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Published on: April 11, 2018
Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations
1Stockholm CF Centre, Karolinska University Hospital Huddinge, Department of Clinical Science, Intervention & Technology, Karolinska Institutet, Sweden. anne.geborek@sodersjukhuset.se
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 function (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.
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