Gaucher Disease 

Pathophsiology
 • Lysosomal storage ...
869
Description

Gaucher Disease 



Pathophsiology

 • Lysosomal storage disorder

 • Deficiency of ß-glucocerebrosidase

• Accumulation of glucosylceramide in macrophages

Diagnosis

 • Decr ß-glucocerebrosidase activity

 • Mutation in GBA1 gene

Clinical Manifestations

 • Neurological involvement (type 2 and 3)

 • Splenomegaly > 90%

 • Hepatomegaly 60-80%

 • Osteonecrosis, bone infarcts, osteoporosis 80%



By Dr. Yann Nguyen @YannNgyn



#Gauchers #Disease #Diagnosis #Signs #Symptoms 
Contributed by

Dr. Gerald Diaz
@GeraldMD
Board Certified Internal Medicine Hospitalist, GrepMed Editor in Chief 🇵🇭 🇺🇸 - Sign up for an account to like, bookmark and upload images to contribute to our community platform. Follow us on IG:  https://www.instagram.com/grepmed/ | Twitter: https://twitter.com/grepmeded/
Medical jobs
view all

0 Comments

Related content