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Journals / Medical Network Klinik Bilimler ve Doktor / 2001 / Cilt: 7 - Sayı: 4

An early diagnosed case report of Gaucher disease

Erken dönemde tanı konulan bir Gaucher olgusu

Sinan Mahir KAYIRAN
Namık ÖZBEK
Figen ÖZÇAY
Filiz TİKER
Gönenç CİLİV
Pages
520–521
DOI
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AI Summary & Key Takeaways

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

The case presented here to emphasize that Gaucher disease should be thought in the differential diagnosis the patients who had not typical findings of the disease yet, but presented with unexplained anemia and thrombocytopenia.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Gaucher disease is an autosomal recessive disorder which is characterized by the deficiency of glucocerebrosidase.
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Key Findings & Data:Natural history of the disease and symptoms are generally multisystemic and different physical findings may be observed.
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Conclusion & Impact:The case presented here to emphasize that Gaucher disease should be thought in the differential diagnosis the patients who had not typical findings of the disease yet, but presented with unexplained anemia and thrombocytopenia.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Trombositopeni · Eksiklik hastalıkları · Gaucher hastalığı

Abstract

Gaucher disease is an autosomal recessive disorder which is characterized by the deficiency of glucocerebrosidase. Natural history of the disease and symptoms are generally multisystemic and different physical findings may be observed. The case presented here to emphasize that Gaucher disease should be thought in the differential diagnosis the patients who had not typical findings of the disease yet, but presented with unexplained anemia and thrombocytopenia.

Özet

Gaucher hastalığı, glukoserebrozidaz enzim eksikliği sonucunda ortaya çıkan otozomal resesif geçişli bir hastalıktır. Klinik özellikler genellikle multisistemik olup semptomların şiddeti, hastalığın seyri ve fizik inceleme bulgularında farklılıklar gözlenebilmektir. Sunulan vakamız açıklanamayan anemi ve trombositopeni nedeniyle izlenen ve henüz tipik klinik bulguları gözlenmeyen olgularda Gaucher hastalığının ayrıcı tanıda düşünülmesi gerektiğini vurgulamaktadır.

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Cite This Article

KAYIRAN, S. M., ÖZBEK, N., ÖZÇAY, F., TİKER, F., CİLİV, G. (2001). An early diagnosed case report of Gaucher disease. Medical Network Klinik Bilimler ve Doktor, Cilt: 7 - Sayı: 4, 520–521. https://ajindex.com/articles/278834

References (6)

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