Comak Elif, Akman Sema, Koyun Mustafa, Dogan Cagla Serpil, Gokceoglu Arife Uslu, Arikan Yunus, Keser Ibrahim
Department of Pediatric Nephrology and Rheumatology, School of Medicine, Akdeniz University, 07070, Antalya, Turkey,
Clin Rheumatol. 2014 Dec;33(12):1765-71. doi: 10.1007/s10067-014-2602-6. Epub 2014 Apr 10.
To date, over 200 alterations have been reported in Mediterranean fever (MEFV) genes, but it is not clear whether all these alterations are disease-causing mutations. This study aims to evaluate the clinical features of the children with R202Q alteration. The medical records of children with R202Q alteration were reviewed retrospectively. A total of 225 children, with 113 males, were included. Fifty-five patients were heterozygous, 30 patients were homozygous for R202Q, and 140 patients were compound heterozygous. Classical familial Mediterranean fever (FMF) phenotype was present in 113 patients: 2 heterozygous and 7 homozygous R202Q, 46 double homozygous R202Q and M694V, and 58 compound heterozygous. The main clinical characteristics of the patients were abdominal pain in 71.5 %, fever in 37.7 %, arthralgia/myalgia in 30.2 %, arthritis in 10.2 %, chest pain in 14.6 % and erysipelas-like erythema in 13.3 %. The frequency of abdominal pain was significantly lower in patients with homozygous R202Q alteration (p = 0.021), whereas patients with heterozygous R202Q mutations, though not statistically significant, had a higher frequency of arthralgia/myalgia (40.0 %, p = 0.05). R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases. This alteration may be associated with a mild phenotype and shows phenotypic differences other than the common MEFV mutations.
迄今为止，在地中海热（MEFV）基因中已报道了200多种改变，但尚不清楚所有这些改变是否都是致病突变。本研究旨在评估具有R202Q改变的儿童的临床特征。回顾性分析了具有R202Q改变的儿童的病历。共纳入225名儿童，其中男性113名。55例为杂合子，30例为R202Q纯合子，140例为复合杂合子。113例患者出现典型的家族性地中海热（FMF）表型：2例R202Q杂合子和7例纯合子，46例R202Q和M694V双纯合子，58例复合杂合子。患者的主要临床特征为腹痛71.5%、发热37.7%、关节痛/肌痛30.2%、关节炎10.2%、胸痛14.6%和丹毒样红斑13.3%。R202Q纯合子改变的患者腹痛发生率显著较低（p = 0.021），而R202Q杂合子突变的患者关节痛/肌痛发生率较高（40.0%，p = 0.05），尽管无统计学意义。MEFV基因的R202Q改变在某些情况下会导致与FMF一致的症状。这种改变可能与轻度表型相关，并表现出与常见MEFV突变不同的表型差异。
