欢迎访问《中国循证儿科杂志》官方网站，今天是
English Version
中国循证儿科杂志

中国循证儿科杂志 ›› 2025, Vol. 20 ›› Issue (1): 36-40.DOI: 10.3969/j.issn.1673-5501.2025.01.005

• 论著 • 上一篇    下一篇

儿童遗传性胰腺炎48例临床与基因特征病例系列报告

于晓政,吴捷   

  1. 国家儿童医学中心, 首都医科大学附属北京儿童医院消化科 北京，100045
  • 收稿日期:2024-11-14 修回日期:2024-12-28 出版日期:2025-02-25 发布日期:2025-02-25
  • 通讯作者: 吴捷

Clinical and genetic characteristics of 48 cases of hereditary pancreatitis in children: A case series report

YU Xiaozheng, WU Jie#br#   

  1. Department of Gastroenterology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China
  • Received:2024-11-14 Revised:2024-12-28 Online:2025-02-25 Published:2025-02-25
  • Contact: WU Jie

PDF

139

摘要： 背景：中国地区儿童遗传性胰腺炎(HP)病例报道少。 目的：探讨儿童HP的临床特征与基因特点。 设计：病例系列报告。 方法：：参照儿童胰腺炎国际研究组织制定的相关标准诊断急性胰腺炎(AP)、慢性胰腺炎(CP)、急性复发性胰腺炎(ARP)和HP, 纳入首都医科大学附属北京儿童医院2017年6月至2023年9月住院病案首页中第一诊断为HP的病历, 从病历系统和随访记录中截取以下信息: 性别、发病年龄、诊断年龄、家族史, 临床表现、血清学、影像学、并发症、内科治疗、内镜下逆行胰胆管造影术(ERCP)治疗、短期和长期随访结局、基因突变信息。 主要结局指标：临床特征与基因特点。 结果：符合本文纳入标准的48例HP进入本文分析。男30例(62.5%), 首次发病年龄(8.0±3.8)岁，诊断年龄(8.7±3.7)岁, 发病年龄0~7岁占45.8%。首次以AP起病33例(68.8%), 46例(95.8%)经历了不同程度的腹痛, 合并营养不良23例(47.9%)。 影像学显示, 胰腺钙化21例, 胰腺肿胀15例, 胰管扩张14例, 合并胰腺分裂12例，合并胰管结石8例, 合并胰腺假性囊肿 5例(10.4%)。17例共行18次ERCP手术, 1例治疗失败（再治疗成功）, 术后3个月复发10例(58.8%), 术后1年随访复发14例 (82.4%)。48例HP均行基因检测: 丝氨酸蛋白酶抑制剂(SPINK1)基因突变33例(68.8%)、囊性纤维化跨膜调节因子(CFTR)基因突变7例(14.6%)、丝氨酸蛋白酶1(PRSS1)基因突变4例(8.3%)；突变来源于母亲23例(47.9%)、父亲17例(35.4%)、父母双方7例(14.6%), 自发突变1例(2.1%)；经蛋白结构预测致病或可能致病36例(75%)、意义未明12例(25%)。 结论：中国HP患儿SPINK1基因突变占比高，且与胰腺钙化、CP有关。

关键词: 遗传性胰腺炎, 儿童, SPINK1基因, 胰腺钙化, ERCP

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