In this study the ultrastructure of cilia in patients with primary ciliary dyskinesia was compared to that in patients with other respiratory infections and with that in healthy individuals. After statistical anaJysis of the findings, the prevalence and the specificity of morphological changes in primary ciliary dyskinesia were established. Guidelines were developed by which the existence of primary ciliary dyskinesia can be ascertained in biopsies of nasal mucosa via transmission electron microscopy.
AfzeliusBAEliassonRJohnsenรLindholmerC. Lack of dynein arms in immotile human spermatozoa. J Cell Biol1975; 66: 225โ32
2.
PedersenHRebbeH. Absence of arms in the axonema of immobile human spermatozoa. Biol Reprod1975; 12: 541โ4
3.
CamnerPMossbergBAfzeliusBA. Evidence of congenitally non-functioning cilia in the tracheobronchial tract in two subjects. Am Rev Respir Dis1975; 112: 807โ9
4.
PedersenHMygindN. Absence of axonemal arms in nasal mucosa cilia in Kartagener's syndrome. Nature1976; 262: 494โ5
5.
AfzeliusBAEliassonR. Flagellar mutants in man: On the heterogeneity of the immotile cilia syndrome. J Ultrastruct Res1979; 69: 43โ52
6.
Van der BaanSFeenstraLWeltevredenELeeneWVeermanAJP. Kartagener's syndrome: Different basic defects in cilia?Prog Respir Res1981; 17: 187โ9
7.
CamnerPAfzeliusBAEliassonRMossbergB. Relation between abnormalities of human sperm flagella and respiratory tract disease. Int J Androl1979; 2: 211โ24
8.
KonradovaVVavrovaVHlouskovaZTomanekAHoustekJ. Ultrastructure of bronchial epithelium in children with chronic or recurrent respiratory diseases. Eur J Respir Dis1982; 63: 516โ25
9.
CapederJMuellerWDalquenPCampanaA. Kartagener-Syndrom. Ein Beitrag zur Pathogenese und Therapie. Dtsch Med Wochenschr1982; 107: 1635โ9
10.
SturgessJMChaoJWongJAspinNTurnerJAP. Cilia with defective radial spokes. A cause of human respiratory disease. N Engl J Med1979; 300: 53โ6
11.
SchneebergerEEMcCormackJIssenbergHJSchusterSRGeraldPS. Heterogeneity of ciliary morphology in the immotile cilia syndrome in man. J Ultrastruct Res1980; 73: 34โ43
Van der BaanS. Primaire ciliaire dyskinesie. [Thesis]. Free University, Amsterdam, 1985: 185
22.
SleighMA. The nature and action of respiratory tract cilia. In: BrainJDProctorDFReidLM, eds. Respiratory defense mechanisms. New York: Marcel Dekker, Inc, 1976: 240โ88
23.
WakefieldSt JWaiteD. Abnormal cilia in Polynesians with bronchiectasis [Letter to the Editor]. Am Rev Respir Dis1981; 123: 143
24.
AntonelliMModestiAde AngelisMMarcoliniPLucarelliNCrifioS. Immotile cilia syndrome: Radial spokes deficiency in a patient with Kartagener's triad. Acta Paediatr Scand1981; 70: 571โ3
25.
LevisonHMindorffCMChaoJTurnerJAPSturgessJMStringerDA. Pathophysiology of the ciliary motility syndromes. Eur J Respir Dis [Suppl]1983; 64(suppl 127): 102โ16
26.
NielsenMHPedersenMChristensenBMygindN. Blind quantitative electron microscopy of cilia from patients with primary ciliary dyskinesia and from normal subjects. Eur J Respir Dis [Suppl]1983; 64(suppl 27): 19โ30
27.
NeusteinHBNickersonBO'NealM. Kartagener's syndrome with absence of inner dynein arms of respiratory cilia. Am Rev Respir Dis1980; 122: 979โ81
28.
WakefieldSt JWaiteD. Abnormal cilia in Polynesians with bronchiectasis. Am Rev Respir Dis1980; 121: 1003โ10
29.
SturgessJMChaoJTurnerJAP. Transposition of ciliary microtubules. Another cause of impaired ciliary motility. N Engl J Med1980; 303: 318โ22
30.
ParkerGSMehlumDLBacher-WetmoreB. Ciliary dyskinesis: The immotile cilia syndrome. Laryngoscope1983; 93: 573โ7
31.
KatzSMDahmanovICarverJ, Kartagener's syndrome and abnormal cilia. [Letter to the Editor]. N Engl J Med1977; 297: 1011โ13
32.
HowellJTSchochetSSGoldmanAS. Ultrastructural defects of respiratory tract cilia associated with chronic infections. Arch Pathol Lab Med1980; 104: 52โ5
33.
FoxBBullTBOliverTN. The distribution and assessment of electron-microscopic abnormalities of human cilia. Eur J Respir Dis1983; 64: 11โ8
34.
AhonenAValavirtaK. Ultrastructure of cilia in pulmonary tuberculosis. Eur J Respir Dis1983; 64: 460โ3
35.
McDowellEMBarrettLAHarrisCCTrumpBF. Abnormal cilia in human bronchial epithelium. Arch Pathol Lab Med1976; 100: 429โ36
36.
FoxBBullTBArdenGB. Variations in the ultrastructure of human nasal cilia including abnormalities found in retinitis pigmentosa. J Clin Pathol1980; 33: 327โ35
37.
AfzeliusBA. The immotile-cilia syndrome and other ciliary diseases. Int Rev Exp Pathol1979; 19: 1โ43
38.
AfzeliusBA. Genetical and ultrastructural aspects of the immotile cilia syndrome. Am J Hum Genet1981; 33: 852โ64
SturgessJMTurnerJAP. Ultrastructural pathology of cilia in the immotile cilia syndrome. Perspect Pediatr Pathol1984; 8: 133โ61
45.
CarsonJLColierAMHuSS. Acquired ciliary defects in nasal epithelium of children with acute viral upper respiratory infections. N Engl J Med1985; 312: 463โ8
46.
SvedberghBJonssonVAfzeliusBA. Immotile cilia syndrome and the cilia of the eye. Graefes Arch Clin Exp Ophthalmol1981; 215: 265โ72
47.
PopperHJakseR. Diagnose und Aspekte zur Pathogenese des Kartagener-Syndroms an Hand von Nasenschleimhautbiopsien. Wien Klin Wochenschr1982; 94: 370โ2
48.
Van der BaanSVeermanAJPWulffraatNFeenstraL. Primary ciliary dyskinesia and ciliary activity. Acta Otolaryngol (Stockh)1986; 102: 274โ81