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Spontaneous and Sporadic Trypsinogen Mutations in Idiopathic Pancreatitis
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To the Editor: Hereditary pancreatitis is an uncommon variety of pancreatitis. It generally follows an autosomal dominant inheritance and is associated with germline mutations in the cationic trypsinogen (PRSS1) gene.1 Thus, genetic testing is often recommended when 2 or more family members are diagnosed with idiopathic pancreatitis. However, the prevalence of trypsinogen mutations among patients with idiopathic pancreatitis and without a family history remains unknown.
Methods
Between 1998 and 2001, all outpatients referred to the pancreas clinic of Münster University Hospital with the diagnosis of recurrent or chronic pancreatitis of unknown etiology (N = 87) were screened for the study. We then excluded patients with known risk factors for pancreatitis, including biliary disease, hyperlipidemia, hypercalcemia, congenital malformations, or alcohol abuse. The remaining 50 patients were offered genetic research testing according to established guidelines2 and in accordance with regulations of our institutional ethics committee. After informed consent was obtained, leukocyte . . . [Full Text of this Article]
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