PFAPA syndrome in siblings. Is there a genetic background? [artículo]
Por: Allende Martínez, Luis Miguel [Inmunología]
| Ramos Amador, José Tomás [Pediatría].
Colaborador(es): Servicio de Inmunología | Servicio de Pediatría-Neonatología.
Editor: European Journal of Pediatrics, 2011Descripción: 170(12):1563-1568.Recursos en línea: Solicitar documento Resumen: "PFAPA syndrome" is an autoinflammatory entity composed of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. There have been many reports of children with the disease, but only occasionally have been described in siblings, and no specific genetic mutation has been determined yet. Corticosteroids are the mainstay in the treatment of the acute attacks. The role of surgery in long-term follow-up (tonsillectomy with or without adenoidectomy) is controversial. We report two brothers affected with the syndrome, in whom corticosteroids as the only treatment led to an improvement. A genetic work-up was performed, making very unlikely other possible syndromes of recurrent fever.
| Tipo de ítem | Ubicación actual | Signatura | Estado | Fecha de vencimiento |
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Artículo
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PC3635 (Navegar estantería) | Disponible |
Formato Vancouver:
Antón-Martín P, Ortiz Movilla R, Guillén Martín S, Allende LM, Cuesta Rubio MT, López González MF, et al. PFAPA syndrome in siblings. Is there a genetic background? Eur J Pediatr. 2011;170(12):1563-8.
PMID: 21537926
Contiene 22 referencias.
"PFAPA syndrome" is an autoinflammatory entity composed of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. There have been many reports of children with the disease, but only occasionally have been described in siblings, and no specific genetic mutation has been determined yet. Corticosteroids are the mainstay in the treatment of the acute attacks. The role of surgery in long-term follow-up (tonsillectomy with or without adenoidectomy) is controversial. We report two brothers affected with the syndrome, in whom corticosteroids as the only treatment led to an improvement. A genetic work-up was performed, making very unlikely other possible syndromes of recurrent fever.
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