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).
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
The respiratory tract is the subdivision of the respiratory system involved with the process of respiration in mammals. The respiratory tract is lined with respiratory epithelium as respiratory mucosa.
Air is breathed in through the nose to th ...
or
blood.
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.
Causes
Inflammatory bowel disease
Inflammatory bowel disease (IBD) is a group of inflammation, inflammatory conditions of the colon (anatomy), colon and small intestine, Crohn's disease and ulcerative colitis being the principal types. Crohn's disease affects the small intestine a ...
s (IBDs), such as
Crohn's disease
Crohn's disease is a type of inflammatory bowel disease (IBD) that may affect any segment of the gastrointestinal tract. Symptoms often include abdominal pain, diarrhea (which may be bloody if inflammation is severe), fever, abdominal distension ...
(CD) or
Ulcerative Colitis (UC), are chronic inflammatory conditions of the
gastrointestinal tract
The gastrointestinal tract (GI tract, digestive tract, alimentary canal) is the tract or passageway of the digestive system that leads from the mouth to the anus. The GI tract contains all the major organ (biology), organs of the digestive syste ...
. 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
Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the ''G6PC3'' gene.
Function
This gene encodes the catalytic subunit of glucose 6-phosphatase (G6Pase). G6Pase is located in the endo ...
), as well as the
specific immune response and immune regulation (
IL10,
IL10RA,
FOXP3).
References
External links
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Gastrointestinal tract disorders