4月龄以内起病的炎症性肠病7例临床特点及基因诊断病例系列报告

Clinical characteristics and genetic diagnosis of infantile inflammatory bowel disease within four months after birth:seven case report

目的总结4月龄内起病的炎症性肠病(IBD)的临床特点和基因诊断,引起临床医师对以不明原因腹泻起病的小婴儿IBD的重视。方法收集北京大学第一医院儿科2007至2015年收治的7例4月龄以内起病的IBD临床资料和其中5例行相关基因(IL10RA、IL10RB、IL6、NOD2、IRGM、ABCB1、ATG16L1、IL23R和IRF5)突变的检测资料。结果 7例患儿起病时间生后4 d至4月龄,均以腹泻、血便或便潜血阳性为首发症状,伴体重增长不良,肠外症状主要表现为发热、口腔溃疡和肛周病变。5例有阳性家族史。辅助检查多表现为血WBC、PLT、CRP、ESR升高,5例自身抗体阳性。肠镜特点为结肠广泛多发溃疡,病理多表现为非特异性的肠道炎症,可有隐窝炎及脓肿。5例行基因检测均发现IL10RA突变。患儿均予抗感染、更换为氨基酸配方奶或免乳糖奶喂养,加用美沙拉秦口服,部分患儿应用激素、免疫抑制剂及沙利度胺。2例死亡,5例好转。结论对以不明原因的腹泻、血便起病的小婴儿要注意IBD的可能,早期诊治,改善预后。小婴儿IBD可能存在IL10RA基因突变。

Objective To summarize the clinical characteristics and genetic diagnosis of infantile inflammatory bowel disease （ IBD）within four months after birth to make clinicians pay more attentions to this kind of disease. Methods Seven infants with IBD admitted to our hospital from 2007 to 2015 were recruited and their clinical data were reviewed and analyzed. Five of them were taken gene sequencing including ILl0RA,ILl0RB,IL6,NOD2,IRGM,ABCBl,ATGl6Ll,IL23R and IRF5. Results The onset time of our patients ranged from four days to four months after birth. Diarrhea and bloody stools were the first signs. Malnutrition, fever,oral ulcer and perianal lesions were common concomitant symptoms. 5 of them had a family history. Most of the patients had elevated WBC,PLT,CRP and ESR and some of them had positive autoimmune antibodies. Colonoscopy showed multiple ulcers affecting the colon. 5 infants who received gene sequencing were found ILl0RA mutation. All the patients received treatments including antibiotics, switching formula feeding and 5-aminosalicylic acid. Some of them were treated by steroid, immunosuppressant or thalidomide. 5 patients got better and 2 died. Conclusion Infants with diarrhea and bloody stools without any causes might cause IBD. Early diagnosis and treatment could enhance the prognosis. The gene of ILl0RA mutation might be found in the infants with IBD.