Chang Pan Huo N M N J, Dankert-Roelse J E, Kwee M L
VU Medisch Centrum, Amsterdam.
Ned Tijdschr Geneeskd. 2006 Dec 9;150(49):2711-4.
A 9-month-old girl was referred to the paediatrician because of fever of unknown origin. Since the age of 4 years she had recurrent attacks of muscle, joint and abdominal pain, in addition to periodic fever. Her sister and her mother had similar symptoms. The tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) was suspected and confirmed by DNA analysis. Several members of the extended family were carriers of the same mutation. In patients with recurrent unexplained periods offever in combination with myalgia, arthralgia and abdominal pain, and in whom these symptoms also occur in members of the family, TRAPS should be considered as the cause. Glucocorticosteroids and etanercept, a TNF-receptor antagonist, may be effective in the treatment of attacks. Early recognition of this syndrome is important because of the risk of developing amyloidosis.
一名9个月大的女童因不明原因发热被转诊至儿科医生处。自4岁起,除周期性发热外,她还反复出现肌肉、关节和腹痛发作。她的姐姐和母亲有类似症状。怀疑为肿瘤坏死因子(TNF)受体相关周期性综合征(TRAPS),并经DNA分析确诊。大家庭中的几名成员是同一突变的携带者。对于反复出现不明原因发热并伴有肌痛、关节痛和腹痛,且这些症状在家庭成员中也出现的患者,应考虑TRAPS为病因。糖皮质激素和TNF受体拮抗剂依那西普可能对发作治疗有效。由于存在发展为淀粉样变性的风险,早期识别该综合征很重要。