Cystic fibrosis transmembrane conductance regulator channel dysfunction in non-cystic fibrosis bronchiectasis

American Journal of Respiratory and Critical Care Medicine

Volumn 181, Issue 10, 2010, Pages 1078-1084

  Bienvenu, Thierry ^a,b   Sermet Gaudelus, Isabelle ^b,c   Burgel, Pierre Regis ^a,b   Hubert, Dominique ^a   Crestani, Bruno ^d   Bassinet, Laurence ^e   Dusser, Daniel ^a,b   Fajac, Isabelle ^a,b  

^a Hôpital Cochin ^*  (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d BICHAT HOSPITAL   (France)

^e CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

Author keywords

Bronchiectasis; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Nasal potential difference

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN;

ADULT; AIRWAY; ARTICLE; BACTERIAL COLONIZATION; BRONCHIECTASIS; CONTROLLED STUDY; CYSTIC FIBROSIS; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEMBRANE CONDUCTANCE; PHENOTYPE; POTENTIAL DIFFERENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PSEUDOMONAS AERUGINOSA; STAPHYLOCOCCUS AUREUS; SWEAT TEST; AGED; CASE CONTROL STUDY; CELL MEMBRANE POTENTIAL; CHEMISTRY; GENETICS; ISOLATION AND PURIFICATION; METABOLISM; MICROBIOLOGY; MIDDLE AGED; MUTATION; NOSE MUCOSA; PATHOPHYSIOLOGY; PHYSIOLOGY; PSEUDOMONAS INFECTION; STAPHYLOCOCCUS INFECTION; SWEAT;

ADULT; AGED; BRONCHIECTASIS; CASE-CONTROL STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENOTYPE; HUMANS; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MUTATION; NASAL MUCOSA; PHENOTYPE; PSEUDOMONAS AERUGINOSA; PSEUDOMONAS INFECTIONS; STAPHYLOCOCCAL INFECTIONS; STAPHYLOCOCCUS AUREUS; SWEAT; YOUNG ADULT;

EID: 77953255282     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.200909-1434OC     Document Type: Article

References (37)

