Primary Ciliary Dyskinesia
Respiratory Dx
Pathophysiology:
Primary ciliary dyskinesia
Clubbing
Respiratory distress in infant
Rhinosinusitis (poor feeding > FTT)
Nasal polyposis
Persistent middle ear infections (conductive hearing loss, TTubes)
Chronic cough
Pneumonia (5% of recurrent pneumonia)
Bronchiectasis
Wheeze
Dextrocardia / heterotaxy
Infertility (flagella of sperm doesn't wag, in women related to cilia in tubes)
Kartagener syndrome triad: situs inversus totalis, chronic sinusitis, and bronchiectasis
Dx
curettage of nasal epithelium or bronchial brushings
Pathophysiology:
- Nasopharynx, middle ear, paranasal sinuses, large airways are ciliated (pseudostratified columnar epithelium)
- Motile cilia
- each mature cell has 200 cilia
- movement oriented and synchronised within and between cells
- microtubular doublets (9+2) one pair centrally rest in circle around
- dyneins (variable ATPases) attached to the microtubular pair promote sliding of microtubule
- inner arm defines shape of cilia, outer define force/frequency
- normal = 8-20 beats / sec
- Anaesthetics, dehydration... affect cilia
- Sensory aka primary cilia lack central pair (9+0) so no movement
- involved in retinitis pigmentosa, polycystic kidney disease, polycystic liver disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Joubert syndrome, Alström syndrome, and Jeune syndrome, hydrocephalus
- Nodal cilia only present in embryo and involved in situs (e.g. dextrocardia if fail)
Primary ciliary dyskinesia
- usually AR but rarely AD/XL
- can be agenisis of cilia, immotile, or dyskinetic
Clubbing
Respiratory distress in infant
Rhinosinusitis (poor feeding > FTT)
Nasal polyposis
Persistent middle ear infections (conductive hearing loss, TTubes)
Chronic cough
Pneumonia (5% of recurrent pneumonia)
Bronchiectasis
Wheeze
Dextrocardia / heterotaxy
Infertility (flagella of sperm doesn't wag, in women related to cilia in tubes)
Kartagener syndrome triad: situs inversus totalis, chronic sinusitis, and bronchiectasis
Dx
curettage of nasal epithelium or bronchial brushings
- Shortening or absence of dynein arms (90%)
- microtubular transposition
- radial spoke and nexin link defects
- ciliary agenesis