Sakarya İli Akut İskemik İnme ve Kronik Renal Yetmezlikli Olgularda Fabry Hastalığı Sıklığı

Abstract

Amaç: Bu çalışmada, böbrek yetmezliği olan akut inme hastalarında Fabry Hastalığı (FH) sıklığı ile klinik ve genetik özelliklerinin ve tedavi seçeneklerinin araştırılması amaçlandı. Gereç ve Yöntemler: 2015 ve 2021 yılları arasında nöroloji kiniğine akut inme nedeniyle yatırılan ve böbrek fonksiyon bozukluğu tespit edilen erişkin hastalarda FH taraması yapıldı. Tarama, erkek hastalardan alınan bir kuru kan lekesi (dried blood spot, DBS) örnekleri ile lökosit α-galactosidase A (α-Gal A) enzimatik aktivite değerlendirmesine ile yapıldı. Enzim aktivitesi 2,5 nmol/ml/saat'in altında tespit edilen vakalarda genetik inceleme yapıldı. Kadın hastalarda ise doğrudan genetik analiz uygulandı. Bulgular: Toplam 401 olgudan 39 iskemik inme olgusunda ve 5 hemorajik inme olgusunda renal disfonksiyon saptandı. Erkek hastalardan sadece birinde enzim düzeyi düşük bulundu. Bu erkek hastada ve bir de kadın hastada c.680G>A (p.R227Q) mutasyonu tespit edildi. Çalışmanın ilerleyen aşamalarında pedigri analizi ile bu iki olgunun birinci derece akraba olduğu fark edildi. Aynı mutasyon 13 birinci derece ve 2 ikinci derece akrabada da tespit edildi. Akraba evliliğinden bağımsız olarak hem beyin hem de böbrek tutulumu olan hastaları içeren çalışma grubumuzda FD sıklığı %4,54 idi. Sonuç: Çoklu uç organ hasarı olan bireylerin taranması ile FH olgularının erken tespitinde başarı sağlanabilir. Bildiğimiz kadarıyla bu çalışma, FH'da böbrek tutulumu ve inme arasında kapsamlı bir şekilde vurgulanmamış olan bu ilişkiyi vurgulamaktadır.

Keywords

• fabry hastalığı
• böbrek yetmezliği
• serebrovasküler hastalık

The Frequency of Fabry Disease in Acute Stroke Patients with Renal Insufficiency in Sakarya Province

Abstract

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.

Keywords

• fabry disease
• renal insufficiency
• cerebrovascular disease

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