A Japanese Case of Familial Mediterranean Fever with Family History Demonstrating a Mutation in MEFV
نویسندگان
چکیده
منابع مشابه
A Japanese case of familial Mediterranean fever with family history demonstrating a mutation in MEFV.
We describe a 17-year-old woman with a family history of FMF who suffered from recurrent fever accompanied by pains in the left chest and abdomen. During a five-year period she experienced attacks about once every six months. The metaraminol provocative test was positive. Genomic DNA extracted from peripheral blood lymphocytes from both her and her parents were analyzed by polymerase chain reac...
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Postoperative respiratory distress and pulmonary edema can be seen after a wide variety of serious clinical situations, or rare diseases such as familial Mediterranean fever (FMF). FMF is a multisystemic disorder characterized by recurrent bouts of fever and pain due to inflammation of the peritoneum, synovia, or pleura. We report a case with history of FMF who developed postoperative respirato...
متن کاملMEFV mutation analysis of familial Mediterranean fever in Japan.
BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever with serosal inflammation. FMF gene (MEFV) mutations have been identified primarily in patients from Mediterranean populations. Although several clinical cases have been reported in Japan, there have been few reports to date on mutation analysis. We studied FMF patients an...
متن کاملFamilial Mediterranean fever without MEFV mutations: a case–control study
BACKGROUND Although familial Mediterranean fever (FMF) was originally defined as an autosomal recessive disorder, approximately 10-20% of FMF patients do not carry any FMF gene (MEFV) mutations. Fine phenotype characterization may facilitate the elucidation of the genetic background of the so called "FMF without MEFV mutations". In this study we clinically and demographically characterize this ...
متن کاملMEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, pr...
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ژورنال
عنوان ژورنال: Internal Medicine
سال: 2003
ISSN: 0918-2918,1349-7235
DOI: 10.2169/internalmedicine.42.761