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Background: Fabry disease is an X-linked inheritance lysosomal storage disorder caused by mutations in the GLA gene and a deficiency of the α-galactosidase A enzyme. Globotriaosylsphingosine deposition causes tissue fibrosis, and eventual organ failure. Guidelines recommend screening for Fabry disease in high-risk populations, such as individuals with familial early-diagnosed kidney disease and kidney failure, with replacement therapy. This approach enables the identification of affected family members at earlier stages, before the development of chronic organ damage. This study aimed to investigate the prevalence of Fabry disease in patients with proteinuria and chronic kidney disease, and to report a novel mutation found in a patient diagnosed with Fabry disease, adding to the existing literature.
Methods: We screened 494 patients with chronic kidney disease (proteinuria or decreased kidney function) and 23 patients with a family history of Fabry disease mutation. Patients with mutations underwent electrocardiography, echocardiography, cardiac magnetic resonance imaging, and electromyography.
Results: A total of 3 patients (0.6%) were diagnosed with Fabry disease, among whom 1 patient exhibited a novel Fabry mutation (c.645T>A(p.N215K)). Fabry disease mutation was detected in 1 (0.64%) of 155 patients with proteinuria. Eight patients with Fabry mutation were identified in family screening.
Conclusion: The screening for Fabry disease holds significant importance in promptly diagnosing and treating individuals with proteinuria or chronic kidney disease. Our evidence-based findings provide evidence supporting the pathogenic nature of the newly identified N215K mutation.
Cite this article as: Demirelli B, Boztepe B, Öğütmen MB. Fabry disease screening in patients with proteinuria or chronic kidney disease and defning a novel mutation: A single-center experience. Turk J Nephrol. 2024;33(2):199-207.