Hi, this is Tom, and in this episode I'm going to be going through autosomal recessive polycystic kidney disease.

And you can find notes at zero to finals.com and in the zero to finals pediatrics book.

And you can find flashcards and questions to train your knowledge and help you remember

the information for longer at members.0 tofinals.com. And at the end of this episode, we'll go through

some questions so you can test yourself on what you just heard. So let's jump straight in.

There are two types of polycystic kidney disease.

Autosomal recessive polycystic kidney disease, which presents in childhood,

and autosomal dominant polycystic kidney disease, which presents in adulthood,

typically aged 30 to 50 years.

Let's go through the genetics.

Autosomal recessive polycystic kidney disease is caused by a mutation of the polycystic

kidney and hepatic disease 1, or PKHD1 gene, on chromosome 6. This gene codes for fibrosystin,

which is a receptor-like protein that's thought to play an important role in the development

and the functioning of the renal tubules and the bile ducts.

Next let's talk about the features.

Autosomal recessive polycystic kidney disease is often picked up on antinatal scans during pregnancy

with oligohydramnius, which is reduced amniotic fluid volume caused by a low urine output from

the fetus.

Potter syndrome can result from oligohydramnius.

It's important to note that autosomal recessive polycystic kidney disease is not the only cause of oligohydramnius and Potter syndrome.

Potter syndrome involves dysmorphic features, including underdeveloped ear cartilage, low set ears, a flat nasal bridge, and abnormalities of the skeleton.

Oligohydramnius can lead to underdeveloped fetal lungs, which is called pulmonary hypoplasia,

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