Ultrastructural pathology of primary ciliary dyskinesia: Report about 125 cases in Germany

Diagnostic Pathology

Volumn 6, Issue 1, 2011, Pages

  Theegarten, Dirk ^a   Ebsen, Michael ^b  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b Stadtisches Krankenhaus Kiel   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CILIARY DYSKINESIA; EUKARYOTIC FLAGELLUM; FEMALE; GERMANY; HUMAN; INFANT; MALE; PATHOLOGY; PRESCHOOL CHILD; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CILIA; CILIARY MOTILITY DISORDERS; FEMALE; GERMANY; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; YOUNG ADULT;

EID: 82055175860     PISSN: None     EISSN: 17461596     Source Type: Journal    
DOI: 10.1186/1746-1596-6-115     Document Type: Article

References (28)

1. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006, 7:125-148. 10.1146/annurev.genom.7.080505.115610, 16722803.
2. Afzelius BA. A human syndrome caused by immotile cilia. Science 1976, 193(4250):317-319. 10.1126/science.1084576, 1084576.
3. Ferkol T, Mitchison HM, O'Callaghan C, Leigh M, Carson J, Lie H, Rosenbluth D, Brody SL. Current issues in the basis mechanisms, pathophysiology, diagnosis and management of primary ciliary dyskinesia. Eur Respir Mon 2006, 37:291-313.
4. Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, Hesselmar B, Hogg C, Jorissen M, Lucas J, Nielsen KG, O'Callaghan C, Omran H, Pohunek P, Strippoli MP, Bush A. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009, 34:1264-1276. 10.1183/09031936.00176608, 19948909.
5. 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. 10.1183/09031936.98.12040982, 9817179.
6. 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. 10.1111/j.1651-2227.2002.tb03299.x, 12162599.
7. Bush A, Chodhari R, Collins N, Copeland F, Hall P, Harcourt J, Hariri M, Hogg C, Lucas J, Mitchison HM, O'Callaghan C, Phillips G. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007, 92:1136-1140. 10.1136/adc.2006.096958, 2066071, 17634184.
8. Lesic I, Maurer E, Strippoli MP, Kuehni CE, Barbato A, Frischer T. Primäre Ziliendyskinesie in Österreich. Wien Klin Wochenschr 2009, 121:616-622. 10.1007/s00508-009-1197-4, 19921128.
9. Popper H, Jakse R. Diagnose und Aspekte der Pathogenese des Kartagener-Syndromes an Hand von Nasenschleimhautbiopsien. Wien Klin Wochenschr 1982, 94:370-372.
10. Milara J, Armengot M, Mata M, Morcillo EJ, Cortijo J. Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. Am J Rhinol Allergy 2010, 24:181-185. 10.2500/ajra.2010.24.3468, 20537283.
11. 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.
12. Santamaria F, de Santi MM, Grillo G, Sarnelli P, Caterino M, Greco L. Ciliary motility at light microscopy: a screening technique for ciliary defects. Acta Paediatr 1999, 88:853-857. 10.1111/j.1651-2227.1999.tb00061.x, 10503685.
13. Felix H, Holzmann D. Function and ultrastructure of cilia in primary ciliary dyskinesia. Schweiz Med Wochenschr 2000, 130:699-704.
14. Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004, 169:459-467.
15. Carlén B, Stenram U. Primary ciliary dyskinesia: a review. Ultrastruct Pathol 2005, 29:217-220. 10.1080/01913120590951220, 16036877.
16. Plesec TP, Ruiz A, McMahon JT, Prayson RA. Ultrastructural abnormalities of respiratory cilia: a 25-year experience. Arch Pathol Lab Med 2008, 132:1786-1791.
17. Stannard WA, Chilvers MA, Rutman AR, Williams CD, O'Callaghan C. Diagnostic testing of patients suspected of primary ciliary dyskinesia. Am J Respir Crit Care Med 2010, 181:307-314. 10.1164/rccm.200903-0459OC, 19910612.
18. Papon JF, Coste A, Roudot-Thoraval F, Boucherat M, Roger G, Tamalet A, Vojtek AM, Amselem S, Escudier E. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. Eur Respir J 2010, 35:1057-1063. 10.1183/09031936.00046209, 19840971.
19. Markmann HU, Matthus J. Das primäre ziliare Dyskinesiesyndrom. Ultrastrukturelle Beobachtungen bei einem Zwillingspaar. Pathologe 1990, 11:80-84.
20. Theegarten D, Anhenn O, Hotzel H, Wagner M, Marra A, Stamatis G, Mogilevski G, Sachse K. A comparative ultrastructural and molecular biological study on Chlamydia psittaci infection in alpha-1 antitrypsin deficiency and non-alpha-1 antitrypsin deficiency emphysema versus lung tissue of patients with hamartochondroma. BMC Infect Dis 2004, 4:38. 10.1186/1471-2334-4-38, 521078, 15383149.
21. Armengot M, Milara J, Mata M, Carda C, Cortijo J. Cilia motility and structure in primary and secondary ciliary dyskinesia. Am J Rhinol Allergy 2010, 24:175-180. 10.2500/ajra.2010.24.3448, 20537282.
22. Sirvanci S, Seda Uyan Z, Ercan F, Karadag B, Ersu R, Karakoc F, Dagli E, San T. Quantitative analysis of ciliary ultrastructure in patients with primary ciliary dyskinesia. Acta Histochem 2008, 110:34-41. 10.1016/j.acthis.2007.05.006, 17698172.
23. 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.
24. Jorissen M, Willems T. The secondary nature of ciliary (dis)orientation in secondary and primary ciliary dyskinesia. Acta Otolaryngol 2004, 124:527-531. 10.1080/00016480410016270, 15224888.
25. Jorissen M, Willems T, Van der Schueren B, Verbeken E, De Boeck K. Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture. Acta Otorhinolaryngol Belg 2000, 54:343-356.
26. Escudier E, Couprie M, Duriez B, Roudot-Thoraval F, Millepied MC, Prulière-Escabasse V, Labatte L, Coste A. Computer-assisted analysis helps detect inner dynein arm abnormalities. Am J Respir Crit Care Med 2002, 166:1257-1262. 10.1164/rccm.2111070, 12403696.
27. 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. 10.1016/S0091-6749(03)01799-8, 13679810.
28. O'Callaghan C, Rutman A, Williams GM, Hirst RA. Inner dynein arm defects causing Primary Ciliary Dyskinesia: Repeat testing required. Eur Respir J 2011, 38:603-607. 10.1183/09031936.00108410, 21406509.