Safra taşı ve Gaucher hastalığı birlikteliği: Bir olgu sunumu

Yıl 2014, Cilt: 13 Sayı: 2, 63 - 65, 01.08.2014

Önder Ekmen Nazım Ekin Serdar Değirmenci - Muhsin Kaya -

Öz

Gaucher hastalığı lizozomal bir enzim olan glukoserebrosidaz eksikliğine bağlı gelişen konjenital sfingolipit metabolizması bozukluğudur. Nöropatiyle beraber olmayan Gaucher hastalığı (Tip-I) kendini hepatosplenomegali, anemi, trombositopeni ve kemik tutulumuyla gösterir. Tip-I Gaucher hastalığında farklı oranlarda safra taşı varlığı bildirilmiştir. Burada anemi, hepatosplenomegali, safra kesesi taşı, koledok taşı ve akut biliyer pankreatit tanısı konulan hasta sunulmuştur.

Anahtar Kelimeler

Gaucher hastalığı, safra taşı, pankreatit

Gallstone associated with Gaucher disease: A case report

Öz

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.

Anahtar Kelimeler

Gaucher disease, gallstone, pancreatitis

Kaynakça

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