Performance of the new Eurofever/PRINTO classification criteria in Familial Mediterranean fever patients with a single exon 10 mutation in childhood.
A single exon 10 mutation
Children
Familial Mediterranean fever
New Eurofever/PRINTO classification criteria
Journal
Rheumatology international
ISSN: 1437-160X
Titre abrégé: Rheumatol Int
Pays: Germany
ID NLM: 8206885
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
11
08
2020
accepted:
18
09
2020
pubmed:
3
10
2020
medline:
10
11
2021
entrez:
2
10
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33006008
doi: 10.1007/s00296-020-04709-y
pii: 10.1007/s00296-020-04709-y
doi:
Substances chimiques
MEFV protein, human
0
Pyrin
0
Types de publication
Evaluation Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
95-101Références
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