Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population

Annals of the Rheumatic Diseases
Silvia FedericiMarco Gattorno

Abstract

To evaluate the actual impact of MEFV mutations on clinical manifestations associated with fever attacks in Caucasian children with periodic fever. 113 children carrying MEFV mutations (44 with mutations in two alleles, 69 heterozygous) and 205 children negative for mutations in genes associated with periodic fevers were analysed. The following groups of patients were considered: patients carrying two high penetrance mutations (M694V, M694I, M680I); one high, one low penetrance mutation; two low penetrance mutations; one high penetrance mutation; one low penetrance mutation; genetically negative patients. Patients with two MEFV mutations displayed a shorter duration of fever attacks and higher prevalence of a positive family history than patients carrying one MEFV mutation and genetically negative patients. Severe abdominal pain, chest pain and pleurisy were also more frequent in patients with two MEFV mutations compared with children with one MEFV mutation and genetically negative patients. Conversely, a higher frequency of exudative and erythematous pharyngitis, enlargement of cervical lymph nodes, aphthous stomatitis and non-specific skin rash was observed in genetically negative patients and, to a lesser extent, in patients...Continue Reading

Citations

Mar 29, 2013·Journal of Medical Genetics·Isabelle Touitou
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Apr 14, 2016·Joint, Bone, Spine : Revue Du Rhumatisme·Perrine DusserIsabelle Koné-Paut
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Oct 11, 2020·Annals of the Rheumatic Diseases·Flora MagnottiYvan Jamilloux
May 18, 2020·Seminars in Arthritis and Rheumatism·Marco GattornoNicolino Ruperto

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