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[儿童和青少年炎症性肠病:特别关注基因检测的概述]

[Inflammatory bowel diseases in children and adolescents : An overview with particular attention to genetic testing].

作者信息

Schwerd Tobias

机构信息

Dr. von Haunersches Kinderspital, Kinderklinik und Kinderpoliklinik, Ludwig-Maximilians-Universität München, Lindwurmstr. 4, 80337, München, Deutschland.

出版信息

Inn Med (Heidelb). 2025 Jan;66(1):31-39. doi: 10.1007/s00108-024-01827-8. Epub 2025 Jan 8.

Abstract

Pediatric-onset inflammatory bowel disease (PIBD) is increasingly recognized in Germany. Patients with PIBD often present with more extensive and active disease. Clinical suspicion of IBD requires early initiation of the diagnostic work-up (e.g., non-invasive fecal marker for inflammation) and referral to a pediatric gastroenterology center. In the presence of very early-onset IBD, as well as further criteria such as family history, relevant comorbidities, and extraintestinal manifestations, genetic testing for monogenic forms of IBD should be considered. The aim of treatment is to normalize quality of life and prevent bowel damage and complications, thereby enabling normal physical, social, and emotional development of the child. The selection of treatment is based on individual risk stratification, which considers disease severity and activity. PIBD patients often receive more intensified therapies, including biologics and small molecules. However, anti-tumor necrosis factor (TNF) antibodies are the only approved biologics for PIBD (above the age of 6 years). Therefore, licensed anti-TNF is a mainstay of PIBD therapy. Regular PIBD and drug monitoring should be performed according to the treat-to-target approach. Patients with PIBD and their families have special health care needs and require an interdisciplinary team of specialized medical doctors, psychologists, social workers, dieticians, and nurses. Close cooperation between the local pediatrician/family doctor and the pediatric gastroenterologist is important to achieve the long-term goals. Psychosocial consequences are important but are often underestimated.

摘要

儿童期起病的炎症性肠病(PIBD)在德国越来越受到重视。PIBD患者常表现出更广泛且活跃的疾病状态。临床怀疑患有炎症性肠病时,需要尽早开始诊断性检查(如用于炎症检测的非侵入性粪便标志物),并转诊至儿科胃肠病中心。对于极早发型炎症性肠病以及存在家族史、相关合并症和肠外表现等其他标准的情况,应考虑对单基因形式的炎症性肠病进行基因检测。治疗的目的是使生活质量正常化,预防肠道损伤和并发症,从而确保儿童正常的身体、社交和情感发育。治疗方案的选择基于个体风险分层,其中要考虑疾病的严重程度和活动度。PIBD患者通常接受更强化的治疗,包括生物制剂和小分子药物。然而,抗肿瘤坏死因子(TNF)抗体是唯一被批准用于PIBD(6岁以上)的生物制剂。因此,有许可证的抗TNF药物是PIBD治疗的主要手段。应根据达标治疗方法对PIBD和药物进行定期监测。PIBD患者及其家庭有特殊的医疗保健需求,需要一支由专科医生、心理学家、社会工作者、营养师和护士组成的跨学科团队。当地儿科医生/家庭医生与儿科胃肠病专家之间的密切合作对于实现长期目标很重要。心理社会后果很重要,但往往被低估。

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