Polycystic Kidney DIsease Flashcards
What are the 2 types of Polycystic Kidney Disease?
- Autosomal recessive polycystic kidney disease (ARPKD).
* Autosomal dominant polycystic kidney disease (ADPKD)
Which form of polycystic kidney disease is more common in neonates?
Autosomal recessive polycystic kidney disease (ARPKD)
How is Autosomal recessive polycystic kidney disease (ARPKD) usually discovered?
Antenatal ultrasound scans
What is Autosomal recessive polycystic kidney disease (ARPKD) due to?
A mutation in the polycystic kidney and hepatic disease 1 (PKHD1) gene on chromosome 6.
What does the polycystic kidney and hepatic disease 1 (PKHD1) gene code for?
Normal renal tubule development
What are the main features of Autosomal recessive polycystic kidney disease?
- Cystic enlargement of the renal collecting ducts
- Oligohydramnios, pulmonary hypoplasia and Potter syndrome
- Congenital liver fibrosis
How does Autosomal recessive polycystic kidney disease (ARPKD) present on antenatal scans?
With oligohydramnios and polycystic kidneys
What is oligohydramnios?
A lack of amniotic fluid caused by reduced urine production by the fetus.
What does a lack of amniotic fluid cause?
Potter syndrome
What is Potters syndrome?
- Underdeveloped ear cartilage
- Low set ears
- A flat nasal bridge
- Abnormalities of the skeleton.
What can oligohydramnios also lead to?
Underdeveloped lungs
What is the problem with large cystic kidneys?
They can take up so much space in the abdomen it becomes hard for the neonate to breath adequately.
What problems can someone with polycystic kidneys have throughout their life?
- Liver failure due to liver fibrosis
- Portal hypertension leading to oesophageal varices
- Progressive renal failure
- Hypertension due to renal failure
- Chronic lung disease
What do most people with polycystic kidney’s develop before reaching adult hood?
End stage renal failure
What might neonates require in the first few days of life?
Renal dialysis
