Familial Mediterranean Fever Gene Mutations and Gout as an Auto-Inflammatory Arthropathy
| Autor: | Roghayeh Nematdoust Haghi, Afsaneh Enteshary, Saeid Hosseini Asl, Yusef Mohammadikebar, Farhad Salehzadeh |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male medicine.medical_specialty Gout Inflammatory arthritis MEFV gene Gene mutation medicine.disease_cause FAMILIAL MEDITERRANEAN FEVER GENE FMF Internal medicine medicine Humans Genetic Predisposition to Disease Allele Gene Alleles Genetic Association Studies Aged Retrospective Studies Aged 80 and over Original Paper Mutation Arthritis Gouty business.industry General Medicine Middle Aged Auto-inflammatory disease medicine.disease MEFV Familial Mediterranean Fever Case-Control Studies Female business |
| Zdroj: | Medical Archives |
| ISSN: | 0350-199X |
| DOI: | 10.5455/medarh.2019.73.55-57 |
| Popis: | Introduction: The auto-inflammatory diseases (AID) are a heterogeneous group of multi-system disorders of innate immunity dysregulation. MEFV gene has major role in AID. Aim: The aim of this study is to investigate the frequency of MEFV variant alleles in gout patients as an AID and their genotype-phenotype relationship. Methods: Total amount of 224 of the healthy people as a control group (113 male and 111 female) and 24 gouty arthritis patients (20 male and 4 female) entered this study. Blood samples screened for the 12 common pathogenic mutations according to manufacturerÂ’s instructions. Results: The mean age of patients was 54 years. MTP joint was the most involved joint (91.66%). Mutations were shown in 5 patients (20.83%) that were not different from healthy population (25%). Five patients carry one mutated MEFV allele, E148Q in 4 patients and V726A in 1 patient. Control group showed 25% mutations as E148Q (18.3%), P369S (3.1%), V726A (2.2%), A744S (1.3%) respectively. The most common mutation detected in patients was E148Q (16.66%) and all of them were males. No significant and meaningful associations were detected between the MEFV gene mutations and gouty arthritis patients. Conclusion: There was not any correlation between MEFV gene mutations carriage with age, sex, the number of joint involvement and the course of disease in gouty arthritis. MEFV gene mutations were more frequent in men than women, but this is not statistically significant. |
| Databáze: | OpenAIRE |
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