Mediterranean mimicker

After obtaining written informed consent, we did a genome sequencing examination for the Mediterranean fever gene (MEFV) mutation, which showed a heterozygous MEFV 910G>A point mutation. Recent studies suggest an association between MEFV and inflammatory bowel disease,4 although MEFV mutations ma...

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Published inThe Lancet (British edition) Vol. 380; no. 9858; p. 2052
Main Authors Arasawa, Soichi, MD, Nakase, Hiroshi, Dr, Ozaki, Yoshinao, MD, Uza, Norimitsu, MD, Matsuura, Minoru, MD, Chiba, Tsutomu, MD
Format Journal Article
LanguageEnglish
Published Kidlington Elsevier Ltd 08.12.2012
Elsevier
Elsevier Limited
Subjects
Abdomen
Adult
Biological and medical sciences
Colitis - diagnosis
Crohn Disease - diagnosis
Cytoskeletal Proteins - genetics
Diagnosis, Differential
Familial Mediterranean Fever - diagnosis
Familial Mediterranean Fever - genetics
Female
Fever
General aspects
Heterozygote
Humans
Inflammatory bowel disease
Internal Medicine
Medical sciences
Mutation
Mutation, Missense - genetics
Pain
Pyrin
Mediterranean Basin
Medicine
Mediterranean region
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Summary:After obtaining written informed consent, we did a genome sequencing examination for the Mediterranean fever gene (MEFV) mutation, which showed a heterozygous MEFV 910G>A point mutation. Recent studies suggest an association between MEFV and inflammatory bowel disease,4 although MEFV mutations make no important contribution to inflammatory bowel disease susceptibility.5 Our patient showed colonic lesions mimicking Crohn's disease.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0140-6736
1474-547X
DOI:10.1016/S0140-6736(12)61377-4