[TNF receptor-associated periodic syndrome (TRAPS): clinical aspects and physiopathology of a rare familial disease].
Hereditary periodic fever syndromes are defined as recurrent attacks of generalized inflammation for which no infectious or auto-immune cause can be identified. Minimal clinical variations, a unique biochemical-specific abnormality and the mode of genetic inheritance distinguish the four main diseases: familial Mediterranean fever, hyper-immunoglobulinemia D, TNF-receptor-associated periodic syndrome (TRAPS) and Muckle Wells syndrome. It presents with prolonged attacks of fever and severe localized inflammation. TRAPS is caused by dominantly inherited mutations in the gene encoding the first TNF receptor, which result in decreased serum levels of soluble TNF-receptor leading to inflammation due to unopposed TNF-alpha action. Corticosteroid treatment is not completely effective in most TRAPS patients. Preliminary experiences with recombinant TNF-receptor analogues in the treatment appear be promising.
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Département de médecine de l'enfant et de l'adolescent, unité des grands enfants et des adolescents, hôpital Sud, 16, boulevard de Bulgarie, BP 90347, 35203 Rennes, France. veronique.hentgen@chicreteil.fr
Reinert
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D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D010505:Familial Mediterranean Fever / Q000188:drug therapy / Q000276:immunology* / Q000503:physiopathology*; D006801:Humans; D006942:Hypergammaglobulinemia / Q000188:drug therapy / Q000276:immunology / Q000503:physiopathology; D007249:Inflammation; D009154:Mutation; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics* / Q000502:physiology*; D013577:Syndrome
D000305:Adrenal Cortex Hormones; D018124:Receptors, Tumor Necrosis Factor