Bir olgu nedeniyle gaucher hastalığının gözden geçirilmesi

Gaucher hastalığı, retiküloendotelyal sistem hücreleri içinde glukozilseramid birikiminin neden olduğu, lizozomal gluko-serobrosidaz enzim eksikliğine bağlı otosomal resesif geçişli bir depo hastalığıdır. Enzim ve gen tedavilerindeki ilerlemeler ile küratif tedavisi gündeme gelen, ender bir genetik bozukluk olan Gaucher hastalığı, kliniğimizde saptanan bu olgu ile birlikte yeniden gözden geçirilmiştir.

Gaucher dısease: A case report

Gaucher disease is an autosomal ressesive, lysosomal storage disease, characterized by glycosylcerebroside deposition in reticulo-endothelial cells, due to deficiency of lysosomal glucocerebrosidase. Enzyme and gene therapy are new curative therapies for gaucher disease and due to it’s rarity, we present a case report and reviewed the diasease.

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Marmara Medical Journal-Cover
  • ISSN: 1019-1941
  • Yayın Aralığı: Yılda 3 Sayı
  • Başlangıç: 1988
  • Yayıncı: Marmara Üniversitesi