{"title":"[儿童和青少年的炎症性肠病:特别关注基因检测的概述]。","authors":"Tobias Schwerd","doi":"10.1007/s00108-024-01827-8","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":73385,"journal":{"name":"Innere Medizin (Heidelberg, Germany)","volume":" ","pages":"31-39"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Inflammatory bowel diseases in children and adolescents : An overview with particular attention to genetic testing].\",\"authors\":\"Tobias Schwerd\",\"doi\":\"10.1007/s00108-024-01827-8\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":73385,\"journal\":{\"name\":\"Innere Medizin (Heidelberg, Germany)\",\"volume\":\" \",\"pages\":\"31-39\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Innere Medizin (Heidelberg, Germany)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s00108-024-01827-8\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/8 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Innere Medizin (Heidelberg, Germany)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s00108-024-01827-8","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/8 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
[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.