PMID: 27156739May 10, 2016

p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

The American Journal of Case Reports
Ruya Ozelsancak, Bulent Uyar

Abstract

Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband's mother, sister, and daughter had the same mutation with different phenotypes. Levels of α-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease.

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Related Concepts

Beano
Fabry Disease
Hyalinosis, Segmental Glomerular
Genealogical Tree
Mutation, Nonsense
Heart
Hereditary Diseases
Male Population Group
Woman
Globotriaosylceramide

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