVC over time. As secondary outcome we investigated sex, smoking, enzyme replacement therapy (ERT), residual enzyme activity, and Mainz Severity Score Index as possible predictors.

R

SUBMITTER: Franzen DP 

PROVIDER: S-EPMC5526574 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature