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Journals / Akademik Gastroenteroloji Dergisi / 2014 / Cilt: 13 - Sayı: 2

Gallstone associated with Gaucher disease: A case report

Safra taşı ve Gaucher hastalığı birlikteliği: Bir olgu sunumu

Önder EKMEN
NAZIM EKİN
Serdar DEĞİRMENCİ
Muhsin KAYA
Pages
63–65
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We present a patient with anemia, hepatosplenomegaly, cholelithiasis, choledocholithiasis, and acute biliary pancreatitis.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Gaucher disease is an inherited disorder of sphingolipid metabolism caused by deficiency in the lysosomal enzyme glucocerebrosidase.
📊
Key Findings & Data:Type 1 Gaucher disease is characterized by hepatosplenomegaly, anemia, thrombocytopenia, and bone involvement.
💡
Conclusion & Impact:We present a patient with anemia, hepatosplenomegaly, cholelithiasis, choledocholithiasis, and acute biliary pancreatitis.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Gaucher hastalığı · safra taşı · pankreatit

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.

Özet

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.

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Cite This Article

EKMEN, Ö., EKİN, N., DEĞİRMENCİ, S., KAYA, M. (2014). Gallstone associated with Gaucher disease: A case report. Akademik Gastroenteroloji Dergisi, Cilt: 13 - Sayı: 2, 63–65. https://ajindex.com/articles/151963

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