Primary ciliary dyskinesia: Improving the diagnostic approach

Current Opinion in Pediatrics

Volumn 21, Issue 3, 2009, Pages 320-325

  Leigh, Margaret W ^a   Zariwala, Maimoona A ^a   Knowles, Michael R ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

Ciliopathies; Dynein; Nasal nitric oxide; Primary ciliary dyskinesia

Indexed keywords

DYNEIN ADENOSINE TRIPHOSPHATASE; NITRIC OXIDE;

CILIARY DYSKINESIA; CILIARY MOTILITY; CILIATED EPITHELIUM; DIAGNOSTIC TEST; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HETEROTAXY SYNDROME; HUMAN; MOLECULAR GENETICS; MUCOCILIARY CLEARANCE; NASAL NITRIC OXIDE MEASUREMENT; NEONATAL RESPIRATORY DISTRESS SYNDROME; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SCREENING TEST; TRANSMISSION ELECTRON MICROSCOPY;

BREATH TESTS; CHILD; CILIA; DIAGNOSIS, DIFFERENTIAL; DNA; DNA MUTATIONAL ANALYSIS; DYNEIN ATPASE; HUMANS; KARTAGENER SYNDROME; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION; NASAL CAVITY; NITRIC OXIDE;

EID: 67651120038     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e328329cddb     Document Type: Review

References (46)

