Expanding Contributions of Monogenic Very Early Onset Inflammatory Bowel Disease

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.

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

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.

scholarly journals Gastrointestinalis manifesztációk monogénes primer immundefektusokban

2018 ◽  
Vol 159 (49) ◽  
pp. 2050-2056
Author(s):  
Gábor Veres ◽  
Zsuzsanna Gaál
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Early Onset ◽  
Genetic Alterations ◽  
Epigenetic Alterations ◽  
Adequate Treatment ◽  
Next Generation Sequencing Technology ◽  
Bowel Diseases ◽  
Continuous Interaction ◽  
Inflammatory Bowel

Abstract: Although very early onset inflammatory bowel disease that develops in early childhood (before the age of 6 years) has a different etiology from Crohn’s disease and ulcerative colitis, it is also characterized by chronic inflammation of the gastrointestinal tract. Basically, very early onset inflammatory bowel disease should be considered as an immunodeficiency with monogenic origin where both gastrointestinal manifestations and symptoms of immunodeficiencies may develop in variable combinations. However, in the future, the evaluation of genetic alterations in the background of the disease will probably be performed by next-generation sequencing technology; one should also consider that the sequence of the DNA stands in continuous interaction with a wide variety of environmental effects, among which nutrition should be emphasized by all means. Epigenetic alterations that are induced by environmental factors, could contribute to the pathogenesis of inflammatory bowel diseases that develop during childhood, therefore, they should also be identified during further research. It has a key significance to establish the diagnosis of very early onset inflammatory bowel disease as early as possible, because this could give the opportunity to start the adequate treatment which is bone marrow transplantation in the case of monogenic immunodeficiencies. Orv Hetil. 2018; 159(49): 2050–2056.

scholarly journals Mevalonate kinase deficiency: an early onset inflammatory bowel disease?

2015 ◽  
Vol 13 (Suppl 1) ◽  
pp. O56
Author(s):  
A Martins ◽  
D Berrebi ◽  
L De Lumley ◽  
B Petit ◽  
B Pellegrino ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Early Onset ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Inflammatory Bowel

Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory Bowel Disease

2021 ◽  
Author(s):  
Brigitte Bader-Meunier ◽  
Andreia Luís Martins ◽  
Fabienne Charbit-Henrion ◽  
Ulrich Meinzer ◽  
Alexandre Belot ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Early Onset ◽  
Interleukin 1 ◽  
Mevalonate Kinase Deficiency ◽  
Mevalonate Kinase ◽  
Peritoneal Adhesions ◽  
History Of ◽  
Inflammatory Bowel ◽  
Chronic Fever

Abstract Mevalonate kinase deficiency should be considered in patients with severe very-early-onset inflammatory bowel disease (IBD), especially in patients with a history of recurrent or chronic fever, peritoneal adhesions, and atypical IBD pathology. Anti-interleukin-1 therapy may be efficacious in these patients with monogenic very-early-onset IBD.

Localization and Activity of Inflammatory Bowel Disease Using 111ln Leukocyte Imaging

1988 ◽  
Vol 27 (03) ◽  
pp. 83-86 ◽  
Author(s):  
B. Briele ◽  
F. Wolf ◽  
H. J. Biersack ◽  
F. F. Knapp ◽  
A. Hotze
Keyword(s):  
Inflammatory Bowel Disease ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Disease Activity ◽  
Bowel Disease ◽  
Cell Uptake ◽  
Disease Extent ◽  
Bowel Diseases ◽  
Inflammatory Bowel ◽  
Leukocyte Imaging

A prospective study was initiated to compare the clinically proven results concerning localization/extent and activity of inflammatory bowel diseases with those of 111ln-oxine leukocyte imaging. All patients studied were completely examined with barium enema x-ray, clinical and laboratory investigations, and endoscopy with histopathology. A total of 31 leukocyte scans were performed in 15 patients (12 with Crohn’s disease, 3 with ulcerative colitis). The scans were graded by comparing the cell uptake of a lesion (when present) and a bone marrow area providing a count ratio (CR). The inflammatory lesions were correctly localized on 26 leukocyte scans, and in 21 scans the scintigraphically estimated extent of disease was identical to endoscopy. In 5 cases the disease extent was underestimated, 4 scans in patients with relapse of Crohn’s disease were falsely negative, and in one patient with remission truly negative. The scintigraphically assessed disease activity was also in a good agreement with clinical disease activity based on histopathology in all cases. We conclude that leukocyte imaging provides valuable information about localization and activity of inflammatory bowel disease.

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

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...

scholarly journals Distinct Histopathological Features at Diagnosis of Very Early Onset Inflammatory Bowel Disease

2018 ◽  
Vol 13 (5) ◽  
pp. 615-625 ◽  
Author(s):  
Máire A Conrad ◽  
Chrystalle Katte Carreon ◽  
Noor Dawany ◽  
Pierre Russo ◽  
Judith R Kelsen
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Early Onset ◽  
Histopathological Features ◽  
Inflammatory Bowel
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