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10.1186/s13075-016-1071-5

http://scihub22266oqcxt.onion/10.1186/s13075-016-1071-5
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suck abstract from ncbi


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pmid27473114      Arthritis+Res+Ther 2016 ; 18 (ä): 175
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  • Familial Mediterranean fever is no longer a rare disease in Japan #MMPMID27473114
  • Migita K; Izumi Y; Jiuchi Y; Iwanaga N; Kawahara C; Agematsu K; Yachie A; Masumoto J; Fujikawa K; Yamasaki S; Nakamura T; Ubara Y; Koga T; Nakashima Y; Shimizu T; Umeda M; Nonaka F; Yasunami M; Eguchi K; Yoshiura K; Kawakami A
  • Arthritis Res Ther 2016[Jul]; 18 (ä): 175 PMID27473114show ga
  • BACKGROUND: The aim of this study was to evaluate the clinical manifestations and prevalence of familial Mediterranean fever (FMF) in Japanese patients with unexplained fever and rheumatic manifestations. METHODS: We enrolled 601 patients with unexplained fever or suspected FMF throughout Japan between 2009 and 2015. Patients were divided into three groups according to Tel Hashomer criteria: sure FMF, probable FMF, and non-FMF patients, including definitive rheumatic diseases. Mutation detection in exons 1, 2, 3, and 10 of the FMF gene MEFV was performed by direct sequencing. RESULTS: A total of 192 patients (31.9 %) were diagnosed with FMF according to FMF diagnostic criteria. These could be divided into sure FMF (56.3 %, n = 108) and probable FMF (43.7 %, n = 84) patients. Fever, abdominal symptoms, and thoracic symptoms were significantly more common in FMF than non-FMF patients. Among FMF patients, 26 (13.5 %) had concomitant rheumatic diseases. Most FMF patients (94.3 %, 181/192) carried at least one MEFV mutation. Allele frequencies of M694I (13.5 % vs 0 %) and E148Q (39.1 % vs 24.8 %) mutations were significantly higher in FMF compared with healthy subjects. Allele frequencies of common MEFV mutations in FMF patients were M694I (13.5 %), P369S (8.6 %), R408Q (8.1 %), G304R (2.9 %), R202Q (4.4 %), E148Q (39.1 %), L110P (11.7 %), and E84K (3.1 %). Patients with a sure FMF phenotype had a higher frequency of MEFV exon 10 mutation (M694I) and a lower frequency of MEFV exon 3 mutations (P369S, R408Q) compared with those with a probable FMF phenotype. CONCLUSION: The high prevalence of FMF in Japanese patients with unexplained fever was confirmed in the present study. FMF should be suspected in cases of unexplained fever or non-specific rheumatic manifestations, and mutational analysis of MEFV could be useful to predict the clinical phenotypes of FMF in Japan.
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Aged[MESH]
  • |Aged, 80 and over[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |DNA Mutational Analysis[MESH]
  • |Familial Mediterranean Fever/*epidemiology/genetics[MESH]
  • |Female[MESH]
  • |Gene Frequency[MESH]
  • |Humans[MESH]
  • |Infant[MESH]
  • |Infant, Newborn[MESH]
  • |Japan/epidemiology[MESH]
  • |Male[MESH]
  • |Middle Aged[MESH]
  • |Mutation[MESH]
  • |Polymerase Chain Reaction[MESH]
  • |Prevalence[MESH]
  • |Rare Diseases/*epidemiology[MESH]


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