Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task.

ABSTRACT:

Introduction

Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation.

Objectives

to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named "Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil".

Methods

a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic te

SUBMITTER: Sodre LSS 

PROVIDER: S-EPMC8061964 | biostudies-literature | 2021 Jan-Mar

REPOSITORIES: biostudies-literature