Allende Martínez, Luis Miguel Ramos Amador, José Tomás
PFAPA syndrome in siblings. Is there a genetic background? [artículo] - European Journal of Pediatrics, 2011 - 170(12):1563-1568.
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.
PFAPA syndrome in siblings. Is there a genetic background? [artículo] - European Journal of Pediatrics, 2011 - 170(12):1563-1568.
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.
