Cargando…
Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists
With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the di...
Autor principal: | |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7481055/ https://www.ncbi.nlm.nih.gov/pubmed/32953636 http://dx.doi.org/10.5223/pghn.2020.23.5.411 |
_version_ | 1783580523293048832 |
---|---|
author | Arai, Katsuhiro |
author_facet | Arai, Katsuhiro |
author_sort | Arai, Katsuhiro |
collection | PubMed |
description | With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the diagnosis of IBD caused by gene mutations, also known as monogenic or Mendelian disorder-associated IBD (MD-IBD), with approximately 60 causative genes reported to date. The diagnosis of VEO-IBD requires endoscopic and histological evaluations. However, satisfactory small bowel imaging studies may not be feasible in this small population. Both genetic and immunological approaches are necessary for the diagnosis of MD-IBD, which can differ among countries according to the available resources. As a result of the use of targeted gene panels covered by the national health insurance and the nationwide research project investigating inborn errors of immunity, an efficient approach for the diagnosis of MD-IBD has been developed in Japan. Proper management of VEO-IBD by pediatric gastroenterologists constitutes a challenge. Some MD-IBDs can be curable by allogenic hematopoietic stem cell transplantation. With an understanding of the affected gene functions, targeted therapies are being developed. Social and psychological support systems for both children and their families should also be provided to improve their quality of life. Multidisciplinary team care would contribute to early diagnosis, proper therapeutic interventions, and improved quality of life in patients and their families. |
format | Online Article Text |
id | pubmed-7481055 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition |
record_format | MEDLINE/PubMed |
spelling | pubmed-74810552020-09-18 Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists Arai, Katsuhiro Pediatr Gastroenterol Hepatol Nutr Review Article With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the diagnosis of IBD caused by gene mutations, also known as monogenic or Mendelian disorder-associated IBD (MD-IBD), with approximately 60 causative genes reported to date. The diagnosis of VEO-IBD requires endoscopic and histological evaluations. However, satisfactory small bowel imaging studies may not be feasible in this small population. Both genetic and immunological approaches are necessary for the diagnosis of MD-IBD, which can differ among countries according to the available resources. As a result of the use of targeted gene panels covered by the national health insurance and the nationwide research project investigating inborn errors of immunity, an efficient approach for the diagnosis of MD-IBD has been developed in Japan. Proper management of VEO-IBD by pediatric gastroenterologists constitutes a challenge. Some MD-IBDs can be curable by allogenic hematopoietic stem cell transplantation. With an understanding of the affected gene functions, targeted therapies are being developed. Social and psychological support systems for both children and their families should also be provided to improve their quality of life. Multidisciplinary team care would contribute to early diagnosis, proper therapeutic interventions, and improved quality of life in patients and their families. The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2020-09 2020-08-27 /pmc/articles/PMC7481055/ /pubmed/32953636 http://dx.doi.org/10.5223/pghn.2020.23.5.411 Text en Copyright © 2020 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition https://creativecommons.org/licenses/by-nc/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Article Arai, Katsuhiro Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists |
title | Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists |
title_full | Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists |
title_fullStr | Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists |
title_full_unstemmed | Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists |
title_short | Very Early-Onset Inflammatory Bowel Disease: A Challenging Field for Pediatric Gastroenterologists |
title_sort | very early-onset inflammatory bowel disease: a challenging field for pediatric gastroenterologists |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7481055/ https://www.ncbi.nlm.nih.gov/pubmed/32953636 http://dx.doi.org/10.5223/pghn.2020.23.5.411 |
work_keys_str_mv | AT araikatsuhiro veryearlyonsetinflammatoryboweldiseaseachallengingfieldforpediatricgastroenterologists |