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불명열(Fever of Unknown Origin, FUO)로 내원한 환아에서 진단된 NOD2 유전자 변이 크론병

Crohn’s disease with NOD2 gene mutation diagnosed in a patient with fever of unknown origin

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We apply the term Fever of unknown origin (FUO) to children with fever >38oC of at least eight days’ duration, in whom no diagnosis is apparent after initial evaluation. Fever is a prominent component of inflammatory bowel disease (IBD), especially Crohn’s disease (CD), in many children and may be more common than abdominal symptoms. The pediatric CD rate is rapidly increasing and pediatric onset IBD represents ≥25% of all IBD diagnoses. The nucleotide-binding oligomerization domain (NOD) protein is belonging to the intracellular NOD-like receptor family. NOD2 was the first and is the most replicated locus associated with IBD. In this paper, authors report a case of CD with FUO and NOD2 mutation in a 12-year-old girl.

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