Abstract：Inflammatory bowel disease (IBD) is a chronic nonspecific intestinal inflammatory disease of unknown etiology. This disease includes three main types:Crohn's disease (CD), ulcerative colitis (UC), and IBD-unclassified (IBD-U). IBD is frequently presented in adults, but in recent years, there is a rising incidence in pediatric populations. Very early onset IBD (VEO-IBD) is a fraction of pediatric IBD, but they have exclusive phenotypic and genetic characteristics such that they are accompanied by severe disease course and resistance to conventional therapy. The purpose of this review is to provide a contemporary overview of the clinical features, pathogenesis, and management of VEO-IBD.
Benchimol EI, Fortinsky KJ, Gozdyra P, et al. Epidemiology of pediatric inflammatory bowel disease:a systematic review of international trends[J]. Inflamm Bowel Dis, 2011, 17(1):423-439.
[3]
Henderson P, Hansen R, Cameron FL, et al. Rising incidence of pediatric inflammatory bowel disease in Scotland[J]. Inflamm Bowel Dis, 2012, 18(6):999-1005.
[4]
Kelsen JR, Conrad MA, Simon L, et al. Using functional assays in patient-derived enteroids to understand genotype-phenotype interactions in very early onset inflammatory bowel disease (VEO-IBD)[J]. Gastroenterology, 2017, 152(5):S351.
[5]
Satsangi J, Silverberg MS, Vermeire S, et al. The Montreal classification of inflammatory bowel disease:controversies, consensus, and implications[J]. Gut, 2006, 55(6):749-753.
[6]
Levine A, Griffiths A, Markowitz J, et al. Pediatric modification of the Montreal classification for inflammatory bowel disease:the Paris classification[J]. Inflamm Bowel Dis, 2011, 17(6):1314-1321.
[7]
de Bie CI, Buderus S, Sandhu BK, et al. Diagnostic workup of paediatric patients with inflammatory bowel disease in Europe:results of a 5-year audit of the EUROKIDS registry[J]. J Pediatr Gastroenterol Nutr, 2012, 54(3):374-380.
[8]
Prenzel F, Uhlig HH. Frequency of indeterminate colitis in children and adults with IBD-a meta analysis[J]. J Crohns Colitis, 2009, 3(4):277-281.
[9]
Levine A, Koletzko S, Turner D, et al. ESPGHAN revised porto criteria for the diagnosis of inflammatory bowel disease in children and adolescents[J]. J Pediatr Gastroenterol Nutr, 2014, 58(6):795-806.
[10]
Turner D, Levine A, Escher JC, et al. Management of pediatric ulcerative colitis:joint ECCO and ESPGHAN evidence-based consensus guidelines[J]. J Pediatr Gastroenterol Nutr, 2012, 55(3):340-361.
[11]
Fiskerstrand T, Arshad N, Haukanes BI, et al. Familial diarrhea syndrome caused by an activating GUCY2C mutation[J]. N Engl J Med, 2012, 366(17):1586-1595.
[12]
Blaydon DC, Biancheri P, Di WL, et al. Inflammatory skin and bowel disease linked to ADAM17 deletion[J]. New Engl J Med, 2011, 365(16):1502-1508.
[13]
Catucci M, Castiello MC, Pala F, et al. Autoimmunity in WiskottAldrich syndrome:an unsolved enigma[J]. Front Immunol, 2012, 3(3):209.
[14]
Chen R, Giliani S, Lanzi G, et al. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias[J]. J Allergy Clin Immunol, 2013, 132(3):656-664. e17.
[15]
Samuels ME, Majewski J, Alirezaie N, et al. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia[J]. J Med Genet, 2013, 50(5):324-329.
[16]
Muise AM, Xu W, Guo CH, et al. NADPH oxidase complex and IBD candidate gene studies:identification of a rare variant in NCF2 that results in reduced binding to RAC2[J]. Gut, 2012, 61(7):1028-1035.
[17]
Visser G, Rake JP, Fernandes J, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib:results of the European Study on Glycogen Storage Disease type I[J]. J Pediatr, 2000, 137(2):187-191.
[18]
Bégin P, Patey N, Mueller P, et al. Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.[J]. J Clin Immunol, 2013, 33(3):520-525.
