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Differentiating PFAPA Syndrome From Monogenic Periodic Fevers
Pediatrics, 10/01/09

Gattorno M et al. – The Gaslini diagnostic score represents a useful tool to identify patients meeting periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome criteria and at low risk of carrying relevant mutations in genes associated with periodic fevers. Conversely, patients with high risk should be screened for the most–probable gene according to their clinical phenotype (ie, positive FMF criteria for patients of Jewish, Arabic, Turkish, or Armenian ethnicity) and/or ancillary laboratory examinations (ie, determination of urinary mevalonic acid levels during fever episodes) and should be classified as having PFAPA syndrome only in the case of negative genetic testing results. Further validation of the diagnostic score in children with a PFAPA syndrome phenotype in different populations is warranted, to establish its accuracy in different ethnic groups.

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