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

Yıl 2020, Cilt: 10 Sayı: 4, 119 - 122, 15.12.2020

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

Öz

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

Kaynakça

• 1. Zarate YA, Hopkin RJ. Fabry's disease. The Lancet. 2008;372(9647):1427-35.
• 2. Salviati A, Burlina AP, Borsini W. Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. Neurological Sciences. 2010;31(3):299-306.
• 3. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009;40(3):788-94.
• 4. Putaala J, Metso AJ, Metso TM, Konkola N, Kraemer Y, Haapaniemi E, et al. Analysis of 1008 consecutive patients aged 15 to 49 with first-ever ischemic stroke: the Helsinki young stroke registry. Stroke. 2009;40(4):1195-203.
• 5. Mehta A, Ginsberg L. Natural history of the cerebrovascular complications of Fabry disease. Acta paediatrica. 2005;94:24-7.
• 6. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. European journal of clinical investigation. 2004;34(3):236-42.
• 7. Shi Q, Chen J, Pongmoragot J, Lanthier S, Saposnik G. Prevalence of Fabry disease in stroke patients—a systematic review and meta-analysis. Journal of Stroke and Cerebrovascular Diseases. 2014;23(5):985-92.
• 8. Desnick R, Ioannou Y, Eng C. Fabry disease: a-galactosidase A deficiency. Metabolic and molecular bases of inherited disease New York: McGraw-Hill. 2001:3733-74.
• 9. Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society. 1996;40(1):8-17.