Up to date on primary ciliary dyskinesia in children

Early Human Development

Volumn 89, Issue SUPPL3, 2013, Pages

  Pifferi, Massimo ^a   Di Cicco, Maria ^a   Piras, Martina ^a   Cangiotti, Angela M ^b   Saggese, Giuseppe ^a  

^a UNIVERSITY HOSPITAL OF PISA   (Italy)

^b OSPEDALI RIUNITI   (Italy)

Author keywords

Diagnosis; Genetic mutations; Monitoring; Primary ciliary dyskinesia; Treatment

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ANTIBIOTIC AGENT; AZITHROMYCIN; BRONCHODILATING AGENT; CORTICOSTEROID; MACROLIDE; RECOMBINANT DEOXYRIBONUCLEASE; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AXONEME; BREATHING EXERCISE; BRONCHIECTASIS; BRONCHUS BIOPSY; CELL ULTRASTRUCTURE; CHRONIC SINUSITIS; CILIARY DYSKINESIA; CILIARY MOTILITY; ELECTRON MICROSCOPY; EXERCISE; GENETIC ANALYSIS; HUMAN; LOWER RESPIRATORY TRACT INFECTION; LUNG ALVEOLUS CELL; LUNG CLEARANCE; LUNG LOBECTOMY; MICROTUBULE; MUCOCILIARY TRANSPORT; MUTATIONAL ANALYSIS; NEBULIZATION; NOSE POLYP; OPEN READING FRAME; OTITIS MEDIA; OTORRHEA; PHYSIOTHERAPY; PRACTICE GUIDELINE; PROTEIN EXPRESSION; PSEUDOMONAS AERUGINOSA; RESPIROMETRY; SITUS INVERSUS; STREPTOCOCCUS PNEUMONIAE; STRUCTURE ACTIVITY RELATION; TYMPANOSTOMY TUBE; UPPER RESPIRATORY TRACT INFECTION;

DIAGNOSIS; GENETIC MUTATIONS; MONITORING; PRIMARY CILIARY DYSKINESIA; TREATMENT;

AXONEME; CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; INFANT, NEWBORN; KARTAGENER SYNDROME; MUTATION;

EID: 84887202069     PISSN: 03783782     EISSN: 18726232     Source Type: Journal    
DOI: 10.1016/j.earlhumdev.2013.07.022     Document Type: Article

References (31)

1. Bush A., Hogg C. Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy. Expert Rev Respir Med 2012, 6:663-682.
2. Fliegauf M., Benzing T., Omran H. When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 2007, 8:880-893.
3. Hildebrandt F., Benzing T., Katsanis N. Ciliopathies. N Engl J Med 2011, 364:1533-1543.
4. Waters A.M., Beales P.L. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol 2011, 26:1039-1056.
5. Leigh M.W., Pittman J.E., Carson J.L., Ferkol T.W., Dell S.D., Davis S.D., et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med 2009, 11:473-487.
6. Bush A., Chodhari R., Collins N., Copeland F., Hall P., Harcourt J., et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007, 92:1136-1140.
7. Pifferi M., Bush A., Di Cicco M., Pradal U., Ragazzo V., Macchia P., et al. Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia. Eur Respir J 2010, 35:787-794.
8. Stillwell P.C., Wartchow E.P., Sagel S.D. Primary ciliary dyskinesia in children: a review for pediatricians, allergists, and pediatric pulmonologists. Pediatr Allergy Immunol Pulmonol 2011, 24:191-196.
9. Leigh M.W., O'Callaghan C., Knowles M.R. The challenges of diagnosing primary ciliary dyskinesia. Proc Am Thorac Soc 2011, 8:434-437.
10. Kuehni C.E., Frischer T., Strippoli M.P., Maurer E., Bush A., Nielsen K.G., et al. ERS Task Force on Primary Ciliary Dyskinesia in Children. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J 2010, 36:1248-1258.
11. Novarino G., Akizu N., Gleeson J.G. Modeling human disease in humans: the ciliopathies. Cell 2011, 147:70-79.
12. Barbato A., Frischer T., Kuehni C.E., Snijders D., Azevedo I., Baktai G., et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009, 34:1264-1276.
13. Knowles M.R., Leigh M.W., Carson J.L., Davis S.D., Dell S.D., Ferkol T.W., et al. Genetic Disorders of Mucociliary Clearance Consortium. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 2012, 67:433-441.
14. Shoemark A., Dixon M., Corrin B., Dewar A. Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. J Clin Pathol 2012, 65:267-271.
15. Davis E.E., Katsanis N. The ciliopathies: a transitional model into systems biology of human genetic disease. Curr Opin Genet Dev 2012, 22:290-303.
16. Schwabe G.C., Hoffmann K., Loges N.T., Birker D., Rossier C., de Santi M.M., et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat 2008, 29:289-298.
17. Blouin J.L., Meeks M., Radhakrishna U., Sainsbury A., Gehring C., Saïl G.D., et al. Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. Eur J Hum Genet 2000, 8:109-118.
18. Geremek M., Bruinenberg M., Zietkiewicz E., Pogorzelski A., Witt M., Wijmenga C. Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes. Hum Genet 2011, 129:283-293.
19. Bartoloni L., Blouin J.L., Pan Y., Gehrig C., Maiti A.K., Scamuffa N., et al. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A 2002, 99:10282-10286.
20. Geremek M., Witt M. Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. J Appl Genet 2004, 45:347-361.
21. Pifferi M., Montemurro F., Cangiotti A.M., Ragazzo V., Di Cicco M., Vinci B., et al. Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia. Thorax 2009, 64:1077-1081.
22. Pifferi M., Caramella D., Cangiotti A.M., Ragazzo V., Macchia P., Boner A.L. Nasal nitric oxide in atypical primary ciliary dyskinesia. Chest 2007, 131:870-873.
23. Corbelli R., Hammer J. Measurement of nasal nitric oxide. Paediatr Respir Rev 2007, 8:269-272.
24. Hogg C., Bush A. Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit?. Thorax 2012, 67:377-378.
25. Pifferi M., Bush A., Pioggia G., Caramella D., Tartarisco G., Di Cicco M., et al. Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia. Thorax 2012, 67:993-999.
26. Lucas J.S.A., Walker W.T., Kuehni C.E., Lazor R. Primary ciliary dyskinesia. Eur Respir Mon 2011, 54:201-217.
27. Desai M., Weller P.H., Spencer D.A. Clinical benefit from nebulized human recombinant DNase in Kartagener's syndrome. Pediatr Pulmonol 1995, 20:307-308.
28. ten Berge M., Brinkhorst G., Kroon A.A., de Jongste J.C. DNase treatment in primary ciliary dyskinesia - assessment by nocturnal pulse oximetry. Pediatr Pulmonol 1999, 27:59-61.
29. Yoshioka D., Sakamoto N., Ishimatsu Y., Kakugawa T., Ishii H., Mukae H., et al. Primary ciliary dyskinesia that responded to long-term, low-dose clarithromycin. Intern Med 2010, 49:1437-1440.
30. Prulière-Escabasse V., Coste A., Chauvin P., Fauroux B., Tamalet A., Garabedian E.N., et al. Otologic features in children with primary ciliary dyskinesia. Arch Otolaryngol Head Neck Surg 2010, 136:1121-1126.
31. Chhin B., Negre D., Merrot O., Pham J., Tourneur Y., Ressnikoff D., et al. Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy. PLoS Genet 2009, 5:e1000422.