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

Year 2020, Volume: 10 Issue: 4, 119 - 122, 15.12.2020

Murat Gültekin Ayşe Çağlar Sarılar Recep Baydemir Mehmet Fatih Göl Mehmet Fatih Yetkin

Abstract

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

Keywords

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

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