Department of Paediatric Haematology-Oncology, Robert-Debré University Hospital, AP-HP, Pairs, France.
CEREVANCE, Paediatric Haemato-Immunology, CIC1401, INSERM CICP, Bordeaux University Hospital, Bordeaux, France.
Br J Haematol. 2024 Oct;205(4):1508-1515. doi: 10.1111/bjh.19701. Epub 2024 Aug 18.
The association of autoimmune cytopenia (AIC) and inflammatory bowel disease (IBD) has been reported in small series, but the incidence of and risk factors for IBD in children with AIC are not known. One thousand six hundred nine children with chronic immune thrombocytopenic purpura, autoimmune haemolytic anaemia or Evans syndrome from the prospective OBS'CEREVANCE cohort are included in this study. Overall, 15 children were diagnosed with IBD, including 14 who developed IBD after AIC diagnosis (median delay: 21 months). The only risk factor for IBD development is age at AIC over 10 years. Out of 10 children genetically tested, germline variants associated with autoimmune disorders were identified in three (CTLA4: two, DOCK11: one). In children and adolescents monitored for AIC or past history of AIC, especially children over 10 years, gastro-intestinal (GI) symptoms (recurrent abdominal pains, GI bleeding, chronic diarrhoea, weight loss) should suggest IBD and deserve specific work-up and genetic studies. Identification of a causal germline variant will allow targeted therapy.
自身免疫性血细胞减少症（AIC）与炎症性肠病（IBD）的关联已在小系列中报道，但儿童 AIC 中 IBD 的发病率和危险因素尚不清楚。本研究纳入了前瞻性 OBS'CEREVANCE 队列中 1609 例慢性免疫性血小板减少性紫癜、自身免疫性溶血性贫血或 Evans 综合征患儿。总体而言，15 名儿童被诊断为 IBD，其中 14 名在 AIC 诊断后出现 IBD（中位延迟：21 个月）。IBD 发展的唯一危险因素是 AIC 时年龄超过 10 岁。在接受基因检测的 10 名儿童中，有 3 名（CTLA4：2 名，DOCK11：1 名）发现与自身免疫性疾病相关的种系变异。在监测 AIC 或既往 AIC 病史的儿童和青少年中，尤其是 10 岁以上的儿童，如果出现胃肠道（GI）症状（反复发作的腹痛、GI 出血、慢性腹泻、体重减轻），应怀疑为 IBD，并需要进行特定的检查和基因研究。确定致病种系变异将允许进行靶向治疗。
