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Kidney Blood Press Res. 2018;43(5):1636-1645. doi: 10.1159/000494678. Epub 2018 Oct 31.

Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center.

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Division of Nephrology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei, Taiwan.
Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
Graduate Institute of Biomedical Science, Mackay Medical College, New Taipei City, Taiwan.
Division of Nephrology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei,
Department of Medical Research, China Medical University Hospital, China Medical University, Taichung,
Graduate Institute of Medical Sciences and Department of Pharmacology, School of Medicine, College of Medicine, Taipei Medical University, Taipei,



Fabry disease (FD), a rare x-lined genetic disorder is a cause of renal deterioration. The phenotype of FD is highly variable and nonspecific, and correct diagnosis has always been delayed. We aimed to explore the prevalence and clinical presentation of FD in this high-risk male population in a Northern Taiwan medical center.


This is the first study to survey the incidence of FD in this high-risk population through the platform of a chronic kidney disease (CKD) education program in Asia. A total of 1,012 male patients with unknown CKD causes were screened using an assay of alpha-galactosidase A activity (α-Gal A) by dried blood spots (DBS). A final GLA gene analysis was also done for those with low enzyme activity.


We identified two new patients with classic FD and four patients with late-onset FD. One novel GLA mutation with c.413 G>A was found in one classic FD patient (index 5). The prevalence of FD is about 0.59 % (6 in 1,012) in the high-risk population group with CKD. The clinical symptoms of FD patients are nonspecific except in those with various degrees of renal failure. Those patients' correct diagnosis was delayed, taking years and even decades. Three patients received enzyme replacement therapy and one started regular hemodialysis due to persistent renal function deterioration. Another two patients were found from family screening through a new index. In addition, a false negative result occurred in one patient who was proved to have FD by his kidney pathology as determined by this screening.


FD is not such as rare a disease and its prevalence is greater in this high-risk male population. Clinicians need to be aware that FD should be included in the differential diagnosis in CKD with unknown etiology.


Chronic kidney disease; Fabry disease; High-risk screening

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