摘要/Abstract

摘要： 病例1：男，36 d，2019年4月因“反复腹泻伴便血14 d”就诊。查体见营养不良，口腔散在溃疡，肛周红肿，有波动感。入院后行肛周引流术。结肠镜检查见全结肠多发溃疡隆起性病变，基因检测提示白介素-10受体A基因突变（c.301C>T，c.537G>A），诊断为极早发炎性肠病。家长选择姑息治疗，自动出院。随访至6月龄时患儿存活，生长发育迟缓，临床症状无好转。病例2：男，9 d，2019年11月以“发热伴咳嗽半天”就诊。患儿入院后出现反复腹泻，炎症指标进行性升高，常规抗生素治疗效果不佳。结肠镜检查提示结肠散在小溃疡，基因检测结果显示有白介素-10受体A基因复杂杂合突变（c.106G>A，c.299T>G）。患儿口服沙利度胺后肠道炎症改善，仍间断腹泻，肛周脓肿未见明显好转。随访至4月龄时拟行造血干细胞移植。
关键词: 白介素-10受体A, 极早发炎性肠病, 新生儿, 基因突变
Abstract:
In April, 2019, a 36-day-old boy having presented chronic bloody diarrhea for 14 d went to hospital. He developed oral ulcer and perianal abscess,and was taken to surgery. The colonoscopy showed severe ulcerations with granuloma in colon and superficial ulceration in ileum. Genetic analysis of the patient showed compound heterozygous mutations in interleukin-10 recepter A (IL-10RA) gene mutation (c.301C>T,c.537G>A ) and the patient was diagnosed with very early onset inflammatory bowel disease (VEO-IBD). Significant growth failure, chronic diarrhea and perianal abscess was administered when he was 6 months old. The patient 2 was a 9-day-old boy and presented fever and cough.Chronic diarrhea and perianal abscess were noted after admission, which didn't respond to broad-spectrum antibiotics. The colonoscopy showed small ulcers in the colon and histology showed chronic active inflammation with cryptitis and granuloma in the colon, consistent with Crohn's disease. IL-10RA gene (c.106G>A,c.299T>G) deficiency was confirmed by sanger sequencing. Thalidomide were used to control intestinal inflammation and hemopoietic stem cell transplantation was planned to be performed at the age of 4 months.
Key words: interleukin-10 receptor A (IL-10RA), very early onset inflammatory bowel disease (VEO-IBD), neonate, gene mutation


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