Clinical features and genetic analysis of very early-onset inflammatory bowel disease caused by interleukin-10 receptor A gene mutation
Li Yujia, Guan Dexiu, Guo Shu, Guo Jing, Xu Xiwei
2024, 45(1):
140-148.
doi:10. 3969/ j. issn. 1006-7795. 2024. 01. 022
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To summarize the clinical features and genetic characteristics of children with very early onset inflammatory bowel disease (VEO-IBD) caused by mutations in the interleukin 10 receptor A gene (IL10RA). Methods Retrospective analysis was conducted on the children with chronic diarrhea hospitalized in the Department of Gastroenterology Beijing Children's Hospital,Capital Medical University,from March 2007 to May 2019,who were diagnosed as very early onset inflammatory bowel disease (IBD). Among them,15 cases were diagnosed because of IL-10RA gene mutation,and 15 cases with VEO-IBD caused by non IL-10RA mutations in the control group. Clinical characteristics and gene reports were statistically analyzed. Results Children with VEO-IBD caused by IL-10RA gene mutations,11 cases of Crohn's disease (CD) and 4 cases of ulcerative colitis (UC). The clinical symptoms were mainly chronic diarrhea (15/15 cases,100.0%) and hematochezia (15/15 cases,100.0%),Extraintestinal manifestations were oral mucosal ulcers (6/15 cases,40.0%),skin erythema (5/15 cases,33.3%),and perianal manifestations were recto-perineal fistula in 5 cases (5/15,33.3%),4 cases of anal fistula (4/15,26.7%), 3 cases of anal fissure (3/15,20.0%),1 case of coexistence of recto-perineal fistula and skin tag (1/15,6.7%), and systemic manifestations of IL-10RA mutation group, malnutrition 13 cases （13/15 cases, 86.7%） perianal diseae 13 cases (13/15 cases, 86.7%). The control group had malnutrition 6 cases (6/15 cases, 40.0%) and perianal disease 5 cases (5/15 cases,33.3%).Compared with the IL-10RA mutation group， the difference was statistically significant (P<0.05). Among 15 children with IL-10RA mutations,a total of 9 mutation sites were detected,with c.301c>T (p.R101W) and c.537G>A (P.T179T) being the most common mutation sites. The IL-10RA mutation led to an increase in inflammatory factors,leading to intestinal inflammatory response. Both prothrombin time and partial thromboplastin time were significantly prolonged.Conclusion Children with very early-onset inflammatory bowel disease caused by IL-10RA gene mutations have an earlier age of onset. In addition to gastrointestinal symptoms,extraintestinal manifestations and perianal lesions are more common. The most common lesions under colonoscopy are multiple ulcers in the colon,followed by inflammatory polyps. The most prevalent mutation sites were c.301c>T (p.R101W) and c. 537G>A (P.T179T). The IL-10RA mutation led to an increase in inflammatory factors,leading to intestinal inflammatory response.
