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首页> 外文期刊>Balkan journal of medical genetics: BJMG >INCREASED FREQUENCY OF MEFV GENES IN PATIENTS WITH EPIGASTRIC PAIN SYNDROME
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INCREASED FREQUENCY OF MEFV GENES IN PATIENTS WITH EPIGASTRIC PAIN SYNDROME

机译：腹部疼痛综合征患者MEFV基因频率增加

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摘要

Atypical clinical forms of familial Mediterranean fever (FMF) can be misdiagnosed as therapy-resistant epigastric pain syndrome (EPS) for they share many of the same clinical features, such as abdominal pain. Thus, we aimed to determined the frequency of FMF in patients who were followed with a diagnosis of therapy-resistant EPS. Seventy-five patients with therapy-resistant EPS and 20 controls were involved in the study. To detect the FMF in patients with therapy-resistant EPS, Tel-Hashomer criteria, family history of FMF were researched and recorded. We performed performed MEFV gene analysis on all patients. Forty-three patients with EPS (57.3%) had MEFV gene mutations and the carrier rate was 30.0%. The most common MEFV gene alteration was R202Q (55.8%), followed by E148Q (16.2%), R761H (16.2%), V726A (9.3%), M680I (9.3%) and M694V (4.6%). Rarely seen mutations in the Turkish population were also identified: K695R (2.3%), L110P (2.3%) and G304R (2.3%). Eight patients with EPS were diagnosed with FMF and started on colchicine therapy. Three patients with compound heterozygosities for three mutations, two patients with compound het-erozygosities for two mutations (K695R/V726A and R202Q/R761H), one patient with homozygous R202Q, one patient with heterozygous R202Q mutation and one patient with nonR202Q heterozygous mutation (G304R/-) had clinical FMF symptoms and were started on colchicine therapy. Patients who have therapy-resistant EPS should also be questioned about FMF, especially in high risk populations.
机译：非典型地中海发热（FMF）的临床形式可以被误诊为治疗抗性疼痛综合征（EPS），它们共享许多相同的临床特征，如腹痛。因此，我们旨在确定随后诊断治疗抗性EPS的患者中FMF的频率。七十五名有治疗抗性EPS和20个对照的患者参与了该研究。为了检测耐治疗患者的FMF，研究和记录了FMF的家庭历史。我们对所有患者进行了MEFV基因分析。患有EPS（57.3％）的四十三名患者具有MEFV基因突变，载流量为30.0％。最常见的MEFV基因改变为R202Q（55.8％），其次是E148Q（16.2％），R761H（16.2％），V726A（9.3％），M680i（9.3％）和M694V（4.6％）。还鉴定了土耳其人群中的突变：K695R（2.3％），L110P（2.3％）和G304R（2.3％）。 8名EPS患者被诊断为FMF并开始于血晶疗法。三个患者的三个突变患者，三个突变，两个患者复合HET-ERozygosities两个突变（K695R / V726A和R202Q / R761H），一名患者纯合R202Q，一名患者杂合R202Q突变和一名患有非R202Q杂合突变的患者（G304R / - ）患有临床FMF症状，并开始于血晶疗法。耐治疗股的患者也应质疑关于FMF，特别是在高危人群中。

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