Recent advance in very early-onset inflammatory bowel disease
- Authors
- Shim J.O.
- Issue Date
- Jan-2019
- Publisher
- Korean Association for the Study of Intestinal Diseases
- Keywords
- Child; Infant; Mutation; Very early-onset inflammatory bowel disease
- Citation
- Intestinal Research, v.17, no.1, pp 9 - 16
- Pages
- 8
- Indexed
- SCOPUS
ESCI
KCI
- Journal Title
- Intestinal Research
- Volume
- 17
- Number
- 1
- Start Page
- 9
- End Page
- 16
- URI
- https://scholarworks.korea.ac.kr/kumedicine/handle/2020.sw.kumedicine/28941
- DOI
- 10.5217/ir.2018.00130
- ISSN
- 1598-9100
2288-1956
- Abstract
- 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. Neonatal or infantile-onset IBD develops in less than 1% of pediatric patients. Children with infantile-onset IBD have high rates of affected first-degree relatives and severe disease course. 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. © 2019, Korean Association for the Study of Intestinal Diseases. All rights reserved.
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Collections - 2. Clinical Science > Department of Pediatrics > 1. Journal Articles
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