Bd Coskun, A Kiraz, E Sevinc, O Baspinar, E Cakmak
Department of Gastroenterology, Kayseri Training and Research Hospital, Kayseri, Turkey.
Department of Genetics, Kayseri Training and Research Hospital, Kayseri, Turkey.
Balkan J Med Genet. 2017 Dec 29;20(2):51-58. doi: 10.1515/bjmg-2017-0020. eCollection 2017 Dec.
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 gene analysis on all patients. Forty-three patients with EPS (57.3%) had gene mutations and the carrier rate was 30.0%. The most common 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 heterozygosities for two mutations (K695R/ V726A and R202Q/ R761H), one patient with homozygous R202Q, one patient with heterozygous R202Q mutation and one patient with non- R202Q 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.
家族性地中海热（FMF）的非典型临床形式可能会被误诊为治疗抵抗性上腹痛综合征（EPS），因为它们有许多相同的临床特征，如腹痛。因此，我们旨在确定被诊断为治疗抵抗性EPS的患者中FMF的发生率。75例治疗抵抗性EPS患者和20例对照参与了该研究。为了检测治疗抵抗性EPS患者中的FMF，研究并记录了Tel-Hashomer标准、FMF家族史。我们对所有患者进行了基因分析。43例EPS患者（57.3%）有基因突变，携带率为30.0%。最常见的基因突变是R202Q（55.8%），其次是E148Q（16.2%）、R761H（16.2%）、V726A（9.3%）、M680I（9.3%）和M694V（4.6%）。还发现了土耳其人群中罕见的突变：K695R（2.3%）、L110P（2.3%）和G304R（2.3%）。8例EPS患者被诊断为FMF并开始使用秋水仙碱治疗。3例具有三种突变的复合杂合子患者、2例具有两种突变（K695R/V726A和R202Q/R761H）的复合杂合子患者、1例纯合R202Q患者、1例杂合R202Q突变患者和1例非R202Q杂合突变患者（G304R/-）有临床FMF症状并开始使用秋水仙碱治疗。对于有治疗抵抗性EPS的患者，也应询问其FMF情况，尤其是在高危人群中。
