Özet:

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 α-galactosidase A (α-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.

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