摘要
目的 探讨新生儿期起病的炎症性肠病的临床特点,提高临床医师对该病的认识.方法 2007年至2013年,北京大学第一医院共诊断3例新生儿期起病的炎症性肠病患儿.收集这3例患儿的临床资料,应用直接测序法对其中1例患儿进行白细胞介素-10受体A（interleukin 10 receptor A,IL10RA）基因突变的检测.复习文献,对早发炎症性肠病的临床特点和诊治进展进行总结.结果 3例患儿于生后4～12 d起病,均表现为腹泻、黏液血便和口腔溃疡,伴低白蛋白血症,且均有家族史.2例患儿有肛周病变,1例存在肝功能损害和惊厥.辅助检查均提示外周血白细胞计数升高,抗蛋白酶3抗体阳性,其中2例患儿有C反应蛋白升高和红细胞沉降率增快,l例患儿抗核抗体和抗双链DNA抗体阳性.肠镜检查显示累及结肠到回盲部的多发溃疡.予抗感染、氨基酸配方奶喂养及5-氨基水杨酸治疗,1例患儿治愈;l例患儿加用激素和硫唑嘌呤,治疗无效死亡;1例患儿加用激素好转.好转患儿基因检测发现存在IL 0RA基因突变.突变位点c.301C＞T（p.Argl01Trp）、c.421G＞A（p.Glyl41Arg）;患儿父母为携带者,患儿为复合杂合突变.文献复习显示,新生儿炎症性肠病以发热、排便性状改变为特征,血清自身抗体检测阳性率低,药物治疗效果欠佳,多需手术治疗,可存在IL10RA基因突变. 结论 对于不明原因的新生儿腹泻病,尤其是有阳性家族史的患儿,需要警惕炎症性肠病,及早行消化内镜检查有助于明确诊断.
Objective To analyze and summarize clinical manifestations of inflammatory bowel disease （IBD） in neonates.Methods From 2007 to 2013,three neonates were diagnosed with IBD in Peking University First Hospital.Data on these three cases with neonatal IBD were analyzed.The coding region of the interleukin 10 receptor A （IL10RA） gene was detected using direct Sanger sequencing in one of the patients.The literature was reviewed.Results The three newborns were 4-12 days old,all had symptoms of diarrhca,mucosanguineous feces and oral ulcers,accompanied by hypoalbuminemia and a family history.Two of these infants had perianal lesions,and one had liver damage and scizures.All three patients had elevated white blood cells and were anti-proteinase 3 positive.Two had elevated C-reactive protein and erythrocyte sedimentation rate,and one had positive antinuclcar antibodies and double stranded DNA antibodies.Colonoscopy showed multiple ulcers affecting the ileocecum and colon.The infants received treatment including antibiotics,switching formula feeding and 5-aminosalicylic acid.After treatment,one infant was cured,one died although glucocorticoids and azathioprine were used,and the other with a IL10RA gene mutation recovered,this infant had a compound heterozygous mutation with c.301C ＞ T （p.Arg101Trp）,c.421G ＞ A （p.Gly141Arg） and whose parents were carriers.The literature review showed that fever and abnorrnal defecation were the main clinical features,and examination of serum antibodies showed a lower positive rate.The patients had a poor response to medications and most required surgery.IL10RA gene mutations were detected in some patients.Conclusions Neonates with diarrhea and a family history may have IBD and should undergo colonoscopy as early as possible.
出处
《中华围产医学杂志》
CAS
CSCD
2015年第2期94-100,共7页
Chinese Journal of Perinatal Medicine
关键词
炎性肠疾病
白细胞介素10受体α亚单位
突变
婴儿
新生
Inflammatory bowel diseases
Interleukin-10 receptor alpha subunit
Mutation
Infant,newborn
