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Recent Advance in Very Early Onset Inflammatory Bowel Disease
Recent studies on pediatric inflammatory bowel disease (IBD) have revealed that early-onset IBD has distinct phenotypic differences compared with adult-onset IBD. In particular, very early-onset IBD (VEO-IBD) differs in many aspects, including the disease type, location of the lesions, disease behav...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition
2019
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333591/ https://www.ncbi.nlm.nih.gov/pubmed/30671372 http://dx.doi.org/10.5223/pghn.2019.22.1.41 |
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author | Shim, Jung Ok |
author_facet | Shim, Jung Ok |
author_sort | Shim, Jung Ok |
collection | PubMed |
description | Recent studies on pediatric inflammatory bowel disease (IBD) have revealed that early-onset IBD has distinct phenotypic differences compared with adult-onset IBD. In particular, very early-onset IBD (VEO-IBD) differs in many aspects, including the disease type, location of the lesions, disease behavior, and genetically attributable risks. Several genetic defects that disturb intestinal epithelial barrier function or affect immune function have been noted in these patients from the young age groups. In incidence of pediatric IBD in Korea has been increasing since the early 2000s. Neonatal or infantile-onset IBD develops in less than 1% of pediatric patients. Children with “neonatal IBD” or “infantile-onset IBD” have higher rates of affected first-degree relatives, severe disease course, and a high rate of resistance to immunosuppressive treatment. The suspicion of a monogenic cause of VEO-IBD was first confirmed by the discovery of mutations in the genes encoding the interleukin 10 (IL-10) receptors that cause impaired IL-10 signaling. Patients with such mutations typically presented with perianal fistulae, shows a poor response to medical management, and require early surgical interventions in the first year of life. To date, 60 monogenic defects have been identified in children with IBD-like phenotypes. The majority of monogenic defects presents before 6 years of age, and many present before 1 year of age. Next generation sequencing could become an important diagnostic tool in children with suspected genetic defects especially in children with VEO-IBD with severe disease phenotypes. VEO-IBD is a phenotypically and genetically distinct disease entity from adult-onset or older pediatric IBD. |
format | Online Article Text |
id | pubmed-6333591 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition |
record_format | MEDLINE/PubMed |
spelling | pubmed-63335912019-01-22 Recent Advance in Very Early Onset Inflammatory Bowel Disease Shim, Jung Ok Pediatr Gastroenterol Hepatol Nutr Review Article Recent studies on pediatric inflammatory bowel disease (IBD) have revealed that early-onset IBD has distinct phenotypic differences compared with adult-onset IBD. In particular, very early-onset IBD (VEO-IBD) differs in many aspects, including the disease type, location of the lesions, disease behavior, and genetically attributable risks. Several genetic defects that disturb intestinal epithelial barrier function or affect immune function have been noted in these patients from the young age groups. In incidence of pediatric IBD in Korea has been increasing since the early 2000s. Neonatal or infantile-onset IBD develops in less than 1% of pediatric patients. Children with “neonatal IBD” or “infantile-onset IBD” have higher rates of affected first-degree relatives, severe disease course, and a high rate of resistance to immunosuppressive treatment. The suspicion of a monogenic cause of VEO-IBD was first confirmed by the discovery of mutations in the genes encoding the interleukin 10 (IL-10) receptors that cause impaired IL-10 signaling. Patients with such mutations typically presented with perianal fistulae, shows a poor response to medical management, and require early surgical interventions in the first year of life. To date, 60 monogenic defects have been identified in children with IBD-like phenotypes. The majority of monogenic defects presents before 6 years of age, and many present before 1 year of age. Next generation sequencing could become an important diagnostic tool in children with suspected genetic defects especially in children with VEO-IBD with severe disease phenotypes. VEO-IBD is a phenotypically and genetically distinct disease entity from adult-onset or older pediatric IBD. The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2019-01 2019-01-10 /pmc/articles/PMC6333591/ /pubmed/30671372 http://dx.doi.org/10.5223/pghn.2019.22.1.41 Text en Copyright © 2019 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition http://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 (http://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 Shim, Jung Ok Recent Advance in Very Early Onset Inflammatory Bowel Disease |
title | Recent Advance in Very Early Onset Inflammatory Bowel Disease |
title_full | Recent Advance in Very Early Onset Inflammatory Bowel Disease |
title_fullStr | Recent Advance in Very Early Onset Inflammatory Bowel Disease |
title_full_unstemmed | Recent Advance in Very Early Onset Inflammatory Bowel Disease |
title_short | Recent Advance in Very Early Onset Inflammatory Bowel Disease |
title_sort | recent advance in very early onset inflammatory bowel disease |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333591/ https://www.ncbi.nlm.nih.gov/pubmed/30671372 http://dx.doi.org/10.5223/pghn.2019.22.1.41 |
work_keys_str_mv | AT shimjungok recentadvanceinveryearlyonsetinflammatoryboweldisease |