1. Pasteur MC, Helliwell SM, Houghton SJ, Webb SC, Foweraker JE, Coulden RA, Flower CD, Bilton D, Keogan MT. An investigation into causative factors in patients with bronchiectasis. Am J Respir Crit Care Med 2000;162:1277-1284.
2. De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61:627-635. (Pubitemid 44035145)
3. Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, et al. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet 2009;17:51-65.
4. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr 2008;153:S4-S14. (Pubitemid 351970581)
5. Noone PG, Knowles MR. "CFTR-opathies": disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001;2:328-332.
6. Dumur V, Lafitte JJ, Gervais R, Debaecker D, Kesteloot M, Lalau G, Roussel P. Abnormal distribution of cystic fibrosis delta F508 allele in adults with chronic bronchial hypersecretion. Lancet 1990;335:1340. (Pubitemid 20186404)
7. Divac A, Nikolic A, Mitic-Milikic M, Nagorni-Obradovic L, Petrovic-Stanojevic N, Dopudja-Pantic V, Nadaskic R, Savic A, Radojkovic D. CFTR mutations and polymorphisms in adults with disseminated bronchiectasis: a controversial issue. Thorax 2005;60:85. (Pubitemid 40101026)
8. King PT, Freezer NJ, Holmes PW, Holdsworth SR, Forshaw K, Sart DD. Role of CFTR mutations in adult bronchiectasis. Thorax 2004;59:357-358. (Pubitemid 38496762)
9. Tzetis M, Efthymiadou A, Strofalis S, Psychou P, Dimakou A, Pouliou E, Doudounakis S, Kanavakis E. CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Hum Genet 2001;108:216-221. (Pubitemid 32297568)
10. Bombieri C, Benetazzo M, Saccomani A, Belpinati F, Gile LS, Luisetti M, Pignatti PF. Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum Genet 1998;103:718-722. (Pubitemid 29020770)
11. Casals T, De-Gracia J, Gallego M, Dorca J, Rodriguez-Sanchon B, Ramos MD, Gimenez J, Cistero-Bahima A, Olveira C, Estivill X. Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? Clin Genet 2004;65:490-495.
12. Girodon E, Cazeneuve C, Lebargy F, Chinet T, Costes B, Ghanem N, Martin J, Lemay S, Scheid P, Housset B, et al. CFTR gene mutations in adults with disseminated bronchiectasis. Eur J Hum Genet 1997;5:149-155. (Pubitemid 27356702)
13. Ziedalski TM, Kao PN, Henig NR, Jacobs SS, Ruoss SJ. Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection. Chest 2006;130:995-1002.
14. Knowles M, Gatzy J, Boucher R. Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis. N Engl J Med 1981;305:1489-1495. (Pubitemid 12244203)
15. Bienvenu T, Hubert D, Burgel PR, Crestani B, Bassinet L, Dusser D, Fajac I. CFTR mutations and nasal transepithelial transport in diffuse bronchiectasis. Pediatr Pulmonol 2009;S32:269.
16. McGuinness G, Naidich DP. CT of airways disease and bronchiectasis. Radiol Clin North Am 2002;40:1-19.
17. LeGrys VA, Yankaskas JR, Quittell LM, Marshall BC, Mogayzel PJ Jr. Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines. J Pediatr 2007;151:85-89. (Pubitemid 46935183)
18. Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993;73:1251-1254. (Pubitemid 23201140)
19. Zielenski J, Tsui LC. Cystic fibrosis: genotypic and phenotypic variations. Annu Rev Genet 1995;29:777-807. (Pubitemid 26005359)
20. Knowles MR, Paradiso AM, Boucher RC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther 1995;6:445-455.
21. Fajac I, Hubert D, Guillemot D, Honore I, Bienvenu T, Volter F, Dall'Ava-Santucci J, Dusser DJ. Nasal airway ion transport is linked to the cystic fibrosis phenotype in adult patients. Thorax 2004;59:971-976. (Pubitemid 39490783)
22. Wilschanski M, Famini H, Strauss-Liviatan N, Rivlin J, Blau H, Bibi H, Bentur L, Yahav Y, Springer H, Kramer MR, et al. Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J 2001;17:1208-1215. (Pubitemid 32717480)
23. Kerem E, Corey M, Gold R, Levison H. Pulmonary function and clinical course in patients with cystic fibrosis after pulmonary colonization with Pseudomonas aeruginosa. J Pediatr 1990;116:714-719. (Pubitemid 20162819)
24. Konstan MW, Morgan WJ, Butler SM, Pasta DJ, Craib ML, Silva SJ, Stokes DC, Wohl ME, Wagener JS, Regelmann WE, et al. Risk factors for rate of decline in forced expiratory volume in one second in children and adolescents with cystic fibrosis. J Pediatr 2007;151:134-139.
25. Schaedel C, de Monestrol I, Hjelte L, Johannesson M, Kornfalt R, Lindblad A, Strandvik B, Wahlgren L, Holmberg L. Predictors of deterioration of lung function in cystic fibrosis. Pediatr Pulmonol 2002;33:483-491. (Pubitemid 34547870)
26. Pellegrino R, Viegi G, Brusasco V, Crapo RO, Burgos F, Casaburi R, Coates A, van der Grinten CP, Gustafsson P, Hankinson J, et al. Interpretative strategies for lung function tests. Eur Respir J 2005;26:948-968. (Pubitemid 41632054)
27. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67:117-133.
28. Wilschanski M, Dupuis A, Ellis L, Jarvi K, Zielenski J, Tullis E, Martin S, Corey M, Tsui LC, Durie P. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med 2006;174:787-794. (Pubitemid 44511660)
29. Danner I, Boisseau P, Chailleux E, Escande D. Respiratory epithelial ion transport in patients with disseminated bronchiectasis. Eur Respir J 1999;13:1276-1280. (Pubitemid 29357142)
30. Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T. Could a defective epithelial sodium channel lead to bronchiectasis. Respir Res 2008;9:46-53.
31. Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet 2005;14:3493-3498. (Pubitemid 41672131)
32. Plannels-Cases R, Jentsch TJ. Chloride channelopathies. Biochim Biophys Acta 2009;1792:173-189.
33. Sermet-Gaudelus I, Dechaux M, Vallee B, Fajac A, Girodon E, Nguyen-Khoa T, Marianovski R, Hurbain I, Bresson JL, Lenoir G, et al. Chloride transport in nasal ciliated cells of cystic fibrosis heterozygotes. Am J Respir Crit Care Med 2005;171:1026-1031. (Pubitemid 40616953)
34. Fajac I, Viel M, Gaitch N, Hubert D, Bienvenu T. Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease. Eur Respir J 2009;34:772-773.
35. Southern KW. Cystic fibrosis and formes frustes of CFTR-related disease. Respiration 2007;74:241-251. (Pubitemid 46828133)
36. Feldmann D, Couderc R, Audrezet MP, Ferec C, Bienvenu T, Desgeorges M, Claustres M, Mittre H, Blayau M, Bozon D, et al. CFTR genotypes in patients with normal or borderline sweat chloride levels. Hum Mutat 2003;22:340-346.
37. Mall M, Grubb BR, Harkema JR, O'Neal WK, Boucher RC. Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice. Nat Med 2004;10:487-493. (Pubitemid 38667907)