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      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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          Abstract

          Background/Aims: 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. Methods: 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. Results: 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. Conclusion: 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.

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          Author and article information

          Journal
          KBR
          Kidney Blood Press Res
          10.1159/issn.1420-4096
          Kidney and Blood Pressure Research
          S. Karger AG
          1420-4096
          1423-0143
          2018
          November 2018
          31 October 2018
          : 43
          : 5
          : 1636-1645
          Affiliations
          [_a] aDivision of Nephrology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei, Taiwan
          [_b] bMackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan
          [_c] cDepartment of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
          [_d] dGraduate Institute of Biomedical Science, Mackay Medical College, New Taipei City, Taiwan
          [_e] eDepartment of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan
          [_f] fGraduate Institute of Medical Sciences and Department of Pharmacology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan
          Author notes
          *Chih-Jen Wu, MD, PhD, Department of Medicine, Mackay Medical College,, No. 46, Sec. 3, Zhongzheng Rd, Sanzhi District, New Taipei City 252 (Taiwan), Tel. + 886 2 2636 0303 ext 1201, Fax + 886 2 2543 3642, E-Mail yaliwcj@gmail.com
          Article
          494678 Kidney Blood Press Res 2018;43:1636–1645
          10.1159/000494678
          30380558
          ff98fbec-d0d1-438c-bb78-31434c24db69
          © 2018 The Author(s). Published by S. Karger AG, Basel

          This article is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND). Usage and distribution for commercial purposes as well as any distribution of modified material requires written permission. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

          History
          : 12 July 2018
          : 19 October 2018
          Page count
          Figures: 4, Tables: 1, Pages: 10
          Categories
          Original Paper

          Cardiovascular Medicine,Nephrology
          Chronic kidney disease,Fabry disease,High-risk screening
          Cardiovascular Medicine, Nephrology
          Chronic kidney disease, Fabry disease, High-risk screening

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