Urology - ARPCKD Flashcards
What type of PCKD affects kids primarily?
Autosomal recessive PCKD
Autosomal dominant presents later in adults
When does ARPCKD present?
Neonates and is usually picked up on antenatal USS
What causes ARPCKD?
Mutation in polycystic kidney and hepatic disease 1 gene on chromosome 6
Gene codes for fibrocystin which is responsible for creation of tubules and maintaining healthy epithelial tissue in kidneys, liver and pancreas
What does underlying pathology in ARPCKD cause?
- Cystic enlargement of renal collecting ducts
- Oligohydramnios, pulmonary hypoplasia and Potter syndrome
- Congenital liver fibrosis
How does ARPCKD present in the antenatal period?
Oligohydramnios and polycystic kidneys on antenatal scans
Oligohydramnios is lack of amniotic fluid due to reduced urine production by foetus
Lack of amniotic fluid leads to Potter syndrome and pulmonary hypoplasia causing respiratory failure after birth
What are the features of Potter syndrome?
Dysmorphic features e.g.
- Underdeveloped ear cartilage
- Low seat ears
- Flat nasal bridge
- Skeletal abnormalities
Why is it difficult to breathe in ARPCKD?
Large cystic kidneys take up large amounts of space, harder for neonate to breathe
Pulmonary hypoplasia causing respiratory failure
How is ARPCKD treated?
May need renal dialysis
Most develop end-stage renal failure before adulthood
What issues will patients with ARPCKD face throughout life?
- Liver failure to due to fibrosis
- Portal hypertension - oesophageal varices
- Progressive renal failire
- Hypertension
- Chronic lung disease
Prognosis is poor
1/3 die in neonatal period
1/3 survive to adulthood
What is multicystic dysplastic kidney?
Separate to PCKD
One of the kidneys is made up of many cysts, other kidney is normal
In rare cases it can be bilateral, which leads to death in infancy
MCDK is normally diagnosed on antenatal ultrasound scans.
What is the prognosis in MCDK?
Usually 1 kidney sufficient for normal life
Other cystic kidney will atrophy and disappear before 5 years old
Increased risk of
- UTIs
- Hypertension
- CKD
No treatment needed
Follow-up to monitor the abnormal kidney
Prophylactic antibiotics used occasionally to prevent urinary infections
