Genetic profile of patients with early onset inflammatory bowel disease

BackgroundCauses of early-onset inflammatory bowel disease (IBD) vary, and primary immunodeficiency diseases (PIDs) are associated with early-onset IBD as monogenic disorders.AimThis review investigates the prevalence, clinical manifestation, genetic profile, and treatment of patients with early-onset IBD in Southeast and East Asia.MethodsA systemic review of articles reporting PID patients associated with early-onset IBD in Southeast and East Asia was conducted.ResultsThe prevalence of PID associated with IBD was higher than that reported in western nations, and the frequency of patients with bloody stools as an early symptom was relatively higher in monogenic diseases. A total 13 (12.0%) of 108 patients with early-onset IBD were diagnosed as PID by exome sequencing and targeted gene panel analysis in Japan, including four patients with XIAP, three with IL10RA, and two or one patient with other gene mutations. In addition, ten patients were reported as having IL-10 receptor alpha (IL-10RA) deficiency in China and Hong Kong. Allogeneic hematopoietic stem cell transplantation was performed in patients with X-linked inhibitor of apoptosis deficiency, IL-10RA deficiency, or other PID as a curative treatment, and the preferable outcome of reduced-intensity conditioning and complete resolution of IBD symptoms and dysbiosis were achieved.ConclusionComprehensive molecular diagnosis has been widely applied to screen for patients with PID-associated IBD in Southeast and East Asia. These results contributed to the awareness of monogenic PID in early-onset IBD patients and their differences in clinical manifestations and genetic profiles compared to the patients in western counties.

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Faculty Opinions recommendation of Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718356707.793505968 ◽

2015 ◽

Author(s):

Ramsay Fuleihan ◽

Whitney Stevens

Keyword(s):

Inflammatory Bowel Disease ◽

Common Variable Immunodeficiency ◽

Bowel Disease ◽

Early Onset ◽

Inflammatory Bowel ◽

Common Variable

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Different renal manifestations associated with very early onset pediatric inflammatory bowel disease: case report and review of literature

BMC Nephrology ◽

10.1186/s12882-021-02358-2 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

A. Angeletti ◽

S. Arrigo ◽

A. Madeo ◽

M. Molteni ◽

E. Vietti ◽

...

Keyword(s):

Inflammatory Bowel Disease ◽

Interstitial Nephritis ◽

Inflammatory Bowel Diseases ◽

Bowel Disease ◽

Early Onset ◽

Renal Involvement ◽

Granulomatous Interstitial Nephritis ◽

Disease Case ◽

Bowel Diseases ◽

Inflammatory Bowel

Abstract Background Inflammatory bowel diseases are characterized by chronic inflammation of the gastrointestinal tract. In particular, Crohn disease and ulcerative colitis represent the two most common types of clinical manifestations. Extraintestinal manifestations of inflammatory bowel diseases represent a common complications, probably reflecting the systemic inflammation. Renal involvement is reported in 4–23% of cases. However, available data are limited to few case series and retrospective analysis, therefore the real impact of renal involvement is not well defined. Case presentation We report the case of a 10-years old male affected by very early onset unclassified-Inflammatory bowel diseases since he was 1-year old, presenting with a flare of inflammatory bowel diseases associated with acute kidney injury due to granulomatous interstitial nephritis. Of interest, at 7-year-old, he was treated for IgA nephropathy. To our knowledge, no previous reports have described a relapse of renal manifestation in inflammatory bowel diseases, characterized by two different clinical and histological phenotypes. Conclusions The link between the onset of kidney injuries with flares of intestinal inflammation suggest that nephritis maybe considered an extra-intestinal manifestation correlated with active inflammatory bowel disease. However, if granulomatous interstitial nephritis represents a cell-mediated hypersensitivity reaction than a true extraintestinal manifestation of inflammatory bowel diseases is still not clarified. We suggest as these renal manifestations here described may be interpreted as extraintestinal disorder and also considered as systemic signal of under treatment of the intestinal disease.

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A collaborative effort to define the epidemiology of pediatric inflammatory bowel disease: What can we learn from children with early-onset disease?

The Journal of Pediatrics ◽

10.1016/j.jpeds.2004.10.068 ◽

2005 ◽

Vol 146 (1) ◽

pp. 7-8 ◽

Cited By ~ 1

Author(s):

M. Susan Moyer

Keyword(s):

Inflammatory Bowel Disease ◽

Bowel Disease ◽

Early Onset ◽

Collaborative Effort ◽

Pediatric Inflammatory Bowel Disease ◽

Inflammatory Bowel

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Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease

Inflammatory Bowel Diseases ◽

10.1093/ibd/izab145 ◽

2021 ◽

Author(s):

Jodie Ouahed

Keyword(s):

Inflammatory Bowel Disease ◽

Bowel Disease ◽

Early Onset ◽

Current Issue ◽

Epithelial Barrier ◽

Mevalonate Kinase Deficiency ◽

Bowel Diseases ◽

Life Threatening ◽

Mucosal Homeostasis ◽

Inflammatory Bowel

Abstract Currently over 70 genes known to be causative in very early onset inflammatory bowel disease (VEOIBD) have been identified. In the current issue of Inflammatory Bowel Diseases, 2 articles describing monogenetic forms of VEOIBD are highlighted. One describes a patient with life-threatening VEOIBD and a mutation in ITGA6, illustrating the importance of the epithelial barrier in maintaining mucosal homeostasis. The other describes the presentation and management of 10 patients with VEOIBD secondary to damaging mutations in MVK, resulting in mevalonate kinase deficiency. Though most monogenic causes of VEOIBD remain “private,” understanding the different categories of pathways affected in children with VEOIBD is critical and has already resulted in invaluable insight in the management of patients with VEOIBD and may hold strong implications for the care of IBD overall.

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Very early onset inflammatory bowel disease (VEO-IBD); spectrum of clinical presentation, diagnostic tools and outcome in children

Journal of the Pakistan Medical Association ◽

10.47391/jpma.05-725 ◽

2021 ◽

Vol 71 (10) ◽

pp. 2350-2354

Author(s):

Huma Arshad Cheema ◽

Nadia Waheed ◽

Anjum Saeed ◽

Zafar Fayyaz ◽

Muhammad Nadeem Anjum ◽

...

Keyword(s):

Inflammatory Bowel Disease ◽

Bowel Disease ◽

Early Onset ◽

Clinical Presentation ◽

Association Studies ◽

Diagnostic Tools ◽

Genome Wide Association Studies ◽

Genome Wide ◽

Basic Work ◽

Inflammatory Bowel

Background: Very early-onset inflammatory bowel disease (VEO-IBD) is defined as diagnosis of Ulcerative Colitis (UC) or Crohn’s Disease (CD) in children under six years of age. Genome wide association studies have linked a strong genetic component responsible for VEO-IBD. Approximately, 30-40% children of VEO-IBD have underlying immunodeficiency states. We aimed to study the spectrum of presentation, underlying monogenetic defects and outcome in VEO-IBD. Methods: This is a prospective, observational study conducted at division of Gastroenterology, the Children's Hospital & the Institute of Child Health, Lahore, over 2 years. Children developing features of IBD under six-years of age were included. Data included demography, clinical presentation, diagnostic tools and outcome. Gastroscopy and colonoscopy were performed in all patients in addition to basic work up done for associatedimmunodeficiency states and molecular genetics. SPSS version 21 was used for analysis. Continuous...

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