单中心儿童遗传性胰腺炎的临床特点及基因变异分析

Clinical characteristics and genetic variations of hereditary pancreatitis in children at a single center

目的探讨儿童遗传性胰腺炎(hereditary pancreatitis,HP)的临床特点及基因变异特征。方法本研究为回顾性研究,以2019年1月至2022年10月湖南省儿童医院收治的7例遗传性胰腺炎患儿为研究对象,收集患儿一般资料、临床表现、基因结果及家系分析等资料。结果7例患儿中男4例,女3例;发病年龄(7.84±3.27)岁。初次起病时,1例有进食油腻食物史,6例无明显诱因。临床表现:7例均有腹痛,以上腹部及脐周疼痛为主;恶心呕吐6例;无一例腹胀、发热、黄疸及并发症;7例发病时血淀粉酶、脂肪酶、尿淀粉酶均升高3倍以上。7例基因检测结果分别为:PRSS1基因突变1例、SPINK1+CFTR联合基因突变1例、SPINK1基因突变5例。家系分析结果显示:7例患儿直系双亲均无胰腺炎病史。7例均予常规内科保守治疗,其中1例行内镜下逆行胰胆管造影(endoscopic retrograde cholangiopancreatogram,ERCP)+胰管取石并胰管支架治疗。结论通过临床症状对儿童HP与其他类型胰腺炎鉴别较为困难,对胰腺炎相关基因进行检测有利于早期诊断;SPINK1基因突变导致儿童HP值得关注和研究。

Objective To explore the clinical characteristics and genetic variations of hereditary pancreatitis(HP)in children.Methods A retrospective analysis was conducted for general profiles,clinical manifestations,genetic results and family backgrounds of 7 HP children from January 2019 to October 2022.The relevant literature items of HP were retrieved from the database of PubMed.Results There were 4 boys and 3 girls with an onset age of(7.84±3.27)years.At an initial onset,one child once consumed greasy food while the remainders had no obvious cause.There were upper abdomen&periumbilical pains(n=7)and malignant vomiting(n=6).None of them had abdominal distension,fever,jaundice or complication.Blood amylase,lipase and urinary amylase spiked by over 3 folds.Gene mutations of PRSS1(n=1),SPINK1+CFTR(n=1)and SPINK1(n=5)were detected.The results of family lineage indicated that none of immediate parents had a history of pancreatitis.Conventional conservative measures were offered.One child underwent endoscopic retrograde cholangiopancreatogram(ERCP)plus pancreatic duct lithotomy and pancreatic duct stenting.Conclusions It is rather difficult to distinguish pediatric HP from other types of pancreatitis based upon clinical symptoms.Testing pancreatitis related genes is beneficial for making an early diagnosis.Mutated SPINK1 gene causing pediatric HP deserves further researches.