Inherited Renal disease Flashcards
1
Q
What chromosome is ADPKD inherited on?
A
- PKD1 - Chromosome 17
- PKD2 - chormosome 4
2
Q
How do those with ADPKD present?
A
May be clinically silent unless cysts become symptomatic:
- Loin pain
- Visible haematuria
- Renal calculi
- Hypertension
- Liver cysts
- SAH
- Mitral valve prolapse
- Ovarian cyst
- Diverticular disease
3
Q
What is the modality of choice for diagnosing ADPKD?
A
Renal USS
4
Q
What other tests would you consider doing in suspected ADPKD besides renal USS?
A
- MRI head - SAH?
5
Q
How would you manage someone with ADPKD?
A
- Water intake - 3-4L/day may suppress growth
- BP control - ACEi - first line, Thiazide - 2nd line
- Cyst decompression
- Plan RRT
