Chronic Cough as the First Clinical Sign of Fabry Disease: A Case Report

• Published in: Curēus (Palo Alto, CA) Vol. 16; no. 7; p. e65716
• Main Authors: Muras-Szwedziak, Katarzyna, Mazurkiewicz, Kacper, Pawlik, Leon, Kaczmarek, Krzysztof
• Format: Journal Article
• Language: English
• Published: United States Cureus Inc 30.07.2024; Cureus
• Subjects: Asthma; Biopsy; Bronchoscopy; Cardiomyopathy; Case reports; Creatinine; Enzymes; Fever; Gastroesophageal reflux; Genetics; Infections; Internal Medicine; Kidney diseases; Kidney transplants; Kinases; Laboratories; Lung diseases; Males; Mutation; Patients; Pulmonology; fabry's disease; alpha-galactosidase a; genetic renal diseases; internal medicine; chronic cough; lysosomal storage disorder

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, which lead to a deficiency of the alpha-galactosidase A enzyme. Pulmonary involvement is one of the possible manifestations of FD, but it is often overlooked and is rarely the only clinical presentation. Chr...