scholarly journals Complications of enterostomy and related risk factor analysis of very early onset inflammatory bowel disease with interleukin-10 signalling deficiency: a single-centre retrospective analysis

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Zifei Tang ◽  
Zhiheng Huang ◽  
Weili Yan ◽  
Yi Zhang ◽  
Peng Shi ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Factor Analysis ◽  
Risk Factor ◽  
Retrospective Analysis ◽  
Bowel Disease ◽  
Early Onset ◽  
Interleukin 10 ◽  
Single Centre ◽  
Related Risk ◽  
Inflammatory Bowel

Clinical phenotypes and genotypic characteristics of infantile-onset inflammatory bowel disease with interleukin-10 receptor A mutations in 22 Chinese children

2020 ◽  
Author(s):  
Dexiu Guan ◽  
Jing Zhang ◽  
Shu Guo ◽  
Feihong Yu ◽  
Jin Zhou ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Mortality Rate ◽  
Bowel Disease ◽  
Early Onset ◽  
Gene Mutations ◽  
Interleukin 10 ◽  
Clinical Phenotypes ◽  
Oral Ulcers ◽  
Inflammatory Bowel ◽  
Genotypic Characteristics

Abstract Background : Infantile-onset inflammatory bowel disease (IO-IBD) patients with interleukin-10/interleukin-10 receptor (IL-10/IL-10R) mutations suffer from more severe and intractable disease. We aimed to investigate the clinical phenotypes and genotypic characteristics of IO-IBD patients with IL-10RA gene mutations. Methods : Data on 22 patients with IO-IBD with IL-10RA gene mutations were retrospectively analyzed, and high-throughput sequencing was used to identify the IL-10RA gene mutations. Results : In 22 patients with IO-IBD with IL-10RA mutations, c.C301T (p.R101W) (86.4%, 19/22) and c.G537A (p.T179T) (36.4%, 8/22) were the most common ones, and one novel mutation was identified (c.635G>C (p.R212P)). Patients had extremely early onset of symptoms, with 81.8% (18/22) having disease onset within 1 month after birth, and median onset time was 8.5 (interquartile range: 3.0–24.0) days. In addition, 77.3% (17/22) of patients had recurrent perianal lesions. Oral ulcers and skin rashes were common extra-intestinal manifestations, accounting for 72.7% (16/22) and 63.6% (14/22), respectively. In this study, three patients underwent enterostomy and one experienced intestinal perforation repair. Thalidomide was used in five patients in this study: one achieved clinical remission, three were clinical improvement and one still had disease activity. Two patients underwent umbilical cord blood transplantation (UCBT) and remained stable. Follow-up showed that the mortality rate was as high as 45% (9/20). Conclusions : In 22 IO-IBD patients with IL-10RA mutations, the most common mutations were c.C301T (p.R101W) and c.G537A (p.T179T). Patient characteristics included extremely early onset of symptoms and extra-intestinal manifestations such as recurrent perianal lesions, oral ulcers, and skin rashes, which were common. UCBT and thalidomide might be effective treatments, although the mortality rate was high in this study.

scholarly journals An Analysis and Survey on Interleukin-10 Receptor Mutation in Inflammatory Bowel Disease in Iranian IBD Cohort

2019 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Early Onset ◽  
Pcr Amplification ◽  
Interleukin 10 ◽  
Genes Encoding ◽  
Healthy Control ◽  
Inflammatory Bowel ◽  
Total Dna

Background: Early-onset inflammatory bowel disease (IBD) is classified to Crohn’s disease, ulcerative colitis and unclassified disorders which have chronic, relapsing course and can result in substantial long-term morbidity. IBD is a multifactorial disorder with genetic susceptibility, immunological predisposition and environmental triggers. Objective: To generally determine prevalence of IL10R mutation in IBD patients in Iran-Isfahan, we performed sequencing of all exons in IL10RA and IL10RB in cohort of IBD patients and healthy control. Material and Method: Total DNA content of 76 patients and 50 healthy controls were extracted from whole blood and PCR amplification and sequencing was done. Result: Overall identified IL-10RA mutations were P.(I224V), P.(A153V), P.(A153A), P.(S159G), P.(R263Q), P.(R284C), P.(R351Q), P.(Q376Q), P.(T416I), P.(A493V), P.(A511A) and P.(S563S). In IL10RB gene the only detected mutation was P. (K47E). Of them, P.(A153V), P.(A153A), P.(R284C), P.(T416I), P.(A493V), P.(A511A), P.(S563S) were Not reported variant in IBD variants. Conclusion: Our results also confirmed that early-onset IBD could be attributed to a synergistic effect of several variant alleles of the genes encoding IL10 receptors. These variants, alone, could only give rise to a sub-clinical manifestation of the IBD.

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