publication . Article . 2018

Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China

Fang, You-Hong; Luo, You-You; Yu, Jin-Dan; Lou, Jin-Gan; Chen, Jie;
Open Access English
  • Published: 01 Mar 2018 Journal: World Journal of Gastroenterology, volume 24, issue 9, pages 1,035-1,045 (issn: 1007-9327, eissn: 2219-2840, Copyright policy)
  • Publisher: Baishideng Publishing Group Inc
Abstract
AIM To analyze clinical differences between monogenic and nonmonogenic very-early-onset inflammatory bowel disease (VEO-IBD) and to characterize monogenic IBD phenotypically and genotypically via genetic testing. METHODS A retrospective analysis of children aged 0 to 6 years diagnosed with VEO-IBD in a tertiary hospital in southern China from 2005 to 2017 was performed. Clinical data for VEO-IBD patients were collected, and genetic characteristics were analyzed using whole exome sequencing or target gene panel sequencing. RESULTS A total of 54 VEO-IBD patients were included in this study. A diagnosis of Crohn’s disease (CD) or CD-like intestinal manifestations a...
Subjects
mesheuropmc: digestive system diseases
free text keywords: Very-early-onset inflammatory bowel disease, IL10, Primary immunodeficiency diseases, IL10R, Clinical Practice Study, Monogenic
30 references, page 1 of 2

Muise, AM, Snapper, SB, Kugathasan, S. The age of gene discovery in very early onset inflammatory bowel disease. Gastroenterology. 2012; 143: 285-288 [PubMed]

Benchimol, EI, Fortinsky, KJ, Gozdyra, P, Van den Heuvel, M, Van Limbergen, J, Griffiths, AM. Epidemiology of pediatric inflammatory bowel disease: a systematic review of international trends. Inflamm Bowel Dis. 2011; 17: 423-439 [PubMed]

Uhlig, HH, Schwerd, T, Koletzko, S, Shah, N, Kammermeier, J, Elkadri, A, Ouahed, J, Wilson, DC, Travis, SP, Turner, D. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology. 2014; 147: 990-1007.e3 [OpenAIRE] [PubMed]

Heyman, MB, Kirschner, BS, Gold, BD, Ferry, G, Baldassano, R, Cohen, SA, Winter, HS, Fain, P, King, C, Smith, T. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr. 2005; 146: 35-40 [PubMed]

Moeeni, V, Day, AS. Impact of Inflammatory Bowel Disease upon Growth in Children and Adolescents. ISRN Pediatr. 2011; 2011: 365712 [OpenAIRE] [PubMed]

Kim, S, Koh, H. Nutritional aspect of pediatric inflammatory bowel disease: its clinical importance. Korean J Pediatr. 2015; 58: 363-368 [OpenAIRE] [PubMed]

Levine, A, Griffiths, A, Markowitz, J, Wilson, DC, Turner, D, Russell, RK, Fell, J, Ruemmele, FM, Walters, T, Sherlock, M. Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification. Inflamm Bowel Dis. 2011; 17: 1314-1321 [PubMed]

Kammermeier, J, Drury, S, James, CT, Dziubak, R, Ocaka, L, Elawad, M, Beales, P, Lench, N, Uhlig, HH, Bacchelli, C. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis. J Med Genet. 2014; 51: 748-755 [OpenAIRE] [PubMed]

Levine, A, Koletzko, S, Turner, D, Escher, JC, Cucchiara, S, de Ridder, L, Kolho, KL, Veres, G, Russell, RK, Paerregaard, A. ESPGHAN revised porto criteria for the diagnosis of inflammatory bowel disease in children and adolescents. J Pediatr Gastroenterol Nutr. 2014; 58: 795-806 [PubMed]

Mao, H, Yang, W, Lee, PP, Ho, MH, Yang, J, Zeng, S, Chong, CY, Lee, TL, Tu, W, Lau, YL. Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn’s disease. Genes Immun. 2012; 13: 437-442 [PubMed]

Yanagi, T, Mizuochi, T, Takaki, Y, Eda, K, Mitsuyama, K, Ishimura, M, Takada, H, Shouval, DS, Griffith, AE, Snapper, SB. Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report. BMC Gastroenterol. 2016; 16: 10 [OpenAIRE] [PubMed]

Engelhardt, KR, Shah, N, Faizura-Yeop, I, Kocacik Uygun, DF, Frede, N, Muise, AM, Shteyer, E, Filiz, S, Chee, R, Elawad, M. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2013; 131: 825-830 [PubMed]

Curnutte, JT, Hopkins, PJ, Kuhl, W, Beutler, E. Studying X inactivation. Lancet. 1992; 339: 749

Roos, D. The genetic basis of chronic granulomatous disease. Immunol Rev. 1994; 138: 121-157 [PubMed]

Ruel, J, Ruane, D, Mehandru, S, Gower-Rousseau, C, Colombel, JF. IBD across the age spectrum: is it the same disease?. Nat Rev Gastroenterol Hepatol. 2014; 11: 88-98 [PubMed]

30 references, page 1 of 2
Abstract
AIM To analyze clinical differences between monogenic and nonmonogenic very-early-onset inflammatory bowel disease (VEO-IBD) and to characterize monogenic IBD phenotypically and genotypically via genetic testing. METHODS A retrospective analysis of children aged 0 to 6 years diagnosed with VEO-IBD in a tertiary hospital in southern China from 2005 to 2017 was performed. Clinical data for VEO-IBD patients were collected, and genetic characteristics were analyzed using whole exome sequencing or target gene panel sequencing. RESULTS A total of 54 VEO-IBD patients were included in this study. A diagnosis of Crohn’s disease (CD) or CD-like intestinal manifestations a...
Subjects
mesheuropmc: digestive system diseases
free text keywords: Very-early-onset inflammatory bowel disease, IL10, Primary immunodeficiency diseases, IL10R, Clinical Practice Study, Monogenic
30 references, page 1 of 2

Muise, AM, Snapper, SB, Kugathasan, S. The age of gene discovery in very early onset inflammatory bowel disease. Gastroenterology. 2012; 143: 285-288 [PubMed]

Benchimol, EI, Fortinsky, KJ, Gozdyra, P, Van den Heuvel, M, Van Limbergen, J, Griffiths, AM. Epidemiology of pediatric inflammatory bowel disease: a systematic review of international trends. Inflamm Bowel Dis. 2011; 17: 423-439 [PubMed]

Uhlig, HH, Schwerd, T, Koletzko, S, Shah, N, Kammermeier, J, Elkadri, A, Ouahed, J, Wilson, DC, Travis, SP, Turner, D. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology. 2014; 147: 990-1007.e3 [OpenAIRE] [PubMed]

Heyman, MB, Kirschner, BS, Gold, BD, Ferry, G, Baldassano, R, Cohen, SA, Winter, HS, Fain, P, King, C, Smith, T. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr. 2005; 146: 35-40 [PubMed]

Moeeni, V, Day, AS. Impact of Inflammatory Bowel Disease upon Growth in Children and Adolescents. ISRN Pediatr. 2011; 2011: 365712 [OpenAIRE] [PubMed]

Kim, S, Koh, H. Nutritional aspect of pediatric inflammatory bowel disease: its clinical importance. Korean J Pediatr. 2015; 58: 363-368 [OpenAIRE] [PubMed]

Levine, A, Griffiths, A, Markowitz, J, Wilson, DC, Turner, D, Russell, RK, Fell, J, Ruemmele, FM, Walters, T, Sherlock, M. Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification. Inflamm Bowel Dis. 2011; 17: 1314-1321 [PubMed]

Kammermeier, J, Drury, S, James, CT, Dziubak, R, Ocaka, L, Elawad, M, Beales, P, Lench, N, Uhlig, HH, Bacchelli, C. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis. J Med Genet. 2014; 51: 748-755 [OpenAIRE] [PubMed]

Levine, A, Koletzko, S, Turner, D, Escher, JC, Cucchiara, S, de Ridder, L, Kolho, KL, Veres, G, Russell, RK, Paerregaard, A. ESPGHAN revised porto criteria for the diagnosis of inflammatory bowel disease in children and adolescents. J Pediatr Gastroenterol Nutr. 2014; 58: 795-806 [PubMed]

Mao, H, Yang, W, Lee, PP, Ho, MH, Yang, J, Zeng, S, Chong, CY, Lee, TL, Tu, W, Lau, YL. Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn’s disease. Genes Immun. 2012; 13: 437-442 [PubMed]

Yanagi, T, Mizuochi, T, Takaki, Y, Eda, K, Mitsuyama, K, Ishimura, M, Takada, H, Shouval, DS, Griffith, AE, Snapper, SB. Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report. BMC Gastroenterol. 2016; 16: 10 [OpenAIRE] [PubMed]

Engelhardt, KR, Shah, N, Faizura-Yeop, I, Kocacik Uygun, DF, Frede, N, Muise, AM, Shteyer, E, Filiz, S, Chee, R, Elawad, M. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2013; 131: 825-830 [PubMed]

Curnutte, JT, Hopkins, PJ, Kuhl, W, Beutler, E. Studying X inactivation. Lancet. 1992; 339: 749

Roos, D. The genetic basis of chronic granulomatous disease. Immunol Rev. 1994; 138: 121-157 [PubMed]

Ruel, J, Ruane, D, Mehandru, S, Gower-Rousseau, C, Colombel, JF. IBD across the age spectrum: is it the same disease?. Nat Rev Gastroenterol Hepatol. 2014; 11: 88-98 [PubMed]

30 references, page 1 of 2
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