Nasal potential difference: Best or average result for CFTR function as diagnostic criteria for cystic fibrosis?

Journal of Cystic Fibrosis

Volumn 14, Issue 3, 2015, Pages 310-316

  Keenan, Katherine ^a   Avolio, Julie ^a   Rueckes Nilges, Claudia ^b   Tullis, Elizabeth ^c   Gonska, Tanja ^a   Naehrlich, Lutz ^b  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

Cystic fibrosis; Diagnosis; Nasal potential difference

Indexed keywords

CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ISOPRENALINE; BIOLOGICAL MARKER;

ADULT; ARTICLE; AVERAGING; COHORT ANALYSIS; CONTROLLED STUDY; CYSTIC FIBROSIS; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; NASAL POTENTIAL DIFFERENCE; NOSE; NOSE MUCOSA; POTENTIAL DIFFERENCE; RESPIRATORY TRACT PARAMETERS; RETROSPECTIVE STUDY; SWEAT TEST; TISSUE PERFUSION; YOUNG ADULT; CLINICAL TRIAL; METABOLISM; MULTICENTER STUDY; PHENOTYPE; PHYSIOLOGY; REPRODUCIBILITY;

ADULT; BIOMARKERS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; MALE; NASAL MUCOSA; PHENOTYPE; REPRODUCIBILITY OF RESULTS; YOUNG ADULT;

EID: 84937518624     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2014.09.006     Document Type: Article

References (28)

1. De Boeck K., Wilschanski M., Castellani C., et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006, 61(7):627-635.
2. Farrell P.M., Rosenstein B.J., White T.B., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis foundation consensus report. J Pediatr 2008, 153(2):S4-S14.
3. Gonska T., Choi P., Stephenson A., et al. Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease. Chest 2012, 142(4):996-1004.
4. Ooi C.Y., Dupuis A., Ellis L., et al. Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?. Thorax 2012, 67(7):618-624.
5. Segal I., Yaakov Y., Adler S.N., et al. Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis. J Clin Gastroenterol 2008, 42(7):810-814.
6. Knowles M., Gatzy J., Boucher R. Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis. N Engl J Med 1981, 305(25):1489-1495.
7. Knowles M.R., Paradiso A.M., Boucher R.C. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther 1995, 6(4):445-455.
8. Standaert T.A., Boitano L., Emerson J., et al. Standardized procedure for measurement of nasal potential difference: an outcome measure in multicenter cystic fibrosis clinical trials. Pediatr Pulmonol 2004, 37(5):385-392.
9. Rowe S.M., Clancy J.P., Wilschanski M. Nasal potential difference measurements to assess CFTR ion channel activity. Methods Mol Biol 2011, 741:69-86.
10. Yaakov Y., Kerem E., Yahav Y., et al. Reproducibility of nasal potential difference measurements in cystic fibrosis. Chest 2007, 132(4):1219-1226.
11. Clancy J.P., Rowe S.M., Bebok Z., et al. No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. Am J Respir Cell Mol Biol 2007, 37(1):57-66.
12. De Boeck K., Derichs N., Fajac I., et al. New clinical diagnostic procedures for cystic fibrosis in Europe. J Cyst Fibros 2011, 10(Suppl. 2):S53-S66.
13. Naehrlich L., Ballmann M., Davies J., et al. Nasal potential difference measurements in diagnosis of cystic fibrosis: an international survey. J Cyst Fibros 2014, 13(1):24-28.
14. Leonard A., Lubamba B., Dhooge B., et al. Comparative variability of nasal potential difference measurements in human and mice. Open J Respir Dis 2012, 2:43-56.
15. Middleton P.G., House H.H. Measurement of airway ion transport assists the diagnosis of cystic fibrosis. Pediatr Pulmonol 2010, 45(8):789-795.
16. Berger G., Balum-Azim M., Ophir D. The normal inferior turbinate: histomorphometric analysis and clinical implications. Laryngoscope 2003, 113(7):1192-1198.
17. van Meegen M.A., Terheggen-Lagro S.W., Koymans K.J., van der Ent C.K., Beekman J.M. Apical CFTR expression in human nasal epithelium correlates with lung disease in cystic fibrosis. PLoS One 2013, 8(3):e57617.
18. Chilvers M.A., Rutman A., O'Callaghan C. Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults. Thorax 2003, 58(4):333-338.
19. Chilvers M.A., McKean M., Rutman A., Myint B.S., Silverman M., O'Callaghan C. The effects of coronavirus on human nasal ciliated respiratory epithelium. Eur Respir J 2001, 18(6):965-970.
20. Brezillon S., Dupuit F., Hinnrasky J., et al. Decreased expression of the CFTR protein in remodeled human nasal epithelium from non-cystic fibrosis patients. Lab Invest 1995, 72(2):191-200.
21. Yeo N.K., Jang Y.J. Rhinovirus infection-induced alteration of tight junction and adherens junction components in human nasal epithelial cells. Laryngoscope 2010, 120(2):346-352.
22. Leal T., Fajac I., Wallace H.L., et al. Airway ion transport impacts on disease presentation and severity in cystic fibrosis. Clin Biochem 2008, 41(10-11):764-772.
23. Knowles M., Murray G., Shallal J., et al. Bioelectric properties and ion flow across excised human bronchi. J Appl Physiol 1984, 56(4):868-877.
24. De Boeck K., Kent L., Davies J., et al. CFTR biomarkers: time for promotion to surrogate end-point. Eur Respir J 2013, 41(1):203-216.
25. Rowe S.M., Liu B., Hill A., et al. Optimizing nasal potential difference analysis for CFTR modulator development: assessment of Ivacaftor in CF subjects with the G551D-CFTR mutation. PLoS One 2013, 8(7):e66955.
26. Wallace H.L., Barker P.M., Southern K.W. Nasal airway ion transport and lung function in young people with cystic fibrosis. Am J Respir Crit Care Med 2003, 168(5):594-600.
27. Bishop M.D., Freedman S.D., Zielenski J., et al. The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. Hum Genet 2005, 118(3-4):372-381.
28. Cantin A.M., Hanrahan J.W., Bilodeau G., et al. Cystic fibrosis transmembrane conductance regulator function is suppressed in cigarette smokers. Am J Respir Crit Care Med 2006, 173(10):1139-1144.