Diagnostic testing of patients suspected of primary ciliary dyskinesia

American Journal of Respiratory and Critical Care Medicine

Volumn 181, Issue 4, 2010, Pages 307-314

  Stannard, Wendy A ^a   Chilvers, Mark A ^a,b   Rutman, Andrew R ^a   Williams, Chris D ^a   O'Callaghan, Chris ^a  

^a UNIVERSITY OF LEICESTER   (United Kingdom)

^b BC CHILDREN S HOSPITAL   (Canada)

Author keywords

Bronchiectasis; Cilia; Ciliary beat pattern; Primary ciliary dyskinesia; Sinusitis

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CILIARY DYSKINESIA; CILIARY MOTILITY; CILIATED EPITHELIUM; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; ELECTRON MICROSCOPY; FEMALE; GOLD STANDARD; HUMAN; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; MALE; NASAL BIOPSY; PREDICTION AND FORECASTING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CILIA; EPITHELIUM; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KARTAGENER SYNDROME; MALE; MICROSCOPY, ELECTRON; MICROSCOPY, VIDEO; MIDDLE AGED; NASAL MUCOSA; ROC CURVE; YOUNG ADULT;

EID: 76149089851     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.200903-0459OC     Document Type: Article

References (35)

1. Knowles MR, Boucher RC. Mucus clearance as a primary innate defense mechanism for mammalian airways. J Clin Invest 2002;109:571-577.
2. Widdicombe JH. Regulation of the depth and composition of airway surface liquid. J Anat 2002;201:313-318.
3. Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 2002;91:667-669.
4. Ellerman A, Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J 1997;10:2376-2379.
5. Bush A, O'Callaghan C. Primary ciliary dyskinesia. Arch Dis Child 2002; 87:363-365; discussion 363-365.
6. Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: diagnosti and phenotypic features. Am J Respir Crit Care Med 2004;169:459-467.
7. Bush A, Cole P, Hariri M, Mackay I, Phillips G, O'Callaghan C, Wilson R, Warner JO. Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J 1998;12:982-988.
8. Rayner CF, Rutman A, Dewar A, Greenstone MA, Cole PJ, Wilson R. Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome. Am J Respir Crit Care Med 1996;153:1123-1129.
9. Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat 2008;29:289-298.
10. Chilvers MA, Rutman A, O'Callaghan C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy Clin Immunol 2003;112:518-524.
11. Chilvers MA, Rutman A, O'Callaghan C. Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults. Thorax 2003;58:333-338.
12. Chilvers MA, McKean M, Rutman A, Myint BS, Silverman M, O'Callaghan C. The effects of coronavirus on human nasal ciliated respiratory epithelium. Eur Respir J 2001;18:965-970.
13. Greenstone M, Rutman A, Dewar A, Mackay I, Cole PJ. Primary ciliary dyskinesia: cytological and clinical features.Q J Med 1988;67:405-423.
14. Afzelius B, Mossberg B, Bergstrom S. Immotile cilia syndrome (primary ciliary dyskinesia), including Kartagener syndrome. New York: McGraw-Hill Medical Publishing Division; 2001.
15. Stannard W, Rutman A, Wallis C, O'Callaghan C. Central microtubular agenesis causing primary ciliary dyskinesia. Am J Respir Crit Care Med 2004;169:634-637.
16. Cornillie FJ, Lauweryns JM, Corbeel L. Atypical bronchial cilia in children with recurrent respiratory tract infections: a comparative ultrastructural study. Pathol Res Pract 1984;178:595-604.
17. Chilvers MA, O'Callaghan C. Analysis of ciliary beat pattern and beat frequency using digital high speed imaging: comparison with the photomultiplier and photodiode methods. Thorax 2000;55:314-317.
18. Rutland J, Griffin WM, Cole PJ. Human ciliary beat frequency in epithelium from intrathoracic and extrathoracic airways. Am Rev Respir Dis 1982;125:100-105.
19. Currie DC, Pavia D, Agnew JE, Lopez-Vidriero MT, Diamond PD, Cole PJ, Clarke SW. Impaired tracheobronchial clearance in bronchiectasis. Thorax 1987;42:126-130.
20. de Iongh RU, Rutland J. Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia. Am J Respir Crit Care Med 1995; 151:1559-1567.
21. Pedersen M, Sakakura Y, Winther B, Brofeldt S, Mygind N. Nasal mucociliary transport, number of ciliated cells, and beating pattern in naturally acquired common colds. Eur J Respir Dis Suppl 1983;128: 355-365.
22. Wilson R, Alton E, Rutman A, Higgins P, Al Nakib W, Geddes DM, Tyrrell DA, Cole PJ. Upper respiratory tract viral infection and mucociliary clearance. Eur J Respir Dis 1987;70:272-279.
23. Carson JL, Collier AM, Hu SS. Acquired ciliary defects in nasal epithelium of children with acute viral upper respiratory infections. N Engl J Med 1985;312:463-468.
24. Rautiainen M, Nuutinen J, Kiukaanniemi H, Collan Y. Ultrastructural changes in human nasal cilia caused by the common cold and recovery of ciliated epithelium. Ann Otol Rhinol Laryngol 1992;101:982-987.
25. Feldman C, Read R, Rutman A, Jeffery PK, Brain A, Lund V, Mitchell TJ, Andrew PW, Boulnois GJ, Todd HC, et al. The interaction of Streptococcus pneumoniae with intact human respiratory mucosa in vitro. Eur Respir J 1992;5:576-583.
26. Rayner CF, Jackson AD, Rutman A, Dewar A, Mitchell TJ, Andrew PW, Cole PJ, Wilson R. Interaction of pneumolysin-sufficient and -deficient isogenic variants of Streptococcus pneumoniae with human respiratory mucosa. Infect Immun 1995;63:442-447.
27. Tsang KW, Rutman A, Kanthakumar K, Belcher J, Lund V, Roberts DE, Read RC, Cole PJ, Wilson R. Haemophilus influenzae infection of human respiratory mucosa in low concentrations of antibiotics. Am Rev Respir Dis 1993;148:201-207.
28. Tsang KW, Rutman A, Tanaka E, Lund V, Dewar A, Cole PJ, Wilson R. Interaction of Pseudomonas aeruginosa with human respiratory mucosa in vitro. Eur Respir J 1994;7:1746-1753.
29. Wilson R, Read R, Cole P. Interaction of Haemophilus influenzae with mucus, cilia, and respiratory epithelium. J Infect Dis 1992;165:S100-S102.
30. Thomas B, Rutman A, O'Callaghan C. Disrupted ciliated epithelium shows slower ciliary beat frequency and increased dyskinesa. Eur Respir J 2009;34:1-4.
31. O'Callaghan C,Moya E, Chetcuti P. Incidence of primary ciliary dyskinesia in the Asian population of Bradford (personal communication).
32. Wessels MW, den Hollander NS, Willems PJ. Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. Prenat Diagn 2003;23:239-242.
33. Karadag B, James AJ, Gultekin E, Wilson NM, Bush A. Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. Eur Respir J 1999;13:1402-1405.
34. Lundberg JO, Weitzberg E, Nordvall SL, Kuylenstierna R, Lundberg JM, Alving K. Primarily nasal origin of exhaled nitric oxide and absence in Kartagener's syndrome. Eur Respir J 1994;7:1501-1504.
35. Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009;34:1264-1276.