1. Satir P, Christensen ST. Structure and function of mammalian cilia. Histochem Cell Biol 2008; 129:687-693. This study provides a comprehensive review of cilia biology.
2. Marshall WF. The cell biological basis of ciliary disease. J Cell Biol 2008; 180:17-21. This study provides an overview of the complexity of ciliopathies.
3. Fliegauf M, Benzing T, Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 2007; 8:880-893. This excellent, comprehensive review article provides a detailed discussion of cilia (defining types of cilia and their functions), and then addresses the wide range of diseases associated with ciliopathies, including PCD. (Pubitemid 47622564)
4. Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007; 92:1136-1140. This study outlines the key clinical features that distinguish PCD and approach to diagnosis. (Pubitemid 350221463)
5. Bush A, Cole P, Hariri M, et al. Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J 1998; 12:982-988. (Pubitemid 28491678)
6. Coren ME, Meeks M, Morrison I, et al. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 2002; 91:667-669. (Pubitemid 34779328)
7. Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004; 169:459-467. (Pubitemid 38187117)
8. Leigh MW. Primary ciliary dyskinesia. In: Chernick V, Boat TF, Wilmott RW, Bush A, editors. Kendig's disorders of the respiratory tract in children, 7th ed. Philadelphia: Saunders-Elsevier; 2006. pp. 485-490.
9. Hossain T, Kappelman MD, Perez-Atayde AR, et al. Primary ciliary dyskinesia as a cause of neonatal respiratory distress: implications for the neonatologist. J Perinatol 2003; 23:684-687. (Pubitemid 37541013)
10. Ferkol T, Leigh M. Primary ciliary dyskinesia and newborn respiratory distress. Semin Perinatol 2006; 30:335-340. (Pubitemid 44827224)
11. Jain K, Padley SP, Goldstraw EJ, et al. Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care. Clin Radiol 2007; 62:986-993. This is one of the three recent studies defining radiographic features in PCD and focuses on the pediatric age group. (Pubitemid 47317140)
12. Kennedy MP, Noone PG, Leigh MW, et al. High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol 2007; 188:1232-1238. This is one of the three recent studies defining radiographic features in PCD and spans the age range from 1 to 73 years.
13. Santamaria F, Montella S, Tiddens HA, et al. Structural and functional lung disease in primary ciliary dyskinesia. Chest 2008; 134:351-357. This is one of the three recent studies defining radiographic features in PCD and includes a comparison of severity of changes in PCD with age-matched CF patients.
14. Brown DE, Pittman JE, Leigh MW, et al. Early lung disease in young children with primary ciliary dyskinesia. Pediatr Pulmonol 2008; 43:514-516. This manuscript describes structural and functional changes in early PCD lung disease in three young children (less than 4 years of age).
15. Kennedy MP, Omran H, Leigh MW, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007; 115:2814-2821. This international, multicenter, retrospective study is the first large study to demonstrate that heterotaxy and complex congenital heart disease are associated with PCD. (Pubitemid 46869667)
16. Tan SY, Rosenthal J, Zhao XQ, et al. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J Clin Invest 2007; 117:3742-3752. This study demonstrates that heterotaxy and complex congenital heart defects result from mutation in DNAH5, one of the PCD genes, in a mutant mouse model. (Pubitemid 350224085)
17. Brueckner M. Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. Circulation 2007; 115:2793-2795. This editorial to the article by Kennedy et al. [15••] discusses the potential role of cilia defects in heterotaxy and congenital heart disease. (Pubitemid 46869664)
18. O'Callaghan C, Chilvers M, Hogg C, et al. Diagnosing primary ciliary dyskinesia. Thorax 2007; 62:656-657. This study describes the role of specialized PCD diagnostic centers in the UK.
19. Schwabe GC, Hoffmann K, Loges NT, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat 2008; 29:289-298. This study is the first to demonstrate definitively that PCD occurs in individuals with normal ciliary ultrastructure through a genetic diagnosis (mutations in one of the ODA genes, DNAH11). (Pubitemid 351240602)
20. Wessels MW, Avital A, FaillyM, et al. Candidate gene analysis in three families with acilia syndrome. Am J Med Genet 2008; 146A:1765-1767.
21. 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. (Pubitemid 37108555)
22. Narang I, Ersu R, Wilson NM, Bush A. Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance. Thorax 2002; 57:586-589. (Pubitemid 34761759)
23. Wodehouse T, Kharitonov SA, Mackay IS, et al. Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia. Eur Respir J 2003; 21:43-47. (Pubitemid 36150299)
24. Corbelli R, Bringolf-Isler B, Amacher A, et al. Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia. Chest 2004; 126:1054-1059. (Pubitemid 39391231)
25. Balfour-Lynn IM, Laverty A, Dinwiddie R. Reduced upper airway nitric oxide in cystic fibrosis. Arch Dis Child 1996; 75:319-322. (Pubitemid 26354603)
26. Nakano H, Ide H, Imada M, et al. Reduced nasal nitric oxide in diffuse panbronchiolitis. Am J Respir Crit Care Med 2000; 162:2218-2220. (Pubitemid 32051690)
27. Colantonio D, Brouillette L, Parikh A, Scadding GK. Paradoxical low nasal nitric oxide in nasal polyposis. Clin Exp Allergy 2002; 32:698-701. (Pubitemid 34534014)
28. American Thoracic Society and European Respiratory Society. ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005. Am J Respir Crit Care Med 2005; 171:912-930.
29. Santamaria F, De Stefano S, Montella S, et al. Nasal nitric oxide assessment in primary ciliary dyskinesia using aspiration, exhalation, and humming. Med Sci Monit 2008; 14:CR80-CR85. This study compares effectiveness of maneuvers that may improve performance of nasal nitric oxide measurement. (Pubitemid 351263383)
30. Piacentini GL, Bodini A, Peroni D, et al. Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children. Respir Med 2008; 102:541-547. This study reviews techniques and challenges of measuring nasal nitric oxide in children. (Pubitemid 352025813)
31. Corbelli R, Hammer J. Measurement of nasal nitric oxide. Paediatr Respir Rev 2007; 8:269-272. This study reviews techniques and challenges of measuring nasal nitric oxide in children.
32. de Winter-de Groot KM, van der Ent CK. Measurement of nasal nitric oxide: evaluation of six different sampling methods. Eur J Clin Invest 2009; 39:72-77. This study compares effectiveness of maneuvers that may improve performance of nasal nitric oxide measurement.
33. Gupta R, Gupta N, Turner SW. A methodology for measurements of nasal nitric oxide in children under 5 year. Pediatr Allergy Immunol 2008; 19:233-238. This study evaluates techniques for measuring nasal nitric oxide in children less than 5 years of age.
34. Jain B, Rubinstein I, Robbins RA, et al. Modulation of airway epithelial cell ciliary beat frequency by nitric oxide. BiochemBiophys Res Commun 1993; 191:83-88. (Pubitemid 23222606)
35. Stout SL, Wyatt TA, Adams JJ, Sisson JH. Nitric oxide-dependent cilia regulatory enzyme localization in bovine bronchial epithelial cells. J Histochem Cytochem 2007; 55:433-442.
36. Failly M, Saitta A, Muñoz A, et al. DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration 2008; 76:198-204.
37. Guichard C, Harricane MC, Lafitte JJ, et al. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am J Hum Genet 2001; 68:1030-1035. (Pubitemid 32289746)
38. Hornef N, Olbrich H, Horvath J, et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 2006; 174:120-126. (Pubitemid 44015384)
39. Olbrich H, Haffner K, Kispert A, et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002; 30:43-44. (Pubitemid 34887705)
40. Pennarun G, Escudier E, Chapelin C, et al. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet 1999; 65:1508-1519. (Pubitemid 30468663)
41. Zariwala M, Noone PG, Sannuti A, et al. Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia. Am J Respir Cell Mol Biol 2001; 25:577-583. (Pubitemid 33087108)
42. Zariwala MA, Leigh MW, Ceppa F, et al. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med 2006; 174:858-866. (Pubitemid 44564785)
43. Duriez B, Duquesnoy P, Escudier E, et al. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. ProcNatl AcadSciUSA2007; 104:3336-3341.
44. Loges NT, Olbrich H, Fenske L, et al. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 2008; 83:547-558. This study is the first to show that mutations in previously identified dynein gene cause PCD with defective ODAs.
45. Omran H, Kobayashi D, Olbrich H, et al. Ktu/PF13 is required for cytoplasmic preassembly of axonemal dyneins. Nature 2008; 456:611-616. This study is the first to show that mutations in genes for cytoplasmic proteins alter dynein arm assembly and cause PCD with defective ODAs and IDAs.
46. Marthin JK, Mortensen J, Pressler T, Nielsen KG. Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia. Chest 2007; 132:966-976. The study is the first to define patterns of mucociliary clearance in PCD that may be useful for defining diagnosis.