P03-001 - PFAPA and MEFV genes
نویسندگان
چکیده
Introduction Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Restless, headache, abdominal pain, vomiting, hepatosplenomegaly and arthralgia are less common symptoms seeing in this disease. The diagnosis is established on the basis of clinical criteria that require the presence of a recurrent fever of early onset (<5 years) and ≥1 of the 3 associated symptoms (aphthosis, cervical adenitis, and pharyngitis), in the absence of upper respiratory tract infections and cyclic neutropenia.
منابع مشابه
MEFV Variants in Patients with PFAPA Syndrome in Japan
BACKGROUND The pathogenesis of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome is unknown as yet. In order to understand whether genes implicated in other auto-inflammatory diseases might be involved in the pathogenesis of PFAPA, all variants in the genes causing familial Mediterranean fever (FMF), tumor necrosis factor (TNF) receptor-associated periodic syndrome (TR...
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Introduction PFAPA syndrome (acronym for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most common cause of periodic fever in childhood. It is considered part of the wide family of the autoinflammatory diseases, but a genetic or molecular marker hasn’t been identified yet, therefore, its etiology is still unknown. Diagnosis is essentially based on clinical crite...
متن کاملMEFV and NLRP3 gene variants in children with pfapa syndrome in slovenia
Introduction PFAPA syndrome is the most common autoinflammatory fever disorder in childhood, characterized by recurrent fever, aphthous stomatitis, pharyngitis and adenitis. Mutations in the MEFV and NLRP3 genes are known to cause syndromes with PFAPA overlapping symptoms (Familial Mediterranean Fever and Cryopyrin-Associated Periodic Syndrome), which are rarely reported in patients from Slovenia.
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PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the Uni...
متن کاملPFAPA and 12 Common MEFV Gene Mutations Our Clinical Experience
OBJECTIVE Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Although PFAPA is an auto inflammatory disease, it doesn't have genetic basis such as other periodic fevers. This study evaluates the 12 common MEFV gene mutations in patients with PFAPA syndrome. METHODS 21 patients with PFAPA syndr...
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