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Cause And Symptoms

Complications

Diagnosis And Treatment

Overview

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References

gaucher

Gaucher

The Role of Pediatrician in Gaucher Disease

Gaucher Disease is the most common lysosomal storage disorder. It is usually underdiagnosed due to its wide clinical spectrum. Physicians should have high index of suspicious for GD diagnosis in any patient with splenomegaly/Hepatology with thrombocytopenia. Early enzyme replacement therapy is a cornerstone to prevent and reverse disease complications.

GAUCHER

RARE-DISEASE

Diagnostic Algorithm for Gaucher Disease in Pediatric

Diagnostic Algorithm for Gaucher Disease in Adult

Introduction to Gaucher Disease by Prof. Moeenaldeen D. Alsayed

In this event, which was held on Friday 21st Jan 2022, Prof. Moeen takes us through a journey to introduce Gaucher disease since its discovery in late 19th Century travelling through the overall view of the disease manifestations and the possible disease diagnostic algorithms that might help the physicians in spotting this rare disease with a focus in pediatric patients.

Do not Keep it masked! Prof. Fatih Ezgü

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver. This can cause many different symptoms. In This lecture, which was held on Friday 21st Jan 2022, Prof. Fatih will take us into some clinical cases of Gaucher disease in children where we will have some real-life experience.