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. 2021 Oct 26:9:742830.
doi: 10.3389/fped.2021.742830. eCollection 2021.

The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review

Simona Gatti  1 , Giulia Gelzoni  1 , Giulia N Catassi  2 , Carlo Catassi  1
Affiliations

"VSports" The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review

Simona Gatti et al. Front Pediatr. .

"VSports在线直播" Abstract

Background and Aims: Inflammatory bowel disease (IBD) is a typical polygenic disorder and less frequently shows a monogenic origin. Furthermore, IBD can originate in the context of specific genetic syndromes associated with a risk of autoimmune disorders. We aimed to systematically evaluate the prevalence of IBD in specific genetic syndromes and to review the clinical characteristics of the published cases. Methods: According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, studies describing patients with IBD and a genetic syndrome and/or studies indicating the prevalence or incidence of IBD in subjects with a genetic syndrome were included. Results: Forty-six studies describing a total of 67 cases of IBD in six genetic syndromes and two personally assessed unpublished cases were included in the review. The majority of cases were associated with Turner syndrome (TS) (38 cases), Down syndrome (DS) (18 cases) and neurofibromatosis type 1 (NF1) (8 cases). Sporadic cases were described in DiGeorge syndrome (2), Kabuki syndrome (2), and Williams syndrome (1). The prevalence of IBD ranged from 0. 67 to 4% in TS and from 0. 2 to 1. 57% in DS. The incidence of IBD was increased in TS and DS compared to the general population VSports手机版. Eight cases of IBD in TS had a severe/lethal course, many of which described before the year 2000. Two IBD cases in DS were particularly severe. Conclusion: Evidence of a greater prevalence of IBD is accumulating in TS, DS, and NF1. Management of IBD in patients with these genetic conditions should consider the presence of comorbidities and possible drug toxicities. Systematic Review Registration: PROSPERO, identifier: CRD42021249820. .

Keywords: Crohn disease; DiGeorge syndrome; Down syndrome; Turner syndrome; genetic syndromes; inflammatory bowel disease; neurofibromatosis; ulcerative colitis. V体育安卓版.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Peculiarities of inflammatory bowel disease (IBD) diagnosis and course in the context of a genetic syndrome.
Figure 2
Figure 2
Algorithm of inclusion. TS, Turner's syndrome; DS, Down syndrome; NF, neurofibromatosis; DGS, DiGeorge syndrome; KS, Kabuki syndrome; WS, Williams syndrome.
See this image and copyright information in PMC

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