Consanguinity and Inflammatory Bowel Diseases

Mouzan, Mohammad El; Al-Mofarreh, Mohammad A; Assiri, Asaad; Hamid, Yassin; Saeed, Anjum

doi:10.1097/mpg.0b013e31826d9987

Cited by 16 publications

(15 citation statements)

References 29 publications

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“…These fi ndings were lower than those of the previous studies. [4,5,20,21] Most of our patients had classic symptoms of IBD such as abdominal pain, diarrhea and rectal bleeding on admission, which were similar to those reported previously. Bloody diarrhea was more common in patients with UC than in those with CD.…”

Section: Discussionsupporting

confidence: 83%

Inflammatory bowel disease in Turkish children

Çakır¹,

Ünal²,

Dinler

et al. 2015

World J Pediatr

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Section: Discussionsupporting

confidence: 83%

Inflammatory bowel disease in Turkish children

Çakır¹,

Ünal²,

Dinler

et al. 2015

World J Pediatr

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“…Such a high prevalence could be related to the high consanguinity rate (up to 60%) in the Saudi community, which might confer genetic susceptibility to early development of IBD. 19 The relation between consanguinity and IBD has been questioned in a local study by El-mouzan et al, 20 who did not find significant association between consanguinity and IBD in 138 pediatric patients. In addition to the relatively small sample size, another limiting factor was that the authors did not perform a subgroup analysis based on the age of onset to evaluate differences in consanguinity rate.…”

Section: Discussionmentioning

confidence: 99%

Clinical Pattern of Early-Onset Inflammatory Bowel Disease in Saudi Arabia

Al–Hussaini

Mouzan

Hasosah

et al. 2016

Inflammatory Bowel Diseases

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“…This was in contrast to patients born in North America and Europe, where they were born to consanguineous parents and had homozygous mutations. The high rate of consanguinity in the Arabic population resulted in a high incidence of IL-10R homozygous mutations that were associated with a high prevalence of IO-IBD [17]. Thus, the genetic architecture of East Asian patients may be different compared with those from other regions of the world.…”

Section: Discussionmentioning

confidence: 99%

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

Guan

Zhang

Guo

et al. 2020

Preprint

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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.

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Consanguinity and Inflammatory Bowel Diseases

Cited by 16 publications

References 29 publications

Inflammatory bowel disease in Turkish children

Inflammatory bowel disease in Turkish children

Clinical Pattern of Early-Onset Inflammatory Bowel Disease in Saudi Arabia

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

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