中国实用儿科杂志

中国实用儿科杂志 ›› 2026, Vol. 41 ›› Issue (1): 56-60.DOI: 10.19538/j.ek2026010612

• 论著 • 上一篇    下一篇

儿童遗传性胰腺炎 5 例临床特征及随访分析

  

  1. 南京医科大学附属儿童医院 消化科，江苏  南京  210008
  • 出版日期:2026-01-06 发布日期:2026-02-27
  • 通讯作者: 闫坤龙，电子信箱：kloyan@126.com
  • 基金资助:
    国家自然科学基金青年项目 [82400687]

Analysis of clinical characteristics and follow-up of hereditary pancreatitis in children

  1. Department of Gastroenterology，Children’s Hospital Affiliated to Nanjing Medical University，Nanjing  210008，China
  • Online:2026-01-06 Published:2026-02-27

摘要： 目的　分析儿童遗传性胰腺炎（HP）临床特征及随访资料，为临床个体化、多学科综合治疗提供借鉴。方法　回顾性分析2018年12月至2024年1月因反复腹痛就诊于南京市儿童医院消化科最终诊断为遗传性胰腺炎的5例HP患儿的临床资料、治疗方法及随访情况，总结HP的临床特征和基因变异特点。结果　5例均表现为反复发作性腹痛伴血淀粉酶升高，经腹部超声或磁共振成像证实存在胰腺炎影像学改变，其中1例可见胰腺结石伴假性囊肿，1例胰腺解剖异常伴结石形成。起病年龄为4~11岁，基因检测提示3例为SPINK1基因突变，2例为PRSS1基因突变。5例患儿急性发作期经抑酸、抑制胰液分泌、补液等对症支持治疗后症状可缓解，长期随访发现患儿经饮食及生活习惯调整后胰腺炎发作频率减少，存在胰腺解剖异常的HP患儿经支架置入后未见胰腺炎发作。结论　临床上对于无明显诱因和家族史阳性的复发性胰腺炎及慢性胰腺炎患儿需高度怀疑HP可能，并建议完善基因检测进一步明确诊断。对于有危险因素的患儿可通过对SPINIK1及PRSS1基因的热点突变进行检测，早期干预治疗。对HP及其并发症应进行个体化、多学科综合治疗并定期监测内分泌功能。

关键词:

Abstract: Objective　To analyze the clinical characteristics and follow-up data of hereditary pancreatitis（HP），providing reference for individualized and multidisciplinary comprehensive treatment in clinical practice. Methods　A retrospective analysis was conducted on the clinical data，treatment methods，and follow-up outcomes of 5 hereditary pancreatitis（HP） cases diagnosed at the Department of Gastroenterology，Nanjing Children’s Hospital from December 2018 to January 2024，who presented with recurrent abdominal pain. The study aimed to investigate the clinical characteristics and genetic mutation features of HP. Results　All 5 cases presented with recurrent abdominal pain accompanied by elevated amylase levels，and imaging changes consistent with pancreatitis were confirmed by abdominal ultrasound or magnetic resonance imaging. One case showed pancreatic stones with pseudocysts，while another case demonstrated pancreatic anatomical abnormalities with stone formation. The age of onset ranged from 4 to 11 years. Genetic testing revealed SPINK1 gene mutation in 3 cases and PRSS1 gene mutation in 2 cases. During acute episodes，symptoms were relieved after symptomatic and supportive treatment including acid suppression，inhibition of pancreatic secretion and fluid replacement. Long-term follow-up revealed that the frequency of pancreatitis attacks decreased after dietary and lifestyle adjustments. The HP patient with pancreatic anatomical abnormalities showed no recurrence of pancreatitis after stent placement. Conclusion　In clinical practice，children with recurrent pancreatitis and chronic pancreatitis who have no obvious cause and a positive family history should be highly suspected of HP，and genetic testing is recommended for further diagnosis. For children with risk factors，early intervention and treatment can be achieved by detecting hotspot mutations in the SPINIK1 and PRSS1 genes.Individualized，multidisciplinary comprehensive treatment and regular monitoring of endocrine function should be carried out for HP and its complications.

Key words: hereditary pancreatitis, gene mutation, child, clinical analysis