关键词: 极早发型炎症性肠病, 基因变异, 预后, 儿童

Abstract:

Objective To explore and analyze the clinical characteristics, genetic diagnosis results, treatment, and prognosis of children with very early onset inflammatory bowel disease (VEO-IBD) in China. Methods A retrospective analysis was conducted on the clinical data of VEO-IBD patients admitted and confirmed from January 2017 to October 2022. Results There were 11 children with VEO-IBD, including 6 males and 5 females; Among them, there were 8 cases of Krohn's disease, 1 case of ulcerative colitis, and 2 cases of undifferentiated inflammatory bowel disease. The median age of onset was16(6-29) months. The main clinical symptoms were diarrhea (63.6%), bloody stools (100%), and abdominal pain (45.5%). Five patients had perianal lesions, and two had intestinal stenosis. Among the 6 VEO-IBD patients who completed gene testing, 2 had genetic mutations, specifically mutations in the NOD2 and IL10RA genes. Conclusions The clinical manifestations of VEO-IBD are mainly diarrhea, abdominal pain, and bloody stool, which are easy to be associated with perianal diseases and have poor treatment prognosis especially for children with single gene variation. Single gene mutation detection should be carried out in children with VEO-IBD, and individual treatment measures should be implemented at anearly stage.

Key words: very early-onset inflammatory bowel disease, gene mutation, prognosis, child