Performance of the new Eurofever/PRINTO classification criteria in Familial Mediterranean fever patients with a single e
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Rheumatology International https://doi.org/10.1007/s00296-020-04709-y
INTERNATIONAL
OBSERVATIONAL RESEARCH
Performance of the new Eurofever/PRINTO classification criteria in Familial Mediterranean fever patients with a single exon 10 mutation in childhood Fatma Aydın1 · Tuba Kurt1 · Müge Sezer1 · Nilüfer Tekgöz1 · Zahide Ekici Tekin1 · Cüneyt Karagöl1 · Serkan Coşkun1 · Banu Çelikel Acar1 Received: 11 August 2020 / Accepted: 18 September 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract 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. Keywords Familial Mediterranean fever · New Eurofever/PRINTO classification criteria · Children · A single exon 10 mutation
Introduction Familial Mediterranean fever (FMF) is the most frequent autoinflammatory disease and is characterized by recurrent fever, serositis and arthritis episodes accompanied with high acute phase reactants [1]. Mediterranean fever (MEFV) gene is known to be responsible for FMF since 1997. The MEFV
gene is localized on chromosome 16p13.3 and consists of ten exons [2, 3]. Two sets of clinical criteria for adults have been proposed for the diagnosis of FMF; Tel Hashomer and Livneh criteria [4, 5]. These criteria were developed before the identification of MEFV gene. The pediatric clinical criteria (Yalcinkaya-Ozen) were established in 2009 provide facility in diagnosis and are widely used, especially in
* Fatma Aydın [email protected]
Cüneyt Karagöl [email protected]
Tuba Kurt [email protected]
Serkan Coşkun [email protected]
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