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SPINK1 mutations predispose to chronic pancreatitis

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There is a high prevalence of serine protease inhibitor Kazal type 1 (SPINK1) mutations, not only in chronic idiopathic, but also alcoholic pancreatitis, with around one in eight patients affected, finds Dutch research. The findings are based on mutational analysis of 115 adult patients with alcoholic (n=72), hereditary (n=10), idiopathic (n=24) and miscellaneous origin (n=9) chronic pancreatitis.

The research team looked for two mutations in the PRSSI gene—R122H and N291— and four specific mutations in the SPINK1 gene—M1T, L14P, N34S and P55S—and compared the results with those from a group of 120 healthy adults.

The prevalence of SPINK1 mutations was 12.2% among patients with alcoholic and idiopathic pancreatitis, and seven times higher than among the comparison group. In 13 out of the 14 cases, the most common variant was the N34S mutation, but two patients carried the P55S allele, one as a compound heterozygote with N34S. Just two people in the comparison group carried the N34S mutation.

PRSS1 mutations were found in six out of 10 patients with hereditary pancreatitis and were associated with earlier disease onset than the N34S allele.

There are around 50 to 75 cases of chronic pancreatitis per 100 000 of the population, with one in two people dying from their disease 20 years after diagnosis. Alcohol misuse accounts for up to 70% of cases in the West, but the authors conclude that SPINK1 mutations are an important predisposing factor in the development of the disease.