Celebi-Tayfur Aslı, Bilginer Yelda, Finetti Martina, Gattorno Marco, Ozen Seza
Department of Pediatric Nephrology&Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2013 Jan-Feb;55(1):78-81.
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory disorder caused by mutations in the TNFRSF1A gene encoding the 55-kDa receptor for tumor necrosis factor (TNF)-α. It is characterized by recurrent prolonged episodes of fever accompanied by abdominal pain, pleuritis, migratory skin rashes, fasciitis, headache, conjunctivitis, and periorbital edema. We report two children, one with a severe mutation in the TNFRSF1A gene causing the typical phenotype. The second patient had a homozygous R92Q-type mutation and displayed a periodic fever with aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome-like phenotype. In the eastern Mediterranean region, TRAPS is probably underdiagnosed because of the overwhelming frequency of familial Mediterranean fever (FMF). However, TRAPS should be sought for in patients with atypical symptoms for FMF.
肿瘤坏死因子受体相关周期性综合征（TRAPS）是一种常染色体显性遗传的自身炎症性疾病，由编码肿瘤坏死因子（TNF）-α的55 kDa受体的TNFRSF1A基因突变引起。其特征为反复出现的长时间发热，并伴有腹痛、胸膜炎、游走性皮疹、筋膜炎、头痛、结膜炎和眶周水肿。我们报告了两名儿童，其中一名在TNFRSF1A基因中有严重突变，导致典型表型。第二名患者有纯合R92Q型突变，并表现出周期性发热伴阿弗他口炎、咽炎和腺炎（PFAPA）综合征样表型。在地中海东部地区，由于家族性地中海热（FMF）极为常见，TRAPS可能未得到充分诊断。然而，对于有FMF非典型症状的患者，应排查TRAPS。
