PREP 2015 Review

Question 1

What disease/ disorder is most likely in a family where all the males are affected by renal disease (hematuria progressing to renal failure), bilateral sensorineural hearing loss (lost of high frequencies first then lower) and lenticonus?

Answer 1

Alport Syndrome
(usually X-linked dominant but can be AR/AD)

Question 2

What is the most common gene mutation associated with Alport Syndrome?

Answer 2

COL4A5 on X22

COL4A5 and COL4A6 cause X-linked dominant form

Question 3

When should transplant patients receive vaccinations?

Answer 3

1. should receive inactivated vaccines 2 weeks prior or 6 months after transplant
2. should receive live attenuated vaccines 1 month before or at least 1 year after