4.8 • 678 Ratings
🗓️ 8 June 2020
⏱️ 4 minutes
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0:00.0 | Hello and welcome to the Zero to Finals podcast. My name is Tom and in this episode I'm going to be |
0:08.3 | talking to you about Primary Ciliary Dysia. And if you want to follow along with written notes on this topic, |
0:14.3 | you can follow along at zero to finals.com slash primary ciliary dyskinesia or in the respiratory |
0:20.7 | section of the Zero to Fininals pediatrics book. |
0:24.0 | So let's get straight into it. |
0:26.2 | Primary ciliary dyskinesia or PCD is also known as Cartaginus syndrome. |
0:32.8 | It's an autosomal recessive condition that affects the cilia of various cells in the body is more common |
0:39.6 | in populations where there's consanguinity, meaning the parents are related to each other. |
0:45.4 | Consangrenuity increases the risk of a child having two copies of the same recessive genetic mutation. |
0:52.5 | Primary ciliary dyskinesia causes dysfunction in the motile cilia around the body, |
0:58.0 | most notably in the respiratory tract. |
1:00.6 | This leads to a build-up of mucus in the lungs, |
1:03.7 | providing a great site for infection that's not easily cleared. |
1:07.9 | This leads to a similar respiratory presentation to cystic fibrosis with frequent |
1:12.6 | and chronic chest infections, poor growth and bronchiectasis. It also affects |
1:18.8 | Sicilia in the fallopian tubes in women and the tails of the sperm in men, which are called |
1:24.9 | the flagella of the sperm, and this leads to reduced or absent fertility. |
1:30.8 | There's a strong link between primary ciliary dyskinesia and cytus inversus, which we'll talk about |
1:36.9 | in more detail shortly. |
1:39.3 | We need to talk about Cartagina's Triad. |
1:43.3 | Cartaginus Triad describes the three key features of primary ciliary dyskinesia, |
1:49.3 | although not all patients with primary ciliary dyskinesia will have all three features. |
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