Abstract: Background：There are few reported cases of hereditary pancreatitis (HP) in children in China. Objective：To summarize the clinical characteristics and genetic variations of HP in children. Design：Case series report. Methods：Acute pancreatitis (AP), chronic pancreatitis (CP), acute recurrent pancreatitis (ARP), and HP were diagnosed based on the relevant criteria established by the International Study Group of Pediatric Pancreatitis. Medical records were included for patients whose primary diagnosis was HP in the inpatient medical records of Beijing Children's Hospital, Capital Medical University, from June 2017 to September 2023. The following information was extracted from medical records and follow-up records: sex, age at onset, age at diagnosis, family history, clinical manifestations, serological findings, imaging findings, complications, medical treatment, endoscopic retrograde cholangiopancreatography (ERCP) treatment, short-term and long-term follow-up outcomes, and genetic mutation information. Main outcome measures：Clinical characteristics and genetic features. Results：A total of 48 patients with HP meeting the inclusion criteria were analyzed. Among them, 30(62.5%) were male, with a mean age of onset at (8.0±3.8) years and a mean age at diagnosis of (8.7±3.7) years. The onset age was between 0 and 7 years in 45.8% of cases. AP was the initial presentation in 33 patients (68.8%), while 46 patients (95.8%) experienced varying degrees of abdominal pain. Malnutrition was observed in 23 cases (47.9%). Imaging findings revealed pancreatic calcifications in 21 patients, pancreatic swelling in 15, pancreatic duct dilatation in 14, pancreatic divisum in 12, pancreatic duct stones in 8, and pancreatic pseudocysts in 5 cases (10.4%). A total of 17 patients underwent 18 ERCP procedures, with one initial treatment failure that was successfully treated upon reattempt. Postoperatively, 10 patients (58.8%) experienced recurrence within three months, and 14 patients (82.4%) had recurrence within one year of follow-up. All 48 HP patients underwent genetic testing. Mutations were identified in SPINK1 (33 cases, 68.8%), CFTR (7 cases, 14.6%), and PRSS1 (4 cases, 8.3%). The mutations were inherited from the mother in 23 cases (47.9%), from the father in 17 cases (35.4%), from both parents in 7 cases (14.6%), and were de novo in 1 case (2.1%). Protein structure prediction indicated that 36 cases (75%) had pathogenic or likely pathogenic variants, while 12 cases (25%) had variants of uncertain significance. Conclusion：In Chinese children with hereditary pancreatitis (HP), SPINK1 gene mutations account for a high proportion of cases and are associated with pancreatic calcifications and chronic pancreatitis. ERCP treatment plays a protective role in reducing long-term recurrence rates.

Key words: Hereditary pancreatitis, Children, SPINK1 gene, Pancreatic calcification, ERCP