Inherited kidney disease Flashcards
1
Q
What genes are identified in ADPKD? what age is someone expected to reach ESRF with each one
A
PKD 1 - chromosome 16 (85% of cases) reach ESRF by 50s
PKD 2 - chromosome 4, reach ESRF by 70s
2
Q
How can ADPKD present? what are the extra renal features
A
- Asymptomatic
- Sx may start w increase in cyst size or haemorrhage
- Cyst infection
- Renal calculi
- Raised BP
- Renal failure
- Extrarenal: liver cysts, SAH (aneurysm), MV prolapse, ovarian cysts, diverticular
3
Q
What are the Ix for ADPKD and how is it diagnosed?
A
USS: 15-39yrs (≥3 cysts in each kidney), 40-59yrs (>2 cysts in each kidney)
MRI head: screen for intracranial aneurysm in <65yrs w FHx of aneurysm/SAH
4
Q
What is the treatment of ADPKD
A
- water intake of 3-4L/day if eGFR >30
- Control BP: ACEi/ARB, thiazide diuretics, BBs
- Plan for RRT (transplant)
5
Q
What chromosome is affected in ARPKD
A
6
6
Q
How does ARPKD present?
A
Antenatally or perinatally w cysts
Congenital hepatic fibrosis
7
Q
What is the treatment for ARPKD?
A
No specific therapy
