Genetic conditions

Question 1

What is Fabry Disease?

Answer 1

• A disorder of lysosomal storage and deficiency of alpha galactosidase. It is caused by a mutation in the GLA gene which is found on the X Chromosone
• X linked recessive - females who have the gene tend to be asymptomatic (but can be variable)
• Two forms - classic and non classic. The classic type starts in childhood with pain and decreased sweating. Non classic presents later with organ involvement alone.
• Features include acute pain episodes in the peripheries, angiokeratomas, hypophidrosis (decreased sweating) and corneal opacity.
• Organ involvement is common and results in MI, Stroke and Kidney disease
• Can also lead to arrythmias, LVH and HOCM.

Question 2

How do you test for Fabry disease?

Answer 2

Males - blood test for galactosidase. If low then gene analysis
Female - gene analysis. (This is because affected females can have normal levels of GAL A

Question 3

What is the treatment for Fabry Disease?

Answer 3

1. Enzyme replacement

Question 4

What is homocystinuria?

Answer 4

A rare autosomal recessive disease caused by a deficiency of cystathione beta synthase.This causes elevated plasma and urine homicysteine. Patients haveL fine, fair hair, arachnodactyly (long hands and feet), learnign difficulties and seizures

Question 5

What is the treatment for homocystinuria?

Answer 5

Vitamin B6 (Pyroxidine) supplements

Question 6

What is turners syndrome?

Answer 6

Chromosomal disorder where there is a deletion of one X chromosone resulting in X0. Females are short statures with a shield chest and webbed neck.

Question 7

What cardiac conditions are associated with turners syndrome?

Answer 7

Biscuspid aortic valve (15%) and coarctation on the aorta (5 - 10%)

Question 8

What renal condition is seen in turners syndrome?

Answer 8

Horseshoe kidney

Question 9

How is alports syndrome inherited?

Answer 9

X linked dominant