P03-001 - PFAPA and MEFV genes

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P03-001 - PFAPA and MEFV genes

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...

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P03-005 - MEFV heterozygous mutations in PFAPA patients

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...

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P03-004 - Production of proinflammatory cytokines in PFAPA

Introduction The PFAPA syndrome, associated with aphthous stomatitis, pharyngitis and cervical adenitis which is characterized by monthly flare-ups of fever is quite common in early childhood. Affected children experience their first attack before the age of 5, with fever episodes usually abating in adolescence or young adulthood. Usually a single administration of oral corticosteroids aborts a...

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PFAPA 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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PW03-001 - PFAPA syndrome in Turkish children

Results The median age of onset was 12 months, with a maleto-female ratio of 1,6:1. The length of fever attacks ranged between 2-8 days, and symptom-free intervals between 10-45 days. The most common associated symptoms were pharyngitis (100%), abdominal pain (45,1%), aphthous stomatitis (43,7%), and cervical lymphadenitis (32,4%). During fever flares, the leukocyte count and acute phase reacta...

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ژورنال

عنوان ژورنال: Pediatric Rheumatology

سال: 2013

ISSN: 1546-0096

DOI: 10.1186/1546-0096-11-s1-a196