A Cystic Fibrosis Mutation Associated with Mild Lung Disease

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Abstract
Gan et al. (July 13 issue)1 report an association between a cystic fibrosis mutation that is common in the Netherlands (A455E) and mild pulmonary disease; this mutation has also been associated with relatively mild pancreatic involvement.2 Milder disease in patients with the A455E mutation is presumably related to the residual ability of cells to secrete chloride, which has been found in rectal-biopsy specimens.3 We wonder whether, as a result of residual chloride secretion, the sweat chloride values in the compound heterozygotes with the A455E mutation were lower than those in patients with more severe disease (ΔF508 homozygotes) and whether there were some initial difficulties in confirming the diagnosis of cystic fibrosis (before the genotype analysis had been done), if the values were below the generally accepted cutoff value of 60 mmol per liter.