Hello and welcome to the Zero Definals podcast. My name is Tom and in this episode

I'm going to be talking to you about polycystic kidney disease in children. You can find written

notes on this topic at zero definals.com or in the renal and urology section of the Zero

Definals Pediatrics book. So let's get straight into it.

There are two types of polycystic kidney disease or PKD. This section focuses on

autosomal recessive polycystic kidney disease or ARPKD. Autosomal dominant polycystic

kidney disease, also known as ADPKD, presents later in life,

usually in adults. Autosomal recessive polycystic kidney disease presents in neonates and is usually

picked up on antinatal ultrasound scans. It's the result of a mutation in the polycystic kidney and hepatic disease 1 gene,

or P-K-HD-1 gene, on chromosome 6.

This gene codes for the fibroscystin polyductin protein complex,

which is responsible for the creation of tubules and the maintenance

of healthy epithelial tissue in the kidneys, liver and pancreas. So what are the features of

autosomal recessive polycystic kidney disease? The underlying pathology causes cystic enlargement of

the renal collecting ducts,

oligohydramnius, which is insufficient amniotic fluid, pulmonary hypoplasia, or underdevelopment

of the fetal lungs, and Potter syndrome.

The underlying gene defect also results in congenital liver fibrosis.

Autosomal recessive polycystic kidney disease usually presents in the antinatal period

with oligohydramneous and polycystic kidneys seen on antinatal scans.

Oligohydramnius is a lack of amniotic fluid which is caused by reduced urine production by

the fetus.

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