Mutations 
CFTR gene 
* 
Insufficient 
CFTR function in 
airway epithelium 
♦ 
Figure 1.11-A. Pathogenesis of the respiratory manifestations of cystic 
fibrosis. Consequent to mutations of the CFTR gene there is insufficient 
CFTR function in airway epithelial cells. Through alterations in the 
electrolyte milieu of the airway surface and/or abnormal biologic processes 
within the airway epithelial cells consequent to the insufficient CFTR 
function, there are alterations in airway mucus, chronic bacterial infec- 
tion, and an intense, chronic neutrophil -dominated epithelial inflammation. 
Over time, the inflammation deranges the airways, causing progressive 
respiratory dysfunction and eventual failure. 
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