Division of Pediatric Rheumatology, Department of Pediatrics, Ministry of Health, Ankara City Hospital, Ankara, Turkey.
Rheumatol Int. 2021 Jan;41(1):95-101. doi: 10.1007/s00296-020-04709-y. Epub 2020 Oct 1.
The diagnosis of Familial Mediterranean fever (FMF) based on clinical findings supported by genetic mutation. Recently, the new Eurofever/PRINTO classification criteria including genetic analysis were established. The aim of this study is to evaluate the performance of the new criteria in FMF patients with a single exon 10 mutation in childhood. The study group consisted of FMF patients who had a single exon 10 mutation in a referral center in Turkey. Patients with periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome were included as a control group. The medical charts of all patients were reviewed retrospectively. A total of 106 FMF patients (59 boys) were enrolled in the study group. The median age at first symptom was 5; the median age at diagnosis was 7 years. The mean follow-up was 33 ± 35.4 months. Majority of the patients (n = 58, 54.7%) had heterozygous M694V, 16 (15%) patients had M694V/E148Q and 13 (13.8%) patients had heterozygous M680I mutation. The sensitivity of the Yalcinkaya-Ozen criteria was 98.1% and it was 97.1% for the Eurofever/PRINTO classification criteria. The specificity of the new Eurofever/PRINTO classification criteria was 96.7% and it was 74.1% for the Yalcinkaya-Ozen criteria. The new Eurofever/PRINTO classification criteria have a good sensitivity as the Yalcinkaya-Ozen criteria in patients with a single exon 10 mutation. Additionaly, the new criteria have better specificity. It should be useful to apply the clinical only criteria where the carrier rate is high.
基于临床发现并结合基因突变的方法对家族性地中海热（FMF）进行诊断。最近，新的 Eurofever/PRINTO 分类标准包括基因分析已经建立。本研究旨在评估新的标准在土耳其转诊中心具有单个外显子 10 突变的 FMF 患者中的表现。研究组包括在土耳其转诊中心具有单个外显子 10 突变的 FMF 患者。周期性发热、口疮性口炎、咽炎和淋巴结炎（PFAPA）综合征患者被纳入对照组。回顾性审查所有患者的病历。共纳入 106 名 FMF 患者（59 名男性）作为研究组。首发症状的中位年龄为 5 岁；诊断时的中位年龄为 7 岁。平均随访时间为 33±35.4 个月。大多数患者（n=58，54.7%）为杂合子 M694V，16 名患者（15%）为 M694V/E148Q，13 名患者（13.8%）为杂合子 M680I 突变。Yalcinkaya-Ozen 标准的敏感性为 98.1%，Eurofever/PRINTO 分类标准的敏感性为 97.1%。新的 Eurofever/PRINTO 分类标准的特异性为 96.7%，Yalcinkaya-Ozen 标准的特异性为 74.1%。新的 Eurofever/PRINTO 分类标准在具有单个外显子 10 突变的患者中具有与 Yalcinkaya-Ozen 标准相同的高敏感性。此外，新的标准具有更好的特异性。在携带率较高的情况下，应用仅基于临床的标准将是有用的。
