Murat GÜLTEKİN, Ayşe Çağlar SARILAR, Recep BAYDEMİR, Mehmet Fatih GÖL, Mehmet Fatih YETKİN

İSKEMİK İNMESİ OLAN FABRY HASTASI: OLGU SUNUMU Fabry Patient With Ischemic Stroke: Case Report

ÖZET Fabry hastalığı (FH), alfa galaktosidaz A (GLA) genindeki mutasyon nedeniyle oluşan, X’e bağlı kalıtılan lizozomal depo hastalığıdır. Hastalığın atipik formunda klinik semptomlar daha geç yaşlarda ortaya çıkar ve en sık görülen tablolardan biri serebrovasküler hastalıklardır (SVH). Özellikle genç erişkin SVH’ı olan hastalarda etyolojik neden olarak FH’nın akılda tutulması için bu vaka sunulmuştur. Anahtar Kelimeler: Fabry Hastalığı; Serebrovasküler Hastalık, Genç SVH ABSTRACT Fabry disease (FD) is an X-linked inherited lysosomal storage disease caused by mutations in the alpha galactosidase A (GLA) gene. In atypical form of the disease, clinical symptoms occur at a later age and one of the most common conditions is cerebrovascular disease (CVD). This case is presented to keep FD in mind as the etiological cause, especially in patients with young adult CVD. Keywords: Fabry Disease, Cerebrovascular Disease, Young CVD

Anahtar Kelimeler:

İSKEMİK İNMESİ OLAN FABRY HASTASI, OLGU SUNUMU, Fabry Patient With Ischemic Stroke

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