A Case Study of Fabry Nephropathy and Its Progression: the First Reported Case in Malaysia

Abstract

Fabry disease (FD) is a rare metabolic disorder caused by the genetic deficiency of the lysosomal hydrolase alpha-galactosidase A, causing common and serious kidney complications. We report the first case of Fabry disease detected in Malaysia. A 35-year-old man had an incidental finding of proteinuria during routine health screening. His symptoms included frothy urine and intermittent lower limb swelling. Renal biopsy showed features of Fabry’s disease which was confirmed with genetic testing. He had classical hemizygous Fabry disease of c.610 C > T with Fabry nephropathy, cardiomyopathy, and cornea verticillata. He was then started on enzyme replacement therapy (ERT) with agalsidase till date. Proteinuria is the predominant factor in Fabry nephropathy predicting renal disease progression rate. Early Fabry disease diagnosis could prevent kidney disease progression through the timely initiation of treatment which will help enhance the quality of life of the patient, as the disease progresses.