Introduction Chronic pancreatitis (CP) is of a rare occurrence in childhood. The aetiology of CP in children is varied and includes anatomic anomalies, gene mutations, metabolic disorders and others. The aim of this study was to investigate the etiological aspects of CP in children from well-defined homogenous single-centre cohort.

Methods 313 children with CP (aged: 0.6–18 years; mean 8.8; F-171, M-140) hospitalised between 1988 and 2016 were enrolled into the study. Clinical and epidemiological data were recorded and analysed. All patients were screened for gene mutations predisposing to CP. All children had preceding imaging studies, including US, CT, MRCP and/or ERCP.

Results Gene mutations were found in 194 children (61%) (PRSS1 mutation in 42 children, CFTR in 46 patients, SPINK1 in 76 children, CTRC in 78 patients, CPA1 in 2 children). Anatomic anomalies of pancreatic duct were diagnosed in 51 patients (16%) (31-pancreas divisum, 10-ansa pancreatica, 4-ABPU, 2-two main pancreatic ducts, 4-other). Toxic-metabolic risk factors were found in 41 patients (13%), with dominance of lipid disturbances (21 children). CP was associated with biliary tract diseases in 26 patients (8.3%). Autoimmune pancreatitis was diagnosed in 6 children (1.9%). History of trauma was present in 20 cases (6.4%). Idiopathic CP was diagnosed in 50 children (16%).

Conclusions 1. Gene mutations and anatomic anomalies of pancreatic duct are the most common etiologic factors of CP in children.

2. Our data demonstrate the need for genetic testing in children with CP.