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Article

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

Jornal brasileiro de nefrologia - 1 Jan 2000

Sodré Luciana Senra de Souza, Huaira Rosália Maria Nunes Henriques, Colugnati Fernando Antônio Basile, Carminatti Moises, Braga Luciane Senra de Souza, Coutinho Marcelo Paula, Fernandes Natália Maria da Silva

Abstract excerpt

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)...

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Identifiers

PMID: 32930322
DOI: 10.1590/2175-8239-JBN-2020-0080
PMCID: PMC8061964

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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