Abstract:

Blau syndrome（BS）is a monogenic disease resulting from mutations in the NOD2. It is characterized by the triad 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 syndrome. 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 glucocorticoid，nonsteroidal anti-inflammatory drug and immunosuppressor. Early treatment with TNF-α inhibitor for patients with iridocyclitis and Takayasu’s arteritis can improve the prognosis.

Key words: Blau syndrome, NOD2 gene, granulomatous arthritis of childhood

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。

关键词: Blau综合征, NOD2基因, 儿童肉芽肿性关节炎