Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis

European Respiratory Journal

Volumn 10, Issue 9, 1997, Pages 2018-2022

  Ho, L P ^a   Samways, J M ^a   Porteous, D J ^a   Dorin, J R ^a   Carothers, A ^a   Greening, A P ^a   Innes, J A ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

Chloride; Cystic fibrosis; Genotype; Lung function; Nasal potential difference

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; FEMALE; FORCED EXPIRATORY VOLUME; GENOTYPE; HUMAN; LUNG FUNCTION; MALE; NOSE MUCOSA; POTENTIAL DIFFERENCE; PRIORITY JOURNAL;

ADULT; AMILORIDE; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; FORCED EXPIRATORY VOLUME; GENOTYPE; HUMANS; ISOPROTERENOL; MALE; MEMBRANE POTENTIALS; MUTATION; NASAL MUCOSA;

EID: 0030924036     PISSN: 09031936     EISSN: None     Source Type: Journal    
DOI: 10.1183/09031936.97.10092018     Document Type: Article

References (16)

1. Stutts M, Canessa C, Olsen J, et al. CFTR as a cAMP dependent regulator of sodium channels. Science 1995; 269: 847-850.
2. Johansen HK, Nir M, Hoiby N, Koch C, Schwartz M. Severity of CF in patients homozygous and heterozygous for ΔF508 mutation. Lancet 1991; 27: 665-669.
3. Kerem E, Corey M, Kerem BS, et al. The relationship between genotype and phenotype in CF-analysis of the most common mutation in ΔF508. N Engl J Med 1990. 323; 22: 1517-1522.
4. Gan KH, Veeze H, van den Ouweland A, et al. A CF mutation associated with mild lung disease. N Engl J Med 1995; 333: 95-99.
5. Borgo, Gasparini P, Bonizzato A, Mastella G, Pignatti PF. CF: the ΔF508 mutation does not lead to an exceptionally severe phenotype. A cohort study. Eur J Pediatr 1993; 152: 1006-1011.
6. The CF Genotype-phenotype consortium. Correlation between genotype and phenotype in patient with CF. N Engl J Med 1993; 329: 1308-1313.
7. Veeze H, Halley D, Bijman J, Jongste J, Jonge H, Sinaasappel M. Determinants of mild clinical symptoms in CF patients. J Clin Invest 1994 93: 461-466
8. Knowles M, Paradiso A, Bouchier R. In vivo nasal PD: techniques and protocols for assessing efficacy of gene transfer in CF. Human Gene Ther 1995; 6: 445-455.
9. Middleton P, Geddes D, Alton E. Protocols for in vivo measurement of the ion transport defects in CF nasal epithelium. Eur Respir J 1994; 7: 2050-2056.
10. Alton E, Currie D, Logan Sinclair R, Warner J, Hodsaon M, Geddes D. Nasal PD: a clinical diagnostic test for CF. Eur Respir J 1990; 3: 922-926.
11. McLachlan G, Ho LP, Davidson Smith H, et al. Laboratory and clinical studies in support of CF gene therapy using pCMV-CFTR/DOTAP. Gene Therapy 1996; 3: 1113-1123.
12. Welsh M, Smith A. Molecular mechanism of CFTR channel dysfunction in CF. Cell 1993; 73: 1251-1254.
13. Conway SP, Pond MN, Bowler I, et al. The chest radiograph in cystic fibrosis: a new scoring system compared with the Chrispin Norman and Brasfield Scores. Thorax 1994; 49: 860-862.
14. Caplen N, Alton E, Middleton P, et al. Liposome mediated CFTR gene transfer to the nasal epithelium of patients with CF. Nat Med 1995; 1: 39-47.
15. Zabner J, Couture L, Gregory R, Graham S, Smith A, Welsh M. Adenovirus mediated gene transfer transiently corrects the chloride transport defect in nasal epithelia of patients with CF. Cell 1993; 75: 207-216.
16. Knowles M, Hohneker K, Zhou Z, et al. A controlled study of adenoviral mediated gene transfer in the nasal epithelium of patients with CF. N Engl J Med 1995; 333: 823-831.