新生儿炎症性肠病的临床特征及基因诊断研究

目的 分析2例新生儿期起病的炎症性肠病临床特点及基因诊断结果,以提高对该病的认识和临床诊疗水平.方法 2018年至2019年,解放军总医院第七医学中心八一儿童医院共收治2例新生儿期起病的炎症性肠病患儿.对2例诊断为新生儿炎症性肠病的患儿行结肠镜检查,并行病理活检,采用直接测序法对患儿进行白细胞介素-10受体A(inte...

Research of the clinical features and gene diagnosis in neonates with inflammatory bowel disease

Objective To analyze the clinical characteristics and gene diagnosis of 2 cases of neonatal onset inflammatory bowel disease(IBD),then to improve the level of clinical diagnosis and treatment.Methods From 2018 to 2019,two newborns with IBD were diagnosed in Bayi Children's Hospital,Seventh Medical Center of PLA General Hospital.Clinical data were collected,and the clinical characteristics were summarized.Enteroscopy was performed on two newborns,and pathological biopsies were performed.Interleukin-10 receptor A(IL-10RA)gene mutations were detected by direct sequencing.Relevant literatures searched from Wanfang data,China national knowledge infrastructure(CNKI),PubMed and other databases were reviewed and analyzed.Results①Case 1 was a girl with fever,diarrhea and multiple oral ulcers after birth.C reactive protein increased repeatedly.Anti-infective treatment was ineffective.Enteroscopy was performed.Examination revealed multiple ulcerative ulcers in the colon.Analysis of the whole exon gene sequence revealed that there was a homozygous mutation in the IL-10RA gene.The anti-inflammatory treatment effect was not satisfactory,and she died after giving up the treatment.Case 2 was a boy with diarrhea and fever.Enteroscopy was performed on the 16th day of admission,and revealed multiple colonic ulcers.Pathological examination revealed moderate chronic inflammation of the colonic mucosal tissue with mild-moderate acute inflammation and local erosion.After being diagnosed as neonatal IBD,and received anti-inflammatory treatment,he improved and was discharged.②Literatures review:after being reviewed,10 literatures on neonatal IBD were retrieved from the Chinese literature database,and 4 literatures were retrieved from PubMed.Domestic literature was mainly based on case reports.Neonatal IBD was characterized by fever,diarrhea.Oral ulcers and perianal lesions were common.The positive rate of serum autoantibodies was low,and the effect of drug therapy was poor.Genetic testing showed the presence of mutations in the IL-10RA gene.Conclusions For those with unexplained diarrhea and unsatisfactory weight gain,especially those with fever and oral ulcers,they need to be highly vigilant against IBD that develops during the neonatal period.Active digestive endoscopy and genetic testing should be performed to confirm the diagnosis as soon as possible,and early standard treatment is needed.