PCD Flashcards
1
Q
PCD frequency
Rate among children with repeated resp tract infection
A
1 in 12,000
5%
2
Q
PCD
Clinical features
A
Chronic sinopulmonary infection
Persistent middle ear effusions
Laterality defects
Infertility
3
Q
Motile cilia
A
Ciliated, pseudostratified columnar epithelium
200 cilia per cell
Motility affected by dehydration & anaesthetic
4
Q
PCD genetics
Clinical manifestations
A
AR
Multiple genes
Neonatal resp distress Persistent rhinosinusitis Nasal polyposis Intractable otorrhoea Recurrent pneumonia Bronchiectasis Situs inversus (50%; but only 25% of SI have PCD) Dysmotile sperm
5
Q
Diagnosis
A
Curretage from nasal epithelium
Endobronchial brushings
Electromicroscopy short or absent dynein arms
Reduced nasal nitric oxide
Disease causing mutations found in 60%
