GAUCHER'S DISEASE, LSD, FH Flashcards
It is the buildup fatty substances particularly in the spleen and liver and this buildup may cause organs to enlarge.
GAUCHER’S DISEASE
Non neuronopathic Gaucher disease = ______
_____________________________________= Type 2
Chronic neuronopathic Gaucher disease = _____
Type 1
Acute neuronopathic Gaucher disease
Type 3
What are the S&S of Gaucher’s disease?
- Abdominal complaints
- Skeletal abnormalities
- Blood disorders
- Neurological symptoms
What are the treatment for Gaucher’s disease?
- Enzyme replacement therapy (ERT)
- Substrate reduction therapy (SRT)
Which among the types of Gaucher’s disease is treatable?
Type 1
What specific ancestry is at higher risk of developing Gaucher’s disease?
Ashkenazi
What is the primary cause of Gaucher disease?
GENETIC MUTATION
Which ethnic group is at a higher risk of developing Gaucher disease?
EASTERN AND CENTRAL EUROPEAN JEWISH
Which type of Gaucher disease is typically fatal in infancy?
TYPE 2
Which organ enlargement is commonly associated with Gaucher disease?
SPLEEN/LIVER
What treatment options are available for Gaucher disease type 1?
ENZYME REPLACEMENT THERAPY (ERT)
This is a disease that has more than 70 rare diseases
Lysosomal Storage Disease
People with these disorders are missing important enzymes. Without those enzymes, the lysosome isn’t able to break down these substances
Lysosomal Storage Disease
It is caused by mutations in genes that
encode lysosomal enzymes or proteins involved in lysosomal function
LSD
Mutations in the following:
lsd GM1-gangliosidosis
GLB1 gene
Mutations in the following:
mucopolysaccharidoses
HGSNAT, HYAL1, IDS, IDUA, NAGLU
What are the signs and symptoms of LSD?
- Enlarged organs
- Neurological symptoms
- Cardiovascular symptoms
- Skeletal abnormalities
- Respiratory complications