[儿童和青少年的炎症性肠病:特别关注基因检测的概述]。

Innere Medizin (Heidelberg, Germany) Pub Date : 2025-01-01 Epub Date: 2025-01-08 DOI:10.1007/s00108-024-01827-8
Tobias Schwerd
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引用次数: 0

摘要

在德国,儿科起病的炎症性肠病(PIBD)越来越得到认可。PIBD患者通常表现为更广泛和活动性的疾病。临床怀疑IBD需要尽早开始诊断检查(例如,非侵入性粪便炎症标志物),并转诊到儿科胃肠病学中心。如果存在早发性IBD,以及家族史、相关合并症和肠外表现等进一步的标准,应考虑单基因型IBD的基因检测。治疗的目的是使生活质量正常化,防止肠道损伤和并发症,从而使儿童的身体、社会和情感发育正常。治疗的选择基于个体风险分层,考虑疾病的严重程度和活动性。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,获得许可的抗tnf是PIBD治疗的主要手段。应按照从治疗到目标的方法进行定期PIBD和药物监测。PIBD患者及其家属有特殊的医疗保健需求,需要由专业医生、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/家庭医生和儿科胃肠病学家之间的密切合作对于实现长期目标非常重要。社会心理后果很重要,但往往被低估。
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[Inflammatory bowel diseases in children and adolescents : An overview with particular attention to genetic testing].

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.

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