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09 May 2016 : Case report  Turkey

p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

Challenging differential diagnosis, Unusual or unexpected effect of treatment, Diagnostic / therapeutic accidents, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis), Rare coexistence of disease or pathology

Ruya OzelsancakAB, Bulent UyarBD

DOI: 10.12659/AJCR.897024

Am J Case Rep 2016; 17:315-319

Abstract

BACKGROUND: 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.

CASE REPORT: 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.

CONCLUSIONS: 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.

Keywords: Fabry Disease - genetics, Codon, Nonsense, Glomerulosclerosis, Focal Segmental - etiology, Pedigree, Phenotype, alpha-Galactosidase - genetics

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923