CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE-MUTATIONS IN ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS

The etiology of allergic bronchopulmonary aspergillosis (ABPA) is not well understood. A clinical phenotype resembling the pulmonary disease seen in cystic fibrosis (CF) patients can occur in some individuals w ith ABPA. Reports of familial occurrence of ABPA and increased inciden ce in CF patients suggest a possible genetic basis for the disease. To test this possibility, the entire coding region of the cystic fibrosi s transmembrane regulator (CFTR) gene was analyzed in 11 individuals w ho met strict criteria for the diagnosis of ABPA and had normal sweat electrolytes (less than or equal to 40 mmol/liter). One patient carrie d two CF mutations (Delta F508/R347H), and five were found to carry on e CF mutation (four Delta F508; one R117H). The frequency of the Delta F508 mutation in patients with ABPA was significantly higher than in 53 Caucasian patients with chronic bronchitis (P < .0003) and the gene ral population (P < .003). These results suggest that CFTR plays an et iologic role in a subset of ABPA patients.