09 May 2016 : Case report
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 pathologyRuya OzelsancakAB, Bulent UyarBD
Am J Case Rep 2016; 17:315-319
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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