儿童Ⅴ型高脂血症胰腺炎1例  

A case of Ⅴ-type hyperlipidemia pancreatitis in children

作　　者：韩齐 李涛[1] 周峻 周建峰 王春莉 刘志峰[3] 吴鹏[1] 潘思蕊 Han Qi;Li Tao;Zhou Jun;Zhou Jianfeng;Wang Chunli;Liu Zhifeng;Wu Peng;Pan Sirui(Department of General Surgery,Children′s Hospital Affiliated to Nanjing Medical University,Nanjing 210000,China;Department of Laboratory,Children′s Hospital Affiliated to Nanjing Medical University,Nanjing 210000,China;Department of Gastroenterology,Children′s Hospital Affiliated to Nanjing Medical University,Nanjing 210000,China)

机构地区：[1]南京医科大学附属儿童医院普外科,210000 [2]南京医科大学附属儿童医院重点实验室,210000 [3]南京医科大学附属儿童医院消化科,210000

出　　处：《中华实用儿科临床杂志》2021年第10期779-781,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：南京市卫计委重点项目(ZKX17038);南京医科大学科技发展项目(NMUB2019184)。

摘　　要：儿童高脂血症胰腺炎多为遗传代谢病,儿童急性胰腺炎的发病率仅为(3~13)/10万,高脂血症引起的胰腺炎占急性胰腺炎的9%。南京医科大学附属儿童医院2019年7月收治1例V型儿童高脂血症胰腺炎患儿,通过基因测序查出患儿CFTR基因c.2770G>A位点错义突变(编码区第2770号核苷酸由鸟嘌呤变异为腺嘌呤)导致氨基酸改变p.D924N。有关CFTR基因突变造成遗传性胰腺炎的报道极为罕见,且c.2770G>A位点目前尚未见文献报道。现对此病例进行报道,希望为儿科医师提供借鉴与启示。Hyperlipidemia pancreatitis in children is mostly genetic metabolic disease.The incidence of acute pancreatitis in children is only(3-13)/100000,and pancreatitis caused by hyperlipidemia accounts for 9%of acute pancreatitis.A child suffering from V-type hyperlipidemia pancreatitis was admitted to the Children′s Hospital Affiliated to Nanjing Medical University in July 2019.The missense mutation at position c.2770G>A of CFTR gene(nucleotide 2770 in coding region changed from guanine to adenine)in children was detected by gene sequencing,thus resulting in amino acid change p.D924N.It is extremely rare to report that CFTR gene mutation causes hereditary pancreatitis,and there is no literature report on c.2770G>A site.This case is reported as follows,hoping to provide reference and inspiration for pediatricians.

关 键 词：儿童 高脂血症胰腺炎 CFTR基因 诊断 

分 类 号：R725.7[医药卫生—儿科]