Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome.

摘要: OBJECTIVES Although several causes of recurrent pericarditis have been identified, the etiology remains obscure in most cases. The tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS) is common autosomal dominant autoinflammatory disorder and caused by mutations TNFRSF1A gene encoding 55-kD receptor for factor-(TNF)-alpha. Serosal membrane inflammation a feature TRAPS, usually form polyserositis. In addition, patients affected with as only clinical manifestation TRAPS recently described. Our aim was to investigate possible involvement cohort idiopathic pericarditis. METHODS Twenty consecutive diagnosed were enrolled. Each patient underwent detailed examinations order rule out underlying diseases such infections, connective tissue disorders malignancies, searched amplifying, using polymerase chain reaction (PCR), genomic DNA, direct sequencing. RESULTS found 2 20 patients. They siblings, they both carried heterozygous low-penetrance R92Q mutation gene. CONCLUSIONS Familial clustering has reported up 10% pericarditis, thus suggesting some cases genetic predisposition. study suggests that familial may represent clue investigating these eventually disclose TRAPS.