Primary ciliary dyskinesia Flashcards
1
Q
PCD/Kartagener syndrome
A
• Rare genetic disroder • Defect causing immotile cilia due to dynein arm defect - respiratory tract - Fallopian tube - Flagella of sperm cells - Ear and Eustachian tube
2
Q
PCD genes
A
• Autosomal recessive mutation of
- DNAI1
- DNAH5
3
Q
Clinically manifests as
A
• Resp - recurrent sinusitis - bronchiectasis • Gonads - infertility - increased risk of ectopic pregancy • Ear - earling loss
