Intest Res.  2019 Jan;17(1):9-16. 10.5217/ir.2018.00130.

Recent advance in very early-onset inflammatory bowel disease

• Shim JO

• KMID: 2438438
• DOI: http://doi.org/10.5217/ir.2018.00130

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.

Keyword

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

MeSH Terms

Child
Fistula
Humans
Infant
Inflammatory Bowel Diseases*
Interleukin-10
Phenotype
Interleukin-10

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