摘要
Blau综合征是由NOD2基因突变导致的单基因遗传病。多于5岁前发病。典型临床表现为肉芽肿性关节炎、皮疹及虹膜睫状体炎三联征,此外可有大动脉炎及肝、脾和肾脏的肉芽肿。Blau综合征诊断需行皮肤或滑膜病理活检。NOD2基因突变可确诊本病。治疗选择糖皮质激素、非甾体类抗炎药和免疫抑制剂,合并虹膜睫状体炎和大动脉炎者应尽早应用肿瘤坏死因子(TNF)-α抑制剂改善病情和预后。
Blau syndrome（BS）is a monogenic disease result- ing from mutations in the NOD2. It is characterized by the tri- ad of granulomatous polyarthritis, dermatitis and uveitis with an onset age before five years. Takayasu＇ s arteritis, granuloma in liver and spleen and kidney are often observed in Blau syn- drome. Diagnosis is made on the basis of pathological biopsy of skin or synovium. The mutation of NOD2 can also confirm the diagnosis. The treatment for Blau syndrome includes glueo- corticoid, nonsteroidal anti-inflammatory drug and immuno- suppressor. Early treatment with TNF-α inhibitor for patients with iridocyclitis and Takayasu＇ s arteritis can improve the prognosis.
出处
《中国实用儿科杂志》
CSCD
北大核心
2018年第1期26-29,共4页
Chinese Journal of Practical Pediatrics
