Abstract:

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 IL10RA, IL10RB, IL6, NOD2, IRGM, ABCB1, ATG16L1, 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 IL10RA 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 IL10RA mutation might be found in the infants with IBD.