RESUMO
Familial Mediterranean fever (FMF) is known to be a genetic disorder that prevalent among populations surrounding the Mediterranean Sea. Since Mediterranean fever gene (MEFV) was discovered at 1997, some cases have been reported in countries not related or close to this area like Japan. In addition it has been generally accepted that the clinical onset of FMF begins before 20 yr of age in most patients. Onset of the disease at an older age may occur but is rare. Adult-onset FMF may be a form of disease with distinct clinical, demographic and molecular characteristics. We describe a case of adult-onset FMF confirmed by DNA analysis of the MEFV gene in a Korean patient. A 32-yr-old man, who has no family history of FMF, presented with periodic fever, abdominal pain and vomiting. Though several various tests were thoroughly performed to evaluate the cause of his symptoms, there was no evidence of infectious, autoimmune or neoplastic diseases. Several gene analysis of periodic fever syndrome was finally performed and two point mutations (p.Leu110Pro, p.Glu148Gln) were identified. We confirmed the first adult case of FMF through detection of MEFV gene mutations in Korea and describe his clinical characteristics.
Assuntos
Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/diagnóstico , Dor Abdominal/etiologia , Adulto , Proteínas do Citoesqueleto/metabolismo , Análise Mutacional de DNA , Febre Familiar do Mediterrâneo/genética , Febre/etiologia , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Pirina , República da Coreia , Tomografia Computadorizada por Raios X , Vômito/etiologiaRESUMO
Transmitted drug resistance (TDR) in treatment-naive HIV patients can contribute to failure of initial antiretroviral therapy. In Korea, there has been a gradual increase in TDR, but the recent increase in the use of integrase strand transfer inhibitors (INSTIs) could affect TDR trends and INSTI resistance mutations. We evaluated the patterns of TDR in newly diagnosed HIV patients over time from 2011 to 2019. We analyzed the genotypic resistance of strains in 336 patients and sequenced the integrase gene in 71 among 336 subjects. The overall prevalence of TDR was 5.9% (20 of 336 patients), and it showed a tendency to increase over time (5.1% in 2011-2013, 6.1% in 2014-2016, and 7.2% in 2017-2019; p = .3018). Furthermore, non-nucleoside reverse transcriptase inhibitor resistance showed a marginally significant increase over time (1.45% in 2011-2013, 3.48% in 2014-2016, and 6.02% in 2017-2019; p = .0505). Regarding transmitted INSTI resistance mutation, there were no major INSTI resistance mutations but several accessory INSTI resistance mutations and predominant natural polymorphisms. This study shows several significant changes in TDR and suggests the importance of continuous surveillance of TDR and genetic variation in the integrase region.