Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations

作者：Geborek A^*; Hjelte L

来源：Journal of Cystic Fibrosis, 2011, 10(3): 187-192.

DOI：10.1016/j.jcf.2011.01.005

• Cystic fibrosis
• CFTR
• Mutation class
• Lung function

Background: Despite numerous studies a clear relationship between genotype and pulmonary phenotype has not been established within the group pancreatic insufficient cystic fibrosis (CF) patients. We studied the relationship between class I and class II mutations and pulmonary function in Swedish patients with known CFTR functional classification.
Methods: 170 CF patients with two class II mutations, 18 with two class I mutations and 78 with a combination of class I and II mutations were included in the study. Spirometry was performed when patients were in an optimal clinical condition.
Results: Patients with two class I mutations had lower lung FEV(1) and FVC) compared to the group with either a combination of class I and II mutations or two class II mutations.
Conclusion: CF patients carrying two class I mutations risk developing more severe lung disease compared to patients with at least one class II mutation.

• 出版日期2011-5