Very early onset inflammatory bowel disease: Difference between revisions
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== Causes == |
== Causes == |
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[[Inflammatory bowel disease]]s (IBDs), such as [[Crohn's disease |
[[Inflammatory bowel disease]]s (IBDs), such as [[Crohn's disease]] (CD) or [[Ulcerative colitis|Ulcerative Colitis]] (UC), are chronic inflammatory conditions of the [[gastrointestinal tract]]. Up-to-date findings show that the pathogenesis is influenced by both environmental and genetic factors. A considerable number of [[Monogenic (genetics)|monogenic]] disorders can be found especially among patients with VEOIBD. Causal mutations can be found in genes involved in epithelial barrier formation ([[COL7A1]], [[FERMT1]]), [[Innate immune system|innate]] ([[CYBB]], [[G6PC3]]), as well as the [[specific immune response]] and immune regulation ([[IL10 (gene)|IL10]], [[Interleukin 10 receptor, alpha subunit|IL10RA]], [[FOXP3]]).<ref>{{Cite journal|last=Uhlig|first=Holm H.|date=2013-12-01|title=Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease|url=http://gut.bmj.com/content/62/12/1795|journal=Gut|volume=62|issue=12|pages=1795–1805|doi=10.1136/gutjnl-2012-303956|issn=0017-5749|pmid=24203055|s2cid=5081289 }}</ref> |
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== References == |
== References == |
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Revision as of 21:38, 29 January 2023
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| Very early onset inflammatory bowel disease | |
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| Specialty | Gastroenterology |
Very early onset inflammatory bowel disease (VEOIBD) is a type of IBD which starts in people younger than 6 years of age. According to age we can distinguish more specifically two categories within the VEOIBD diagnosis - neonatal IBD (patients younger than 1 month) and infantile IBD (patients younger than 2 years old).[1]
Signs and symptoms
VEIOBD patients present with severe form of the disease that responds poorly to conventional therapies. The symptoms often include not only gastrointestinal tract, but also other tissues, such as pituitary gland, spleen, liver, skin, respiratory tract or blood.[1]
On the other hand, other types of primary immunodeficiency can often manifest with IBD-like symptoms, too. These include the IPEX syndrome, Wiskott-Aldrich syndrome, XIAP syndrome or chronic granulomatous disease.[2]
Causes
Inflammatory bowel diseases (IBDs), such as Crohn's disease (CD) or Ulcerative Colitis (UC), are chronic inflammatory conditions of the gastrointestinal tract. Up-to-date findings show that the pathogenesis is influenced by both environmental and genetic factors. A considerable number of monogenic disorders can be found especially among patients with VEOIBD. Causal mutations can be found in genes involved in epithelial barrier formation (COL7A1, FERMT1), innate (CYBB, G6PC3), as well as the specific immune response and immune regulation (IL10, IL10RA, FOXP3).[3]
References
- ^ a b Uhlig, Holm H.; Schwerd, Tobias; Koletzko, Sibylle; Shah, Neil; Kammermeier, Jochen; Elkadri, Abdul; Ouahed, Jodie; Wilson, David C.; Travis, Simon P. (November 2014). "The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease". Gastroenterology. 147 (5): 990–1007.e3. doi:10.1053/j.gastro.2014.07.023. ISSN 0016-5085. PMC 5376484. PMID 25058236.
- ^ Kelsen, Judith; Sullivan, Kathleen (2017). Pediatric Inflammatory Bowel Disease. Springer, Cham. pp. 55–67. doi:10.1007/978-3-319-49215-5_5. ISBN 9783319492131.
- ^ Uhlig, Holm H. (2013-12-01). "Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease". Gut. 62 (12): 1795–1805. doi:10.1136/gutjnl-2012-303956. ISSN 0017-5749. PMID 24203055. S2CID 5081289.