Turners/Gauchers

Question 1

Turners:

• Clinical presentation? (5)
• Challenges over lifetimes? (4)
• Pitfalls of medical culture? (3)

Answer 1

• webbed neck, shield chest, cubitus valgus, short 4th metacarpal, posterior hairline
• math, late development, infertile, aging, stature
• secret keeping, infertility discussion, preceived negative experiences with physicians

Question 2

Gauchers:

• Thrombocytopenia?
• Etiology: Accumulation of? Where? Why?
• Clinical manifestations? (3)
• Tests for conformation? (3)

Answer 2

• Decreased prod or increased destruction of platelets
• Glycosylceramide; macrophages; defective lysosomal glucocerebrocidase
• Anemia, hepatospplenomegaly, bone issues
• Enzyme assay, sequencing, lymphocyte assay

Question 3

Gauchers:

• 3 types? symptoms?
• 4 therapies available?
• Ethical issue?

Answer 3

1. ) Type 1 = most common; non-neural; fatigue, hepatosplenomegaly
2. ) Type 2 = fatal within 2 years, neuronal symptoms
3. ) Type 3 = same symptoms as 2 but later onset
   - enzyme replacement on mannose, bone marrow transplant, splenoctomy, substrate reduction
   - Cost

Question 4

Gauchers:

• Likelihood of child at risk when both parents have it?
• Diagnosed when levels of enzyme activity below at?
• Type carrier percentage in Ashkenazi Jews?

Answer 4

• 100%
• 30%
• 1/15