Sheyyab Ahmed, Wahdan Rania, Bani-Hani Anas, Al-Thnaibat Mohammad, Matalkah Mahmood, Tahtamouni Lubna, Yasin Salem R
Department of Internal Medicine, Faculty of Medicine, The Hashemite University, Zarqa, 13133, Jordan.
Laboratory of Genetics, Prince Hamzah Hospital, Ministry of Health, Amman, Jordan.
J Nephrol. 2025 Apr;38(3):1049-1055. doi: 10.1007/s40620-025-02272-y. Epub 2025 May 10.
Familial Mediterranean fever (FMF) often manifests as recurrent inflammatory episodes, potentially leading to secondary amyloidosis. Many studies have assessed the clinical correlation between FMF and Mediterranean fever (MEFV) gene variants (FMF type I). However, few studies have focused on patients who remain relatively asymptomatic and present with renal amyloidosis (FMF type II). We hypothesize that patients with kidney failure carry higher rates of FMF variants. Therefore, our study aimed to assess the rates and types of FMF gene variants in a cohort of patients with kidney failure compared to healthy controls of the same area.
This is a cross-sectional study involving a hemodialysis cohort compared to healthy controls. The controls were healthy university students recruited from the Hashemite University campus. Both groups underwent genetic screening for FMF using polymerase chain reaction and reverse hybridization. Patients with positive genetic screening were offered a colonoscopy with rectal biopsies, which were assessed for the deposition of amyloid proteins.
Genetic analysis of the cohort of patients with kidney failure revealed remarkable differences in allele frequency rates across different genotypes. The positivity rate in the hemodialysis cohort reached 16.0%, compared to 12.9% in the healthy controls (p = 0.342, X = 0.902). Among the different genotypes, V726A and M694V were significantly different between the two groups, with p-values of 0.009 and 0.035, respectively.
In our population, patients with kidney failure carried a higher allele frequency of some FMF variants than healthy controls. The M694V and V726A mutations were associated with kidney failure.
家族性地中海热（FMF）常表现为反复发作的炎症，可能导致继发性淀粉样变性。许多研究评估了FMF与地中海热（MEFV）基因变异（I型FMF）之间的临床相关性。然而，很少有研究关注相对无症状且出现肾淀粉样变性的患者（II型FMF）。我们推测肾衰竭患者携带FMF变异的比例更高。因此，我们的研究旨在评估与同一地区健康对照相比，肾衰竭患者队列中FMF基因变异的比例和类型。
这是一项横断面研究，将血液透析队列与健康对照进行比较。对照为从哈希姆大学招募的健康大学生。两组均采用聚合酶链反应和反向杂交进行FMF基因筛查。基因筛查呈阳性的患者接受结肠镜检查及直肠活检，评估淀粉样蛋白沉积情况。
对肾衰竭患者队列的基因分析显示，不同基因型的等位基因频率存在显著差异。血液透析队列的阳性率为16.0%，而健康对照为12.9%（p = 0.342，X = 0.902）。在不同基因型中，两组之间V726A和M694V存在显著差异，p值分别为0.009和0.035。
在我们的人群中，肾衰竭患者某些FMF变异的等位基因频率高于健康对照。M694V和V726A突变与肾衰竭有关。
