ADPKD = Autosomal Dominant Polycystic Kidney Disease Flashcards
1
Q
ADPKD is the most common inherited cause of kidney disease. It affects 1 in X caucasions?
A
1 in 1,000
2
Q
What are the two genetic loci that have been identified to cause the disease?
A
PKD1 & PKD2
(These code for polycystin-1 and polycystin-2)
3
Q
Which is more common? (ADPKD type 1 or ADPKD type 2)
A
ADPKD Type 1
4
Q
Tell me about ADPKD Type 1.
A
- 85% of cases
- Chromosome 16
- Presents with renal failure earlier
5
Q
What is the screening?
A
Abdominal USS
6
Q
What are the USS diagnostic criteria in patients with a positive family history?
A
- Two cysts, unilateral or bilateral, if aged < 30 years
- Two cysts in both kidneys if aged 30-59 years
- Four cysts in both kidneys if aged > 60 years
