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Carboxypeptidase A1 gene mutations in chronic pancreatitis

The molecular genetic diagnostic approach to suspected chronic pancreatitis with early onset (<25 years) and with no indication of the known risk factors (e.g. alcohol abuse, hyperlipidemia) has been extended by a recent study. In addition to the established molecular biological analyzes of the genes for cationic trypsinogen (PRSS1), serine protease inhibitor of the Kazal type 1 (SPINK1) and cystic fibrosis transmembrane conductance regulator, it has been shown that mutations in the carboxypeptidase 1A gene (CPA1) are found in younger patients with idiopathic chronic pancreatitis, fitting with a pathogenetic concept. Hereditary chronic pancreatitis is increasingly understood to be an oligogenetisch disease. In this sense, analysis of the genes PRSS1, SPINK1, CFTR and CPA1 may be made available either as individual analyses or as a diagnostic step program for children and young adults with chronic pancreatitis of unknown origin.

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