Agustos 2014
Safra tasi ve Gaucher hastaligi birlikteligi: Bir olgu sunumu
Gallstone associated with Gaucher disease: A case report
- Ana Sayfa
- Sayılar
- Agustos 2014
- Safra tasi ve Gaucher hastaligi birlikteligi: Bir olgu sunumu...
Özet
Gaucher hastaligi lizozomal bir enzim olan glukoserebrosidaz eksikli-gine bagli gelisen konjenital sfingolipit metabolizmasi bozuklugudur. Nöropatiyle beraber olmayan Gaucher hastaligi (Tip-I) kendini hepatosplenomegali, anemi, trombositopeni ve kemik tutulumuyla gösterir. Tip-I Gaucher hastaliginda farkli oranlarda safra tasi varligi bildirilmistir. Burada anemi, hepatosplenomegali, safra kesesi tasi, koledok tasi ve akut biliyer pankreatit tanisi konulan hasta sunulmustur.
Abstract
Gaucher disease is an inherited disorder of sphingolipid metabolism caused by deficiency in the lysosomal enzyme glucocerebrosidase. Type 1 Gaucher disease is characterized by hepatosplenomegaly, anemia, thrombocytopenia, and bone involvement. Cholelithiasis has been observed among patients with type 1 Gaucher disease with variable frequency. We present a patient with anemia, hepatosplenomegaly, cholelithiasis, choledocholithiasis, and acute biliary pancreatitis.
