ADPKD Flashcards
1
Q
What is ADPKD?
A
The most common inherited cause of kidney disease
2
Q
What are the 2 types of ADPKD?
A
ADPKD Type 1 - More common, chromosome 16 and presents with renal failure earlier
ADPKD Type 2 - Less common, chromosome 4
3
Q
How are relatives screened for ADPKD?
A
Renal ultrasound
4
Q
What is the diagnostic criteria for ADPKD
A
- Positive family history
- 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
5
Q
How can ADPKD present?
A
- HTN
- Recurrent UTI
- Flank pain
- Haematuria
- Palpable kidneys
- Renal impairment
6
Q
What are some extra-renal manifestations of ADPKD?
A
- Liver cysts: most common
- Berry aneurysms: SAH
- Mitral valve prolapse, aortic dilation, aortic dissection
7
Q
How is ADPKD managed?
A
- Tolvaptan can be used in patients with rapidly progressing disease or those with CKD stage 2/3 at the start of treatment
8
Q
How is Autosomal Recessive Polycystic Kidney Disease often picked up?
A
- antenatal scans with oligohydramnios (reduced amniotic fluid volume due to reduced urine output).
- Oligohydramnios leads to underdevelopment of the fetal lungs (pulmonary hypoplasia) and respiratory failure shortly after birth.
- Patients may require haemodialysis within the first few days of life
- dysmorphic features, such as underdeveloped ear cartilage, low-set ears and a flat nasal bridge. End-stage renal failure usually occurs before reaching adulthood.
