eISSN: 1897-4317
ISSN: 1895-5770
Gastroenterology Review/Przegląd Gastroenterologiczny
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SCImago Journal & Country Rank
3/2013
vol. 8
 
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abstract:
Case report

Interleukin-10 receptor deficiency in a Polish paediatric patient with early onset inflammatory bowel disease

Jarosław Kierkuś
,
Michał Szczepański
,
Dorota Gliwicz
,
Maciej Dądalski
,
Daniel Kotlarz
,
Christofer Klein
,
Józef Ryżko
,
Piotr Socha

Prz Gastroenterol 2013; 8 (3): 202–205
Online publish date: 2013/07/04
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Inflammatory bowel disease (IBD), which includes Crohn's disease (CD) and ulcerative colitis (UC), is a chronic condition characterized by abdominal pain, diarrhoea, bleeding, and malabsorption. The disease is common in young people (children and young adults) yet it is rather rare in children younger than 2 years. A distinct phenotype of early onset IBD (EO-IBD) in infants and small children with severe intractable enterocolitis and greater tendency to develop colonic disease has been described. Recent work has demonstrated that EO-IBD with manifestation in the first months of life can be monogenic, resulting from mutations in interleukin-10 (IL-10) or its receptor and leading to a loss of IL-10 function. Allogeneic haematopoietic stem cell transplantation (HSCT) can be a successful treatment for those patients. We present here a case of a female IL-10R-deficient patient with severe EO-IBD who underwent HSCT.
keywords:

inflammatory bowel diseases, children, interleukin-10

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