title: Association between genotype and pulmonary phenotype in cystic fibrosis patients with severe mutations.
abstract: 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.
  
  
  CONCLUSIONS
  CF patients carrying two class I mutations risk developing more severe lung disease compared to patients with at least one class II mutation.
authors.affiliation: Stockholm CF Centre, Karolinska University Hospital Huddinge, Department of Clinical Science, Intervention & Technology, Karolinska Institutet, Sweden. anne.geborek@sodersjukhuset.se
authors.forename: A
authors.initials: A
authors.lastname: Geborek
authors.forename: L
authors.initials: L
authors.lastname: Hjelte
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003430:Cross-Sectional Studies; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D010188:Exocrine Pancreatic Insufficiency / Q000209:etiology*; D005260:Female; D005541:Forced Expiratory Volume; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008168:Lung / Q000503:physiopathology*; D008297:Male; D009154:Mutation; D010641:Phenotype; D012720:Severity of Illness Index; D014797:Vital Capacity; D055815:Young Adult
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator