The familial Mediterranean fever (MEFV) gene may be a modifier factor of inflammatory bowel disease in infancy.
Pediatric inflammatory bowel disease (IBD) usually manifests in childhood or adolescence, but a small number of cases present in infancy. Genetic factors are more important than environmental ones in the onset of pediatric IBD. We report here the concurrent manifestation of IBD and familial Mediterranean fever (FMF) in three infants (less than 6 months of age) in whom infantile ulcerative colitis (UC) was associated with the MEFV mutation. One patient required colectomy before the diagnosis of FMF, and in the other two patients, the UC could not be controlled until colchicine was added to the drug regimen. We suggest that the onset of UC in infants should prompt a search for MEFV mutations as this association may influence the management of the disease.
Sari
Sinan
S
Department of Pediatric Gastroenterology, Gazi University, Ankara, Turkey. drsinansari@yahoo.com
Egritas
Odul
O
Dalgic
Buket
B
D003082:Colectomy; D003093:Colitis, Ulcerative / Q000235:genetics / Q000473:pathology / Q000601:surgery; D003113:Colonoscopy; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D010505:Familial Mediterranean Fever; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D015212:Inflammatory Bowel Diseases / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008297:Male; D009154:Mutation; D000071198:Pyrin
D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D004247:DNA