Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis

Editor—Chronic idiopathic pancreatitis is a genetically heterogeneous disease.1-3 Mutations of the cationic trypsinogen ( CT ) gene underlie some cases of juvenile pancreatitis,3-5 and mutations of the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene have been associated with chronic pancreatitis in adults.6-8 However, these genes account for only a relatively small proportion of cases. More recently, the serine proteinase inhibitor Kazal type 1 ( SPINK1 ) gene, also called PSTI , has attracted attention as a possible cause for chronic pancreatitis.9 10 One study by Chen et al 9 did not find disease causing mutations of SPINK1 among 14 families with hereditary and 30 patients with sporadic pancreatitis, apart from two rare amino acid substitutions which were observed at a comparable frequency to the general population. By contrast, another study by Witt et al 10 reported 23 out of 68 children and adolescents with chronic pancreatitis whose disease was associated with the occurrence of SPINK1 mutations in the heterozygous or homozygous state. In particular, one founder mutation, N34S, was identified in 18/68 German patients …