[19]
Glocker E, Grimbacher B. Inflammatory bowel disease:is it a primary immunodeficiency?[J]. Cell Mol Life Sci, 2012, 69(1):41-48.
[20]
Agarwal S, Smereka P, Harpaz N, et al. Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease[J]. Inflamm Bowel Dis, 2011, 17(1):251-259.
[21]
Resnick ES, Moshier EL, Godbold JH, et al. Morbidity and mortality in common variable immune deficiency over 4 decades[J]. Blood, 2012, 119(7):1650-1657.
[22]
Alangari A, Alsultan A, Adly N, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency[J]. J Allergy Clin Immun, 2012, 130(2):481-488. e2.
[23]
Lopez-Herrera G, Tampella G, Pan-Hammarström Q, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity[J]. Am J Hum Genet, 2012, 90(6):986-1001.
[24]
Burns SO, Zenner HL, Plagnol V, et al. LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia[J]. J Allergy Clin Immun, 2012, 130(6):1428-1432.
[25]
Yang X, Kanegane H, Nishida N, et al. Clinical and genetic characteristics of XIAP deficiency in Japan[J]. J Clin Immunol, 2012, 32(3):411-420.
[26]
Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis:successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease[J]. Genet Med, 2011, 13(3):255-262.
[27]
Speckmann C, EhI S. XIAP deficiency is a mendelian cause of late-onset IBD[J]. Gut, 2014, 63(6):1031-1032.
[28]
Notarangelo LD. Functional T cell immunodeficiencies (with T cells present)[J]. Annu Rev Immunol, 2013, 31:195-225.
[29]
Avitzur Y, Guo C, Mastropaolo LA, et al. Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease[J]. Gastroenterology, 2014, 146(4):1028-1039.
Aloi M, Lionetti P, Barabino A, et al. Phenotype and disease course of early-onset pediatric inflammatory bowel disease[J]. Inflamm Bowel Dis, 2014, 20(4):597-605.
Ford AC, Bernstein CN, Khan K J, et al. Glucocorticosteroid therapy in inflammatory bowel disease:systematic review and meta-analysis[J]. Am J Gastroenterol, 2011, 106(4):590-599.
[36]
Beser OF, Conde CD, Serwas NK, et al. Clinical features of interleukin 10 receptor gene mutations in children with very early-onset inflammatory bowel disease[J]. J Pediatr Gastroenterol Nutr, 2015, 60(3):332-338.
[37]
Working Group of the Japanese Society for Pediatric Gastroenterology, Hepatology and Nutrition; Konno M, Kobayashi A, Tomomasa T, et al. Guidelines for the treatment of Crohn's disease in children[J]. Pediatr Int, 2006, 48(3):349-352.
Walters TD, Griffths AM. Growth Impairment in Pediatric Inflammatory Bowel disease[M]. New York:Springer, 2008:109-126.
[41]
Leach ST, Mitchell HM, Eng WR, et al. Sustained modulation of intestinal bacteria by exclusive enteral nutrition used to treat children with Crohn's disease[J]. Aliment Pharmacol Ther, 2008, 28(6):724-733.
[42]
Altomare R, Damiano G, Abruzzo A, et al. Enteral nutrition support to treat malnutrition in inflammatory bowel disease[J]. Nutrients, 2015, 7(4):2125-2133.
[43]
Srivastava AS, Feng Z, Mishra R, et al. Embryonic stem cells ameliorate piroxicam-induced colitis in IL10-/- KO mice[J]. Biochem Biophys Res Commun, 2007, 361(4):953-959.
[44]
Cassinotti A, Annaloro C, Ardizzone S, et al. Autologous haematopoietic stem cell transplantation without CD34+ cell selection in refractory Crohn's disease[J]. Gut, 2008, 57(2):211-217.
[45]
Yanagi T, Mizuochi T, Takaki Y, et al. Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease:a case report[J]. BMC Gastroenterol, 2016, 16:10.
[46]
Shaker A, Rubin DC. Stem cells:One step closer to gut repair[J]. Nature, 2012, 485(7397):181-182.
[47]
Irhimeh MR, Cooney J. Management of inflammatory bowel disease using stem cell therapy[J]. Curr Stem Cell Res Ther, 2016, 11(1):72-77.
