以腹痛为主要表现的儿童自身炎症性疾病2例报告并文献复习

Autoinflammatory diseases in children with recurrent abdominal pain as the main manifestation:a report of two cases and literature review

目的探讨以反复腹痛为主要表现的儿童自身炎症性疾病的临床特征。方法回顾分析2例以反复腹痛为主要表现的自身炎症性疾病患儿的临床资料,并检索相关文献进行分析。结果2例患儿均表现为反复腹痛。例1,男,6岁6个月起病;曾诊断为阑尾炎,手术切除后仍反复腹痛,常规抗感染治疗效果不佳;随后诊断为慢性非特异性结肠炎、糜烂性胃炎,使用激素治疗可控制腹痛发作;后经全外显子测序发现存在TNFAIP3基因新生杂合变异,确诊为A20单倍剂量不足。例2,女,2岁9个月起病;伴外周血白细胞和C反应蛋白升高,曾在外院常规抗感染治疗5个月,效果欠佳;随后诊断为自身免疫性肠病,接受泼尼松口服后腹痛仍反复;后经全外显子基因测序发现患儿存在MEFV基因变异,确诊为家族性地中海热。共检索到涉及<18岁中国人的11篇文献,45例患者,其中A20单倍剂量不足11例,家族性地中海热34例。A20单倍剂量不足的起病中位年龄为3.3岁,家族性地中海热为5.7岁;约25%患者表现为反复腹痛,仅表现为反复腹痛者尚未见报道。结论对病程长、反复腹痛发作伴炎性细胞因子明显增高的患儿,应考虑自身炎症性疾病,进行基因检测并提供合适的治疗方案。

Objective To explore the clinical characteristics of autoinflammatory diseases(AUIDs)in children with recurrent abdominal pain.Methods The clinical data of autoinflammatory disease in 2 children with recurrent abdominal pain were retrospectively analyzed and the relevant literatures were reviewed.Results Both patients presented with recurrent abdominal pain.Case 1 was a boy with the onset age of 6.5 years.The child had been diagnosed with appendicitis and still had recurrent abdominal pain after surgical resection.Conventional anti-infection treatment was not effective.Idiopathic chronic colitis and erosive gastritis were later diagnosed,and the onset of abdominal pain could be controlled with hormone therapy.Whole-exome sequencing(WES)was applied and a new heterozygous variation of the TNFAIP3 gene was found in Case 1.Thereafter,he was diagnosed with haploinsufficiency of A20(HA20).Case 2 was a girl with the onset age of 2 years and 9 months.Her peripheral blood white blood cell count and C-reactive protein were elevated.She had received conventional antiinfection treatment in a local hospital for 5 months,but the effect was not satisfactory.The patient was subsequently diagnosed with autoimmune bowel disease,and recurrent abdominal pain occurred after oral treatment with prednisone.A heterozygous variation in the MEFV gene was found through WES,and she was diagnosed with familial Mediterranean fever(FMF).After searching in the databases,11 articles and 45 cases(11 of HA20 and 34 of FMF)were reported in China in patients younger than 18 years old.The median onset age of HA20 was 3.3 years and the median onset age of FMF was 5.7 years.About 25%patients presented with recurrent abdominal pain.Conclusions For children with long course of disease and recurrent abdominal pain accompanied by significantly increased inflammatory cytokines,autoinflammatory diseases should be considered.The gene testing and appropriate treatment should be provided.