Polycystic Kidney Disease Flashcards
1
Q
describe
A
genetic condition w/ multiple fluid filled cysts in kidneys
2
Q
classification
A
- autosomal dominant type
- PKD1 on chromosome 16
- PKD2 on chromosome 4
- autosomal recessive type
- gene on chromosome 6
- rarer and more severe
3
Q
diagnosis?
A
kidney US + genetic testing
4
Q
extra-renal manifestations?
A
- cerebral aneurysm
- mitral regurgitation
- aortic root dilatation
- cysts on other organs: liver, pancreas, spleen, ovaries
- colonic diverticula
5
Q
complications?
A
- Renal
- chronic loin pain
- renal stones
- haematuria
- end stage renal failure
- Heart
- HT
- CVD
6
Q
how does autosomal recessive present?
A
often in pregnancy w oligohydramnios - child will go into respiratory failure soon after birth and often have ESRF before reaching adulthood
7
Q
Mx?
A
Tolvaptan
- slows development of cysts & progression of renal failure
+ Supportive mx
- analgesia
- antihypertensives
- antibiotics for infected cysts
- dialysis & transplant for ESRF
8
Q
what other general management steps are important to consider?
A
- genetic counselling
- avoidance of contact sports for potential cyst rupture
- avoid anti-inflammatory medications
- regular blood pressure monitoring
- regular renal function monitoring
- regular US to monitor cysts
