Department of Pediatrics, Dicle University Medical School, Diyarbakir, Turkey,
Rheumatol Int. 2014 Feb;34(2):207-12. doi: 10.1007/s00296-013-2858-1. Epub 2013 Sep 26.
The aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded. Clinical manifestations and disease severity scores were recorded. The six most frequent MEFV mutations including M694V, V726A, R726H, P369S, E148Q and P369S were investigated by a reverse hybridization test method. The median age of study group was 9.0 years, median age at diagnosis was 7.8 years, median age at disease onset was 5.0 years, and median follow-up duration was 4.0 years. A positive family history of FMF and parent-to-offspring transmission was found in 58.5 and 42.2 % of families, respectively. The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients. The M694V subgroup had higher mean disease severity score and longer attack duration compared with E148Q and other mutations subgroups (p < 0.05). Two patients with amyloidosis had the M694V homozygote genotype. In conclusion contrast to other regions and many other ethnicities of the world, the most frequent MEFV gene mutation was E148Q in southeast Turkey. The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region.
本研究旨在确定土耳其东南部家族性地中海热（FMF）患儿中地中海热（MEFV）基因突变及其与临床的相关性。前瞻性调查了 147 例（65 名男性，82 名女性）连续 FMF 患儿的 MEFV 基因突变，这些患儿均为 MEFV 基因阳性。排除 MEFV 基因突变阴性或不典型 FMF 表现以及来自该国其他地区的患儿。记录临床表现和疾病严重程度评分。通过反向杂交试验方法检测最常见的 6 种 MEFV 突变，包括 M694V、V726A、R726H、P369S、E148Q 和 P369S。研究组的中位年龄为 9.0 岁，中位诊断年龄为 7.8 岁，中位发病年龄为 5.0 岁，中位随访时间为 4.0 年。58.5%的家庭有 FMF 阳性家族史，42.2%的家庭为亲代向子代传递。独立等位基因的频率依次为 E148Q（30.7%）、M694V（26.0%）、R761H（13.5%）、V726A（13.0%）、P369S（10.5%）和 M680I（6.3%）。与 E148Q 和其他突变亚组相比，M694V 亚组的疾病严重程度评分更高，发作持续时间更长（p<0.05）。2 例淀粉样变性患者为 M694V 纯合子基因型。总之，与世界其他地区和许多其他种族相比，土耳其东南部最常见的 MEFV 基因突变是 E148Q。该地区 FMF 患儿的 M694V 突变频率较低，疾病严重程度相对较轻。
