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临床基因组学在单基因炎症性肠病诊断中的应用:欧洲儿科学胃肠病学、肝病学和营养学协会波尔图儿科学 IBD 小组的立场文件。

Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition.

机构信息

Translational Gastroenterology Unit.

Department of Pediatrics.

出版信息

J Pediatr Gastroenterol Nutr. 2021 Mar 1;72(3):456-473. doi: 10.1097/MPG.0000000000003017.


DOI:10.1097/MPG.0000000000003017
PMID:33346580
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8221730/
Abstract

BACKGROUND: It is important to identify patients with monogenic IBD as management may differ from classical IBD. In this position statement we formulate recommendations for the use of genomics in evaluating potential monogenic causes of IBD across age groups. METHODS: The consensus included paediatric IBD specialists from the Paediatric IBD Porto group of the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and specialists from several monogenic IBD research consortia. We defined key topics and performed a systematic literature review to cover indications, technologies (targeted panel, exome and genome sequencing), gene panel setup, cost-effectiveness of genetic screening, and requirements for the clinical care setting. We developed recommendations that were voted upon by all authors and Porto group members (32 voting specialists). RESULTS: We recommend next-generation DNA-sequencing technologies to diagnose monogenic causes of IBD in routine clinical practice embedded in a setting of multidisciplinary patient care. Routine genetic screening is not recommended for all IBD patients. Genetic testing should be considered depending on age of IBD-onset (infantile IBD, very early-onset IBD, paediatric or young adult IBD), and further criteria, such as family history, relevant comorbidities, and extraintestinal manifestations. Genetic testing is also recommended in advance of hematopoietic stem cell transplantation. We developed a diagnostic algorithm that includes a gene panel of 75 monogenic IBD genes. Considerations are provided also for low resource countries. CONCLUSIONS: Genomic technologies should be considered an integral part of patient care to investigate patients at risk for monogenic forms of IBD.

摘要

背景:识别单基因 IBD 患者很重要,因为其管理方法可能与经典 IBD 不同。在本立场声明中,我们针对各年龄段潜在单基因 IBD 病因的基因组学评估提出了使用建议。

方法:共识包括来自欧洲儿科学胃肠病学、肝病学和营养学会(ESPGHAN)的 Porto 儿科 IBD 小组的儿科 IBD 专家和几个单基因 IBD 研究联盟的专家。我们定义了关键主题,并进行了系统的文献回顾,以涵盖适应症、技术(靶向面板、外显子组和全基因组测序)、基因面板设置、遗传筛查的成本效益以及临床护理环境的要求。我们制定了建议,所有作者和 Porto 小组的成员(32 名投票专家)进行了投票。

结果:我们建议在多学科患者护理环境中,将下一代 DNA 测序技术用于诊断 IBD 的单基因病因,作为常规临床实践的一部分。不建议对所有 IBD 患者进行常规基因筛查。应根据 IBD 发病年龄(婴儿期 IBD、极早发 IBD、儿童或青年期 IBD)以及家族史、相关合并症和肠外表现等其他标准,考虑进行基因检测。在进行造血干细胞移植之前,也建议进行基因检测。我们制定了一个诊断算法,其中包括 75 个单基因 IBD 基因的基因面板。还为资源有限的国家提供了一些考虑因素。

结论:基因组学技术应被视为患者护理的一个组成部分,以调查有单基因 IBD 风险的患者。

相似文献

[1]
Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and Nutrition.

J Pediatr Gastroenterol Nutr. 2021-3-1

[2]
Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition.

Lancet Gastroenterol Hepatol. 2023-3

[3]
Management of Paediatric Ulcerative Colitis, Part 1: Ambulatory Care-An Evidence-based Guideline From European Crohn's and Colitis Organization and European Society of Paediatric Gastroenterology, Hepatology and Nutrition.

J Pediatr Gastroenterol Nutr. 2018-8

[4]
Management of Paediatric Ulcerative Colitis, Part 2: Acute Severe Colitis-An Evidence-based Consensus Guideline From the European Crohn's and Colitis Organization and the European Society of Paediatric Gastroenterology, Hepatology and Nutrition.

J Pediatr Gastroenterol Nutr. 2018-8

[5]
[Application of the Porto criteria for the diagnosis of paediatric inflammatory bowel disease in a paediatric reference centre].

An Pediatr (Barc). 2011-10

[6]
Corona Virus Disease 2019 and Paediatric Inflammatory Bowel Diseases: Global Experience and Provisional Guidance (March 2020) from the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology, and Nutrition.

J Pediatr Gastroenterol Nutr. 2020-6

[7]
Paediatric inflammatory bowel disease: review with a focus on practice in low- to middle-income countries.

Paediatr Int Child Health. 2019-2

[8]
North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease.

J Pediatr Gastroenterol Nutr. 2020-3

[9]
Nutrition in Pediatric Inflammatory Bowel Disease: A Position Paper on Behalf of the Porto Inflammatory Bowel Disease Group of the European Society of Pediatric Gastroenterology, Hepatology and Nutrition.

J Pediatr Gastroenterol Nutr. 2018-4

[10]
A Systematic Review of Monogenic Inflammatory Bowel Disease.

Clin Gastroenterol Hepatol. 2022-4

引用本文的文献

[1]
Monogenic inflammatory bowel disease: An unfolding enigma.

World J Clin Pediatr. 2025-9-9

[2]
Clinical and Phenotypic Characteristics of Early-Onset Inflammatory Bowel Disease: A Five-Year Observational Study.

Children (Basel). 2025-7-18

[3]
Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.

Transl Pediatr. 2025-6-27

[4]
Management of paediatric ulcerative colitis, part 1: Ambulatory care-An updated evidence-based consensus guideline from the European Society of Paediatric Gastroenterology, Hepatology and Nutrition and the European Crohn's and Colitis Organisation.

J Pediatr Gastroenterol Nutr. 2025-9

[5]
Comprehensive evaluation of clinical phenotypes and pathogenic features in late-onset monogenic inflammatory bowel disease: a comparative study with infantile-onset cases.

BMC Gastroenterol. 2025-6-5

[6]
Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.

Children (Basel). 2025-4-23

[7]
MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical Implications-A Review.

Genes (Basel). 2025-4-8

[8]
Special Considerations in Pediatric Inflammatory Bowel Disease Pathology.

Diagnostics (Basel). 2025-3-25

[9]
Investigation of Some Long Noncoding RNAs (LncRNAs) in Pediatric Inflammatory Bowel Disease (IBD): An Iranian Study.

Biochem Res Int. 2025-3-29

[10]
Congenital enteropathy caused by ezrin deficiency.

Hum Genet. 2025-5

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