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In a recent study on the role of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in idiopathic chronic pancreatitis (Gut 2005;54:1456–60) we sequenced the complete CFTR-coding region of 67 pancreatitis patients and 60 controls. The study demonstrated that even carrier status for mild or uncommon CFTR mutations increases the risk for developing pancreatitis. Two patients with previously unknown CFTR mutations (M348V and A1087P) were identified, and their unexpected clinical course after conclusion of the trial prompted the functional studies below.
The M348V mutation was found in a woman diagnosed with chronic pancreatitis at the age of 63. Following drainage of a pseudocyst the patient suffered from recurrent episodes of pancreatitis and later died from breast cancer. The patient with the A1087P mutation was recruited to the study as a 19 year old with idiopathic chronic pancreatitis and exocrine pancreatic insufficiency. When a later operation to correct a funnel chest did not result in a complete resolution of her expiratory flow limitation she underwent additional tests. An ambiguous sweat chloride test together with the presence of a ΔF508 mutation (inherited from her healthy mother) and the novel A1087P mutation (inherited from her healthy father) suggest that this patient suffers from a mild variety of cystic fibrosis rather than from idiopathic chronic pancreatitis, as initially thought. We therefore decided to …
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