Epidemiological Study of Fabry Disease Screening in Chronic Kidney Disease Patients

Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme α-Gal A resulting from mutations affecting the GLA gene. It is characterized by severe multi-systemic involvement that leads to major organ failure and premature death in affected men and in some women. The α-Gal A deficiency results in progressive accumulation of un-degraded glycosphingolipids, predominantly globotriaosylceramide (Gb3), within cell lysosomes throughout the body. In patients at the second or third decade, progressive proteinuria, decline in glomerular filtration rate (GFR), and tubular damage occur usually, and renal failure develops in the fourth decade. Life-threatening renal, cardiac, and cerebrovascular diseases are added in later decades. In addition to that, Fabry disease patient will eventually face end-stage renal disease (ESRD) which was the most common cause of death in Fabry patients before the development of dialysis and renal transplantation. Thus it is critical to identify Fabry patient as early as possible, before reaching the stage of ESRD. Additionally, early intervention of enzyme replacement therapy for Fabry Disease patient which will help the patient to preserve a better renal function and benefit from treatment outcome. Apart from that today there is only one study published from Turkey for Fabry disease screening in CKD patient where they have screened 1453 and found that the overall prevalence of Fabry disease in CKD patient was found to be 0.2% , 3/1453 (in which 0.4% in 656 male, 0.0% in 783 female). However, there was no information available within the Asia region thereby a very low Fabry disease awareness and diagnostic awareness among nephrologist in Taiwan. Therefore in the present study the investigators are aiming to investigate the prevalence of Fabry disease in the CKD population (CKD stage 1 \~ 5) by conducting the first and largest high risk screening prevalence study among 2,000 CKD patients over 3 years