Inflammatory bowel disease in neonates: report of three cases and review of the literature / 中华围产医学杂志

ABSTRACT

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.