Objective: To investigate the clinical characteristics and risk factors for mortality in children with very early-onset inflammatory bowel disease (VEO-IBD). Methods: The children with VEO-IBD was retrospectively selected from the Children's Hospital Affiliated to Zhengzhou University between January 2014 and December 2022. The children were stratified into the deceased group and the survival group based on clinical outcomes. The differences in clinical characteristics, laboratory findings, nutritional indicators, and treatment regimens were compared between the two groups. Multivariate logistic regression analysis was employed to identify risk factors associated with mortality in children with VEO-IBD. Results: A total of 67 patients were included, with 21 in the deceased group [17 males, 4 females; onset age M (Q1, Q3) 7.5 (0.5, 35.2) months] and 46 in the survival group [31 males, 15 females; onset age 19.5 (1.0, 51.5) months]. The deceased group exhibited higher incidences of single gene mutation (IL-10RA, IL-10RB, CYBB, DOCK8, BTK, TNFAIP3, ELANE, WASP) [100.0% (21/21) vs 32.5% (15/46), P<0.001], perianal disease behavior of the disease behavior [100.0% (21/21) vs 34.8% (16/46), P=0.003], severe malnutrition [85.7% (18/21) vs 32.5% (22/46), P=0.008], and growth impairment [90.5% (19/21) vs 23.9% (11/46), P=0.011] compared to the survival group. The deceased group showed elevated levels of erythrocyte sedimentation rate [(66±18) vs (31±9) mm/1 h], fecal calprotectin [(1 860±257) vs (916±274) μg/g], and interleukin (IL)-6 [(159±35) vs (103±27) ng/L] (all P<0.05). In contrast, weight-for-height Z-score (WHZ) [(-2.95±0.98) vs (-1.12±0.85) scores], weight-for-age Z-score (WAZ) [(-2.96±1.17) vs (-1.23±1.06) scores], and height-for-age Z-score (HAZ) [(-2.87±1.14) vs (-1.16±0.77) scores] in the deceased group were lower than those in the survival group (all P<0.05). Single gene mutation (IL-10RA、IL-10RB、CYBB、DOCK8、BTK、TNFAIP3、ELANE、WASP) (OR=25.753, 95%CI: 9.373-83.465), age<7.5 months (OR=33.528, 95%CI: 10.132-114.152), severe malnutrition (OR=6.534, 95%CI: 3.493-12.819), and a history of critical surgical intervention (OR=10.396, 95%CI: 7.501-20.313) were risk factors for mortality in children with VEO-IBD. Conclusions: The children with VEO-IBD who died of VEO-IBD exhibited a state of hyperinflammation. Single gene mutation (IL-10RA、IL-10RB、CYBB、DOCK8、BTK、TNFAIP3、ELANE、WASP), age<7.5 months, severe malnutrition, and a history of critical surgical intervention are risk factors for mortality in children with VEO-IBD.
目的： 探讨极早发炎症性肠病（VEO-IBD）死亡患儿的临床特征及危险因素。 方法： 回顾性选取2014年1月至2022年12月郑州大学附属儿童医院就诊的VEO-IBD患儿，根据临床结局分为死亡组和存活组。比较两组患儿的临床特征、实验室检查、营养学指标及治疗的差异，采用多因素logistic回归模型分析VEO-IBD患儿死亡的危险因素。 结果： 共纳入67例患儿，死亡组21例，男17例，女4例，发病年龄［M（Q1，Q3）］为7.5（0.5，35.2）个月；存活组46例，男31例，女15例，发病年龄19.5（1.0，51.5）个月。死亡组单基因突变（类型包括：IL-10RA、IL-10RB、CYBB、DOCK8、BTK、TNFAIP3、ELANE、WASP）［100.0%（21/21）比32.5%（15/46），P<0.001］、疾病行为表现为肛周疾病［100.0%（21/21）比34.8%（16/46），P=0.003］、重度营养不良［85.7%（18/21）比32.5%（22/46），P=0.008］、生长受限［90.5%（19/21）比23.9%（11/46），P=0.011］发生率均高于存活组。死亡组红细胞沉降率［（66±18）比（31±9）mm/1 h］、粪钙卫蛋白［（1 860±257）比（916±274）μg/g］、白细胞介素（IL）-6［（159±35）比（103±27）ng/L］均高于生存组（均P<0.05）。死亡组身高别体重（WHZ）评分［（-2.95±0.98）比（-1.12±0.85）分］、年龄别体重（WAZ）评分［（-2.96±1.17）比（-1.23±1.06）分］、年龄别身高（HAZ）评分［（-2.87±1.14）比（-1.16±0.77）分］均低于存活组（均P<0.05）。单基因突变（类型包括：IL-10RA、IL-10RB、CYBB、DOCK8、BTK、TNFAIP3、ELANE、WASP）（OR=25.753，95%CI：9.373~83.465）、年龄<7.5月（OR=33.528，95%CI：10.132~114.152）、重度营养不良（OR=6.534，95%CI：3.493~12.819）、危重症手术治疗史（OR=10.396，95%CI：7.501~20.313）是VEO-IBD患儿死亡的危险因素。 结论： VEO-IBD死亡患儿处于高炎症反应状态，单基因突变（类型包括：IL-10RA、IL-10RB、CYBB、DOCK8、BTK、TNFAIP3、ELANE、WASP）、年龄<7.5月、重度营养不良及危重症手术治疗史是VEO-IBD患儿死亡的危险因素。.