Chronic pancreatitis and mutations of the cystic fibrosis gene

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Abstract
The CF gene codes for a cyclic adenosine monophosphate (cAMP) mediated Cl− channel which has been identified in several epithelia including lung, biliary tract, pancreas, and vas deferens.1 This wide distribution accounts for the multi-organ involvement seen in cystic fibrosis. Channel function is mutation specific with five basic classes of mutation recognised (fig1).2 Mutations that produce no CFTR protein (class I), where CFTR protein fails to reach the apical membrane because of defective processing (class II), or production of protein that fails to respond to cAMP (class III), have <1% channel function and display a severe phenotype with pancreatic insufficiency. Mutations that produce a cAMP responsive channel with reduced conductance (class IV) or mutations that cause reduced synthesis or partially defective processing of normal CFTR (class V) cause mild disease, pancreatic sufficiency and often lower sweat electrolyte concentrations.
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