Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

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

Add Comment 0 Comments

In Press

Case report  Vietnam

Fibrous Dysplasia of the Parietal Bone with Focal Motor Seizures: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.943718  

0:00

Case report  Saudi Arabia

Regenerative Endodontic Procedure on an Immature Necrotic Molar: A Case Report with a 5-Year Review

Am J Case Rep In Press; DOI: 10.12659/AJCR.944179  

Case report  Italy

Minimally Invasive Surgical Management of Chronic Cough-Induced Rib Fracture Non-Union: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.943222  

Case report  China (mainland)

Recurrent Hypoglycemia After Total Gastrectomy: A Case Report and Literature Analysis

Am J Case Rep In Press; DOI: 10.12659/AJCR.943144  

Most Viewed Current Articles

07 Mar 2024 : Case report  USA 38,492

Neurocysticercosis Presenting as Migraine in the United States

DOI :10.12659/AJCR.943133

Am J Case Rep 2024; 25:e943133

0:00

10 Jan 2022 : Case report  Germany 31,145

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

19 Jul 2022 : Case report  Saudi Arabia 17,755

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

23 Feb 2022 : Case report  USA 17,769

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

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