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
Journal
Kidney and Blood Pressure Research
Journal Volume
43
Journal Issue
5
Pages
1636-1645
Date Issued
2018
Author(s)
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. ? 2018 The Author(s). Published by S. Karger AG, Basel.
SDGs
Other Subjects
alpha galactosidase; agalsidase alfa; alpha galactosidase; isoenzyme; recombinant protein; adult; aged; Article; chronic kidney failure; clinical feature; controlled study; cross-sectional study; delayed diagnosis; dried blood spot testing; end stage renal disease; enzyme activity; enzyme replacement; Fabry disease; false negative result; gene mutation; genetic analysis; GLA gene; hemodialysis; high risk population; human; human tissue; incidence; kidney biopsy; major clinical study; male; prevalence; priority journal; screening; Taiwan; blood; chronic kidney failure; differential diagnosis; Fabry disease; genetics; mass screening; middle aged; very elderly; young adult; Adult; Aged; Aged, 80 and over; alpha-Galactosidase; Diagnosis, Differential; Fabry Disease; Humans; Isoenzymes; Kidney Failure, Chronic; Male; Mass Screening; Middle Aged; Prevalence; Recombinant Proteins; Renal Insufficiency, Chronic; Taiwan; Young Adult
Publisher
S. Karger AG
Type
journal article