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Autre Publication Scientifique The Journal of Pediatrics Année : 2003

MEFV gene analysis in PFAPA

Résumé

The PFAPA syndrome is a chronic disease of unknown etiology characterized by Periodic episodes of high Fever accompanied by Aphthous stomatitis, Pharyngitis, and cervical Adenitis, sometimes associated with headache and/ or abdominal or joint pain. 1-3 This syndrome belongs to the group of recurrent fever syndromes, which includes systemic onset juvenile rheumatoid arthritis, cyclic neutropenia, and the group of hereditary fevers, ie, familial Mediterranean fever (FMF), hyperimmunoglobinemia D syndrome (HIDS), TNF receptor-1-associated syndromes (TRAPS), Muckle-Wells syndrome (MWS), and familial cold urticaria (FCU). 2 As with other recurrent fevers, the diagnosis of this disease is difficult to establish because: (a) none of the clinical symptoms is pathognomonic of PFAPA; (b) there is no specific biologic abnormality; and (c) the symptomatology may mimic other recurrent fevers. However, regarding the latter point, molecularly-based diagnostic tests are now available for several of the hereditary recurrent fevers: MEFV gene analysis has been proved to provide an objective diagnostic criterion for FMF 4 ; HIDS has been shown to result from mutations in the mevalonate kinase gene 5,6 ; mutations in the gene encoding the tumor necrosis factor receptor-type 1 (TNFRSF1A) have been identified in patients with TRAPS 7 ; more recently, it has been shown that MWS and FCU are both related to mutations in the CIAS1 gene. 8,9 The phenotypic similarities between PFAPA and FMF prompted us to test the involvement of MEFV in PFAPA. Indeed, given the recent demonstration that different hereditary inflammatory disorders may be related to mutations in a single gene, eg, mutations in CIAS1 and NOD2 accounting for MWS or FCU, 8,9 and Crohn's disease or Blau syndrome, 10,11 respectively, one cannot exclude the possibility that, depending on the nature of the molecular defect, the MEFV gene may be involved in clinically related diseases. We have, therefore, searched for MEFV mutations in six unrelated children with PFAPA by means of an exhaustive molecular analysis of all coding sequences and intronic boundaries. 4 All patients met the clinical criteria for FMF defined by Livneh et al. 12 Among the twelve independent alleles studied, only one was found to carry a MEFV gene mutation: the M694V substitution (nucleotide 2080 ATG>GTG), which was identified in a girl of Sephardic Jewish origin, a population in which the frequency of healthy carriers for the M694V substitution reaches one sixth. Therefore, our patient may actually be a simple carrier, a hypothesis further strengthened by the fact that this patient was successfully treated with cimetidine, a drug known to be efficient in several patients with PFAPA. 13 The similar existence of MEFV mutations in
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Dates et versions

inserm-04141850 , version 1 (26-06-2023)

Identifiants

Citer

Cécile Cazeneuve, David Geneviève, Serge Amselem, Véronique Hentgen, Isabelle Hau, et al.. MEFV gene analysis in PFAPA. J Pediatr - The Journal of Pediatrics, 2003, pp.140-141. ⟨10.1016/S0022-3476(03)00259-2⟩. ⟨inserm-04141850⟩

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