Document Detail

Surgery for acute abdomen and MEFV mutations in patients with FMF.
MedLine Citation:
PMID:  19820675     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever, peritonitis, arthritis, pleuritis, and secondary amyloidosis. In the current study, we sought to determine the frequency of acute surgical abdominal intervention and MEFV gene mutations in FMF patients. PATIENTS AND METHODS: A total of 159 patients were referred to our department with a diagnosis of FMF. Twenty-six patients (16.4%) had a history of surgical intervention. Of these, 17 (10.7%) were operated on due to appendicitis, and 9 (5.7%) were operated on due to other acute abdomen reasons. Genomic DNA was isolated from the blood samples, and in the isolated DNA samples, 12 MEFV gene mutations were studied. RESULTS: Mutation frequency was detected to be 80.8% in the patients with acute abdomen surgery intervention and 56.4% in the patients without acute abdomen surgical intervention. Upon mutational evaluation of these patients, we noted that the M694V (40.5%) and E148Q (21.4%) mutations occurred most frequently. CONCLUSIONS: The MEFV gene mutation frequency in FMF patients with acute abdomen surgical intervention was significantly higher than that in patients without such intervention. Increased mutation scanning in FMF patients will significantly decrease unnecessary surgical interventions in this patient group.
Hale Samli; Fadime Mutlu I??duygu; Asuman Ozg??z; G??khan Akbulut; Kuyas Hekimler; Necat Imirzalioglu
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Acta reumatol??gica portuguesa     Volume:  34     ISSN:  0303-464X     ISO Abbreviation:  Acta Reumatol Port     Publication Date:    2009 Jul-Sep
Date Detail:
Created Date:  2009-10-12     Completed Date:  2009-12-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0431702     Medline TA:  Acta Reumatol Port     Country:  Portugal    
Other Details:
Languages:  eng     Pagination:  520-4     Citation Subset:  IM    
Uludag University, Department of Moleculer Biology, Bursa, Turkey.
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MeSH Terms
Abdomen, Acute / diagnosis,  etiology,  surgery*
Cytoskeletal Proteins / genetics*
Familial Mediterranean Fever / diagnosis,  genetics*
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/marenostrin

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