Recent advance in very early onset inflammatory bowel disease

Jung Ok Shim

    Research output: Contribution to journalReview articlepeer-review

    39 Citations (Scopus)


    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.

    Original languageEnglish
    Pages (from-to)41-49
    Number of pages9
    JournalPediatric Gastroenterology, Hepatology and Nutrition
    Issue number1
    Publication statusPublished - 2019 Jan 1

    Bibliographical note

    Funding Information:
    Jung Ok Shim received the grant of National Research Foundation of Korea (Grant No. NRF-2018R1C1B5047245)

    Funding Information:
    Jung Ok Shim received the grant of National Research Foundation of Korea (Grant No. NRF-2018R1C1B5047245).

    Publisher Copyright:
    © 2019 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition.


    • Child
    • Infant
    • Mutation
    • Very early-onset inflammatory bowel disease

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health
    • Hepatology
    • Gastroenterology


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