| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
|
|
|
|
|||||||||||||
|
|
|||||||||||||||
CYSTIC FIBROSIS |
1 Department of Pneumology, Hospital General Vall d’Hebron, Barcelona, Spain
2 Department of Medicine, Universidad Autonoma de Barcelona, Spain
3 Medical and Molecular Genetics Center, Institud Recerca Oncològica (IRO), Hospital Duran I Reynals, Barcelona, Spain
4 Department of Pneumology, Hospital Josep Trueta, Girona, Spain
5 Department of Gastroenterology, Hospital General Vall d’Hebron, Barcelona, Spain
6 Department of Pediatrics, Hospital General Vall d’Hebron, Barcelona, Spain
7 Department of Biostatistics, Hospital General Vall d’Hebron, Barcelona, Spain
Correspondence to:
Correspondence to:
Dr J de Gracia
Roger de Flor 235 bajos 2, 08025 Barcelona, Spain; jgracia{at}separ.es
Background: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF).
Methods: A prospective cohort of adult patients with CF and two CFTR mutations followed up in an adult cystic fibrosis unit was analysed. Patients were classified according to functional effects of classes of CFTR mutations and were grouped based on the CFTR molecular position on the epithelial cell surface (I–II/I–II, I–II/III–V). Spirometric values, progression of lung disease, probability of survival, and clinical characteristics were analysed between groups.
Results: Seventy four patients were included in the study. Patients with genotype I–II/I–II had significantly lower current spirometric values (p<0.001), greater loss of pulmonary function (p<0.04), a higher proportion of end-stage lung disease (p<0.001), a higher risk of suffering from moderate to severe lung disease (odds ratio 7.12 (95% CI 1.3 to 40.5)) and a lower probability of survival than patients with genotype I–II/III, I–II/IV and I–II/V (p<0.001).
Conclusions: The presence of class I or II mutations on both chromosomes is associated with worse respiratory disease and a lower probability of survival.
Keywords: cystic fibrosis; pulmonary disease; genetics; cystic fibrosis transmembrane conductance regulator
Relevant Article
Thorax 2005 60: 525.
This article has been cited by other articles:
|
|
 |
|
  V. Kaza, M. F. Katz, S. Cumming, A. E. Frost, and Z. Safdar Correlation of Chest Radiograph Pattern With Genotype, Age, and Gender in Adult Cystic Fibrosis: A Single-Center Study Chest, August 1, 2007; 132(2): 569 - 574. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Detkova, J. de Gracia, S. Lopes-da-Silva, M. Vendrell, A. Alvarez, L. Guarner, A. Vidaller, M.-J. Rodrigo, I. Caragol, T. Espanol, et al. Common Variable Immunodeficiency: Association Between Memory B Cells and Lung Diseases Chest, June 1, 2007; 131(6): 1883 - 1889. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Figueredo, M. P. Limberis, and J. M. Wilson Prediction of Cellular Immune Responses against CFTR in Patients with Cystic Fibrosis after Gene Therapy Am. J. Respir. Cell Mol. Biol., May 1, 2007; 36(5): 529 - 533. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Vilozni, L. Bentur, O. Efrati, T. Minuskin, A. Barak, A. Szeinberg, H. Blau, E. Picard, E. Kerem, Y. Yahav, et al. Spirometry in Early Childhood in Cystic Fibrosis Patients Chest, February 1, 2007; 131(2): 356 - 361. [Abstract] [Full Text] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS | REGISTER |
