Pancreatitis and mutations of the cystic fibrosis gene

Article Abstract:

Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene can cause other disease besides cystic fibrosis. This gene produces a channel in cell membranes that conducts chloride ions in and out of the cell. Most patients with cystic fibrosis develop pancreatic abnormalities. Two 1998 studies found that many patients with pancreatitis but not cystic fibrosis have mutations in the CFTR gene. Most of the patients were adults and had no other symptoms of cystic fibrosis. These patients could be considered to have atypical cystic fibrosis.

Editorial, Cystic fibrosis

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Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

Article Abstract:

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene may increase the risk of pancreatitis even in people who do not have cystic fibrosis. Pancreatitis is an inflammation of the pancreas. Researchers tested 134 patients with chronic pancreatitis for 22 different mutations of the CFTR gene. Thirteen percent of the patients had a CFTR mutation. The most common mutation was the deltaF508 mutation, which is also common in cystic fibrosis patients. However, none of the patients had any symptoms of cystic fibrosis.

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Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis

Article Abstract:

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene may increase the risk of pancreatitis. Pancreatitis is an inflammation of the pancreas. Researchers tested 27 people with pancreatitis of unknown cause for 18 different CFTR mutations. Ten had at least one mutation, and in three, mutations affected both copies of the gene. These three patients had abnormal chloride transport, which is one feature of cystic fibrosis. However, they had no other symptoms of cystic fibrosis.

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