Safra taşı ve Gaucher hastalığı birlikteliği: Bir olgu sunumu

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

1. Cox TM, Schofield JP. Gaucher’s disease: Clinical features and natu- ral history. Bailliere’s Clin Haematol 1997; 10:657-89.
2. Weinreb NJ, Andersson HC, Banikazemi M, et al. Prevalance of Type I Gaucher disease in the United States. Arch Intern Med 2008; 168:326-7.
3. James SP, Stromeyer FW, Chang C, Barranger JA. Liver abnormali- ties in patients with Gaucher’s disease. Gastroenterology 1981; 80:126-33.
4. Pe´rez-Calvo J, Bernal M, Giraldo P, et al. Co-morbidity in Gaucher’s disease-Results of a nationwide enquiry in Spain. Eur J Med 2000; 5:231-5.
5. Chapman BA, Frampton CM, Wilson IR, et al. Gallstone prevalence in Christchurch: Risk factors and clinical significance. N Z Med J 2000; 113:46-8.
6. Everhart JE, Khare M, Hill M, Maurer KR. Prevalence and ethnic dif- ferences in gallbladder disease in the United States. Gastroenterol- ogy 1999; 117:632-9.
7. Jorgensen T, Rossen K, and Thorvaldsen P. Are autopsy studies reliable in assessing gallstone prevalence in the community? Int J Epidemiol 1994; 23:566-9.
8. Völzke H, Baumeister SE, Alte D, et al. Independent risk factors for gallstone formation in a region with high cholelithiasis prevalence. Digestion 2005; 71:97-105.

9. Conte D, Fraquelli M, Fornari F, et al. Close relation between cir- rhosis and gallstones: Cross-sectional and longitudinal survey. Arch Intern Med 1999; 159:49-52.
10. Tsuboi K, Lida S, Kato M, et al. Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type I gau- cher disease: A report of sibling cases. Int J Hematol 2001; 73:356- 62.