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Gaucher's disease

Gaucher's disease is the most common of the lysosomal storage disorders. It is carried on chromosome 1 and is inherited in an autosomal recessive pattern. 

Ashkenazi Jews are most affected. 

Features of Gaucher’s disease include: 
  • Splenomegaly 
  • Hepatomegaly 
  • Hepatic fibrosis 
  • Pathological fractures 
  • Pancytopenia 
  • Seizures 

Treatment 
  • Enzyme replacement therapy 
  • splenectomy 

References:
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Abdelghafour

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Secret collector of interesting anonymised ECGs. Fan of the Bath Photomarathon. Lover of cream teas. [Sarah Hudson] (Your Picture)