Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.

ABSTRACT:

Background

Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatology is rare. The majority of children may show non-specific symptoms, including in the musculoskeletal system. The prevalence of FD among juvenile idiopathic arthritis (JIA) patients is unknown.

Objective

This study aimed to identify the frequency of FD in a JIA cohort, characterizing early clinical symptoms, enzyme titers, and GLA genotyping.

Methods

Children with JIA followed in a tertiary Children Hospital cohort were selected. Clinical, laboratory and familiar information were recorded. Molecular genetic testing to detect GLA gene mutations was perfo

SUBMITTER: Paim-Marques L 

PROVIDER: S-EPMC8199813 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature