Journal of Shanghai Jiao Tong University (Medical Science) >

2021 , Vol. 41 >Issue 3: 409 - 412

DOI: https://doi.org/10.3969/j.issn.1674-8115.2021.03.023

Case report

Study on interleukin-10 receptor A gene mutations-induced neonatal very early onset inflammatory bowel disease in 2 infants

  • Yu-jie XIE ,
  • Li-juan XIE ,
  • Tian-wen ZHU ,
  • Yi-wen WANG
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  • Department of Neonatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China

Received date: 2020-05-11

  Online published: 2021-04-06

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Abstract

In April, 2019, a 36-day-old boy having presented chronic bloody diarrhea for 14 d went to hospital. He developed oral ulcer and perianal abscess,and was taken to surgery. The colonoscopy showed severe ulcerations with granuloma in colon and superficial ulceration in ileum. Genetic analysis of the patient showed compound heterozygous mutations in interleukin-10 recepter A (IL-10RA) gene mutation (c.301C>T,c.537G>A ) and the patient was diagnosed with very early onset inflammatory bowel disease (VEO-IBD). Significant growth failure, chronic diarrhea and perianal abscess was administered when he was 6 months old. The patient 2 was a 9-day-old boy and presented fever and cough.Chronic diarrhea and perianal abscess were noted after admission, which didn't respond to broad-spectrum antibiotics. The colonoscopy showed small ulcers in the colon and histology showed chronic active inflammation with cryptitis and granuloma in the colon, consistent with Crohn's disease. IL-10RA gene (c.106G>A,c.299T>G) deficiency was confirmed by sanger sequencing. Thalidomide were used to control intestinal inflammation and hemopoietic stem cell transplantation was planned to be performed at the age of 4 months.

Key words： interleukin-10 receptor A (IL-10RA); very early onset inflammatory bowel disease (VEO-IBD); neonate; gene mutation

Cite this article

Yu-jie XIE , Li-juan XIE , Tian-wen ZHU , Yi-wen WANG . Study on interleukin-10 receptor A gene mutations-induced neonatal very early onset inflammatory bowel disease in 2 infants[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2021 , 41(3) : 409 -412 . DOI: 10.3969/j.issn.1674-8115.2021.03.023

References

1 Heyman MB, Kirschner BS, Gold BD, et al. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry[J]. J Pediatr, 2005, 146(1): 35-40.
2 Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor[J]. N Engl J Med, 2009, 361(21): 2033-2045.
3 Kelsen JR, Dawany N, Moran CJ, et al. Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease[J]. Gastroenterology, 2015, 149(6): 1415-1424.
4 Huang ZH, Peng KY, Li XQ, et al. Mutations in interleukin-10 receptor and clinical phenotypes in patients with very early onset inflammatory bowel disease: a Chinese VEO-IBD collaboration group survey[J]. Inflamm Bowel Dis, 2017, 23(4): 578-590.
5 Uhlig HH, Schwerd T, Koletzko S, et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease[J]. Gastroenterology, 2014, 147(5): 990-1007.e3.
6 Benchimol EI, Bernstein CN, Bitton A, et al. Trends in epidemiology of pediatric inflammatory bowel disease in Canada: distributed network analysis of multiple population-based provincial health administrative databases[J]. Am J Gastroenterol, 2017, 112(7): 1120-1134.
7 Shim JO, Seo JK. Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations[J]. J Hum Genet, 2014, 59(6): 337-341.
8 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.
9 Kammermeier J, Drury S, James CT, et al. Targeted gene panel sequencing in children with very early onset inflammatory bowel disease: evaluation and prospective analysis[J]. J Med Genet, 2014, 51(11): 748-755.
10 Fang YH, Luo YY, Yu JD, et al. Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China[J]. World J Gastroenterol, 2018, 24(9): 1035-1045.
11 Pigneur B, Escher J, Elawad M, et al. Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor α or β Gene A survey of the GENIUS working group[J]. Inflamm Bowel Dis, 2013, 19(13): 2820-2828.
12 Moran CJ, Walters TD, Guo CH, et al. IL-10R polymorphisms are associated with very-early-onset ulcerative colitis[J]. Inflamm Bowel Dis, 2013, 19(1): 115-123.
13 Glocker EO, Kotlarz D, Klein C, et al. IL-10 and IL-10 receptor defects in humans[J]. Ann N Y Acad Sci, 2011, 1246: 102-107.
14 Kelsen JR, Baldassano RN, Artis D, et al. Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease[J]. Cell Mol Gastroenterol Hepatol, 2015, 1(5): 462-476.
15 Kühn R, L?hler J, Rennick D, et al. Interleukin-10-deficient mice develop chronic enterocolitis[J]. Cell, 1993, 75(2): 263-274.
16 Zheng C, Huang Y, Hu W, et al. Phenotypic characterization of very early-onset inflammatory bowel disease with interleukin-10 signaling deficiency: based on a large cohort study[J]. Inflamm Bowel Dis, 2019, 25(4): 756-766.
17 许永彬, 陈玉冰, 曾萍, 等. 白细胞介素10受体突变引起新生儿期炎症性肠病的发病机制及基因诊断[J]. 中华儿科杂志, 2015, 53(5): 348-354.
18 刘黎黎, 姜毅, 侯新琳, 等. 4月龄以内起病的炎症性肠病7例临床特点及基因诊断病例系列报告[J]. 中国循证儿科杂志, 2016, 11(4): 285-289.
19 李朝晖, 康文清, 张耀东, 等. 新生儿炎症性肠病2例报告及文献复习[J]. 临床儿科杂志, 2018, 36(2): 121-125.
20 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.
21 Ruemmele FM, El Khoury MG, Talbotec C, et al. Characteristics of inflammatory bowel disease with onset during the first year of life[J]. J Pediatr Gastroenterol Nutr, 2006, 43(5): 603-609.
22 Kim KY, Lee EJ, Kim JW, et al. Higher morbidity of monogenic inflammatory bowel disease compared to the adolescent onset inflammatory bowel disease[J]. Pediatr Gastroenterol Hepatol Nutr, 2018, 21(1): 34-42.
23 Xiao Y, Wang XQ, Yu Y, et al. Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease[J]. World J Gastroenterol, 2016, 22(24): 5578.
24 Ye Z, Zhou Y, Huang Y, et al. Phenotype and management of infantile-onset inflammatory bowel disease: experience from a tertiary care center in China[J]. Inflamm Bowel Dis, 2017, 23(12): 2154-2164.
25 Kotlarz D, Beier R, Murugan D, et al. Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy[J]. Gastroenterology, 2012, 143(2): 347-355.
26 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.
27 Kelsen JR, Sullivan KE, Rabizadeh S, et al. North American society for pediatric gastroenterology, hepatology, and nutrition position paper on the evaluation and management for patients with very early-onset inflammatory bowel disease[J]. J Pediatr Gastroenterol Nutr, 2020, 70(3): 389-403.
28 Veenbergen S, van Leeuwen MA, Driessen GJ, et al. Development and function of immune cells in an adolescent patient with a deficiency in the interleukin-10 receptor[J]. J Pediatr Gastroenterol Nutr, 2017, 65(1): e5-e15.
29 王琳, 黄瑛. 沙利度胺在儿童炎症性肠病中的作用[J].临床儿科杂志, 2014, 32(10): 998-1000.
30 彭凯玥, 钱晓文, 吴冰冰, 等. 脐血干细胞移植治疗白介素10受体A基因突变导致的极早发型炎症性肠病1例病例报告并文献复习[J]. 中国循证儿科杂志, 2016, 11(3): 171-176.
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