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    The Frequency of Fabry Disease in Acute Stroke Patients with Renal Insufficiency in Sakarya Province
    (Düzce Üniversitesi, 2023) Sayan, Saadet; Kotan, Dilcan; Çiçekli, Esen; Alemdar, Murat
    Aim: This study aimed to investigate the frequency, clinical and genetic characteristics, and therapeutic options associated with Fabry disease (FD) in individuals with acute stroke and concomitant renal insufficiency.Material and Methods: An FD screening was performed on adult patients with renal dysfunction who were admitted to the neurology clinic due to acute stroke between 2015 and 2021. Screening was performed by a leukocyte ?-galactosidase A (?-Gal A) enzyme activity assay using dried blood spot (DBS) samples from male patients. In cases where the enzyme activity was less than 2.5 nmol/ml/h, genetic analysis was performed. Female patients underwent direct genetic analysis.Results: Renal dysfunction was detected in 39 ischemic stroke patients and 5 hemorrhagic stroke patients out of a total of 401 cases. The enzyme level was found low in only one of the male patients. The c.680G>A (p.R227Q) mutation was observed in this male patient and a female patient. In the later stages of the study, it was realized with the help of pedigree analysis that these two cases were first-degree relatives. The same mutation was also detected in 13 first-degree and 2 second-degree relatives. The frequency of FD in our study group, which included patients with cerebral and renal involvement regardless of consanguinity, was 4.54%.Conclusion: Rapid detection of FD cases can be achieved by screening individuals presenting with multiple end-organ damages. To the best of our knowledge, this study highlights the underemphasized association between renal involvement and stroke in FD.