نتایج جستجو برای: hereditary periodic fever syndromes
تعداد نتایج: 337589 فیلتر نتایج به سال:
Guidelines for the management and treatment of periodic fever syndromes familial Mediterranean fever
Introduction Cryopyrin-associated periodic syndromes (CAPS) are dominantly inherited autoinflammatory diseases (AD) caused by NLRP3 mutations. They include different phenotypes (FCAS, Muckle-Wells syndrome, and CINCA/ NOMID) with different severity, usually as childhood onset fever and urticarial-like rash. In the last years, the clinical picture of CAPS is growing with other manifestations tha...
Introduction Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on the chromosome 16. It is the most frequent periodic febrile syndrome among autoinflammatory syndromes. Eighty % of patients with FMF have MEFV mutations, while aro...
OBJECTIVES To validate the Auto-Inflammatory Diseases Activity Index (AIDAI) in the four major hereditary recurrent fever syndromes (HRFs): familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndromes (CAPS). METHODS In 2010, an international collaboration established th...
Autoinflammatory diseases (AIDs) are characterized by recurrent episodes of systemic and organ-specific inflammation. Many of these diseases share fever as a common presenting feature. Physicians need to consider AIDs in children with recurrent, unexplained fevers, when infectious and malignant causes have been discarded. This article discusses the differential diagnosis of recurrent fever in c...
Methods Hospital records and biochemical data were obtained for patients presenting to the paediatric infectious disease clinic with periodic fever syndromes between 2001 and 2011. 68 patients were identified but 30 were excluded as they had a clear focus of infection or no history of recurrent fever on review of the medical records. The clinical diagnosis, patient demographics, aetiology, feve...
case presentation a ten-year-old iranian boy was referred to our department with history of recurrent abdominal pain followed by fever, chills, arthralgia and scrotal edema. he suffered from hematuria and gastrointestinal bleeding. his physical exam revealed fever (axillary temperature: 38.7°c), hypertension (150/90 mmhg), hepatomegaly (liver span: 13 cm), orchitis and subcutaneous painful nodu...
Results Case 1 Female patient of 17 years old (daughter) has been examined in the Institute since the age of 8 (2004). Since the age of 10 months she has complained for periodic fever, transient macular and papular rash on different body areas without itching, arthralgia/arthritis without joint dysfunction, headache, abdominal pain, sore throat, nodal fever episodes, ulcerative stomatitis and g...
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