Ramachandran SUDARSHAN, G Sree VİJAYABALA

Fabry Hastalığı

Fabry hastalığı α-galactosidaz enzimindeki bir eksiklikten kaynaklanan X’e bağlı bir lizozomal depo hastalığıdır. Bu enzim eksikliği damar sistemi ve iç organlarda lipid birikiminde yol açarak hastayı çoğul komplikasyonlar ve yaşamı tehdit edici bir duruma sürükler. Hastalık ağrı, nörolojik, gastrointestinal, romatolojik ve ağızla ilgili belirtilerle karakterizedir. Bu yazıda Fabry hastalığının patofizyolojisi, klinik özellikleri, ayırıcı tanısı ve yönetimi gözden geçirilmiştir. Bunların yanısıra hastalığı tedavisindeki son gelişmelere de vurgu yapılmıştır.

Anahtar Kelimeler:

Fabry hastalığı, lizozomal depo hastalığı, enzim değiştirme terapisi

Fabry Disease

Fabry's disease is a X linked Lysosomal storage disorder caused by a defect in α-galactosidase enzyme. This defect causes accumulation of lipids progressively in the vasculature and internal organs resulting in multiple complications and life threatening situation. It is characterized by pain, neurological, gastrointestinal, renal, cardiovascular, dermatological, rheumatological and oral manifestations. This review renders the pathophysiology, clinical features, diagnostic criteria's, differential diagnosis and management. This review also portrays the recent advancements that have been proposed for the management for this disorder.

Keywords:

Fabry disease, lysosomal storage, enzyme replacement therapy,

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