Hi, this is Tom, and in this episode I'm going to be going through primary ciliary dyskinesia,

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 at members.0 tofinals.com.

And at the end of the episode, we'll go through some questions

so you can test yourself on what you just heard.

So let's jump straight in.

Primary ciliary dyskinesia is an autosomal recessive condition

affecting the cilia on the surface of cells.

It's more common with consanguinity where the parents are related, for example, cousins,

as this increases the risk of a child having two copies of the same genetic mutation.

Primary ciliary dyskinesia causes dysfunction of the same genetic mutation. Primary ciliary dyskinesia causes dysfunction of the motile

cilia around the body, most notably in the respiratory tract. It leads to a mucus buildup in the lungs,

creating a favourable environment for infection.

It has a similar presentation to cystic fibrosis with frequent and chronic chest infections,

impaired growth and bronchiectasis.

It also affects the cilia of the fallopian tubes in females and the sperm tails or flagella in males,

leading to reduced or absent fertility. There is a higher risk of ectopic pregnancy in affected females as the impaired cilia in the fallopian tubes do not waft the fertilized egg all the way down to the uterus.

Let's talk about Cartagina's Triad.

Cartaginus Triad involves three features associated with primary ciliary dyskinesia.

Not all patients will have all three features. The features are paranasal sinusitis, bronchiectesis and cytosus. Let's talk in more detail about

situs inversus. Citus Inversus.

Citus inversus is a condition where the organs in the chest and the abdomen are reversed.

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