1. Presentation On gaucher’s disease

2. Gaucher's disease :
Gaucher's disease is a rare genetic diseases involving a deficiency of an enzyme glucocerebrosidase which normally break down certain body glycolipids.

3. Types : There are 3 types of gaucher’s diseases. Type 1. Type 2.

4. Genetic causes :
Mutation of the GBA gene leads to deficiency of an enzyme, glucocerebrosidase,which is needed to break down a lipid called glucocerebroside. This fatty substance then accumulates in "Gaucher cells" which are found particularly in the liver, spleen, and bone marrow. Damage in these organs that cause disease. Both parents must be carriers in order for a child to be affected. If both parents are carriers, 25%, chance with each pregnancy for an affected child.

5. symptoms of Gaucher’s diseases :
Acute bone infarctions & Bone pain.
Anemia &Low blood platelets.
Loss of appetite.
Fatigue
Yellow fatty deposits on the white of the eye.
Enlarged spleen and liver.
Liver malfunction.
Skeletal disorders.
Swelling of adjacent joints.
Distended abdomen.
Growth retardation in children.

6. diagnoses :
Enzyme testing
DNA testing

7. Type 1 Gaucher’s disease :
Type I the most common, also called the "non-neuropathic .It does not affect the nervous system.It affects the spleen, liver, and bone marrow .The symptoms enlargement of the spleen (the first sign),increased skin pigmentation.

8. Type 2 Gaucher’s disease :
Type 2 Gaucher’s disease is a very rare, progessive form of Gaucher’s disease which affects the brain (central nervous system) as well as the spleen, liver, lungs and bones. Type II is characterized by neurological problems in small children.

9. Type-3 Gaucher’s disease :
In type 3 Gaucher’s disease there neurological involvement but it is not as severe as that seen in type 2.

10. Treatment : Enzyme replacement treatment decrease
liver and spleen size, reduce skeletal
abnormalities & reverse other.
Successful bone marrow transplantation.
Surgery to remove the spleen.
Joint replacement surgery to improve mobility
& quality of life.
Other treatment options include antibiotics
for infections.
There is currently no effective treatment for the severe brain damage that may occur in types 2 Gaucher’s disease. Gene therapy may be a future step.

11. …..Thank you all…..