Gaucher Hastalığı-Nöronopatik Tip 3-Olgu Sunumu

Gaucher hastalığı, retiküloendotelyal sistem RES hücreleri içinde glukozilseramid birikiminin neden olduğu, lizozomal glukoserobrosidaz enzim eksikliğine bağlı otosomal resesif geçişli bir depo hastalığıdır. Monosit ve makrofaj lizozomlarında biriken glukoserebrosid birçok organı, sıklıkla da kemik iliği, lenf bezleri, karaciğer ve dalağı infiltre eder ve multisistemik bulgulara yol açar. Gaucher hastalığının nörolojik tutulum olup olmaması ve nörolojik hastalığa ilerleme durumuna göre 3 alt tipi bulunmaktadır. Tip 1 erişkin formu olup, nörolojik tutulum görülmez. Tip 2 infantil veya akut nöronopatik tip, Tip 3 juvenil subakut nöronopatik tipidir. 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 Diseaseneuropathic Type 3-Case Presentation

Gaucher disease is an autosomal ressesive, lysosomal storage disease, characterized by glycosylcerebroside deposition in reticulo-endothelial cells, due to deficiency of lysosomal glucocerebrosidase. Glucocerebroside accumulated in lysosomes of monocytes and macrophages ,frequently infiltrates many organs such as the bone marrow, lymph nodes, liver and spleen and causes multisystemic symptoms. In Gaucher disease, according to neurological involvement and the progress of neurological disease there are 3 sub-types. Type 1 adult form where there is no neurological involvement, Type 2 , infantile or acute neuropathic and Type 3, subacute juvenile neuropathic type. 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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Acıbadem Üniversitesi Sağlık Bilimleri Dergisi-Cover
  • ISSN: 1309-470X
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 2010
  • Yayıncı: ACIBADEM MEHMET ALİ AYDINLAR ÜNİVERSİTESİ