张俊梅, 赵晓珍, 唐雪梅, 赵伊楠, 李丽, 高凤乔, 史昕炜, 金燕樑, 张宇, 曹兰芳, 尹薇, 肖继红, 邝伟英, 邓江红, 王江, 檀晓华, 李超, 李士朋, 薛海燕, 刘翠华, 刘小惠, 赵冬梅, 陈雨青, 郑雯洁, 李彩凤. 中国儿童Blau综合征临床特点和治疗分析-全国多中心研究[J]. 罕见病研究, 2022, 1(3): 252-258. DOI: 10.12376/j.issn.2097-0501.2022.03.005
引用本文: 张俊梅, 赵晓珍, 唐雪梅, 赵伊楠, 李丽, 高凤乔, 史昕炜, 金燕樑, 张宇, 曹兰芳, 尹薇, 肖继红, 邝伟英, 邓江红, 王江, 檀晓华, 李超, 李士朋, 薛海燕, 刘翠华, 刘小惠, 赵冬梅, 陈雨青, 郑雯洁, 李彩凤. 中国儿童Blau综合征临床特点和治疗分析-全国多中心研究[J]. 罕见病研究, 2022, 1(3): 252-258. DOI: 10.12376/j.issn.2097-0501.2022.03.005
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ZHANG Junmei, ZHAO Xiaozhen, TANG Xuemei, ZHAO Yi'nan, LI Li, GAO Fengqiao, SHI Xinwei, JIN Yanliang, ZHANG Yu, CAO Lanfang, YIN Wei, XIAO Jihong, KUANG Weiying, DENG Jianghong, WANG Jiang, TAN Xiaohua, LI Chao, LI Shipeng, XUE Haiyan, LIU Cuihua, LIU Xiaohui, ZHAO Dongmei, CHEN Yuqing, ZHENG Wenjie, LI Caifeng. Clinical Characteristics and Treatment of Blau Syndrome in Chinese Children-a National Multicenter Study[J]. Journal of Rare Diseases, 2022, 1(3): 252-258. DOI: 10.12376/j.issn.2097-0501.2022.03.005
Citation: ZHANG Junmei, ZHAO Xiaozhen, TANG Xuemei, ZHAO Yi'nan, LI Li, GAO Fengqiao, SHI Xinwei, JIN Yanliang, ZHANG Yu, CAO Lanfang, YIN Wei, XIAO Jihong, KUANG Weiying, DENG Jianghong, WANG Jiang, TAN Xiaohua, LI Chao, LI Shipeng, XUE Haiyan, LIU Cuihua, LIU Xiaohui, ZHAO Dongmei, CHEN Yuqing, ZHENG Wenjie, LI Caifeng. Clinical Characteristics and Treatment of Blau Syndrome in Chinese Children-a National Multicenter Study[J]. Journal of Rare Diseases, 2022, 1(3): 252-258. DOI: 10.12376/j.issn.2097-0501.2022.03.005
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中国儿童Blau综合征临床特点和治疗分析-全国多中心研究

Clinical Characteristics and Treatment of Blau Syndrome in Chinese Children-a National Multicenter Study

    摘要
  • 摘要:
      目的  研究中国儿童Blau综合征的人口学特征、临床特点、基因型和表型的相关性及治疗情况，使该病能早期诊断并及时治疗。
      方法  回顾性分析全国11家中心2006年5月至2022年4月住院的中国儿童Blau综合征患者72例，收集其年龄、性别、家族史等一般信息及临床资料、化验检查及治疗用药情况。
      结果  Blau综合征患者南北方分布较为均匀，无明显的地域倾向性。平均发病年龄(14.30±12.81)月，确诊年龄(55.18±36.22)月。35%的Blau综合征患者发病年龄在1岁之前，全部患者发病均在5岁之前。87.50%(63/72)患者出现肉芽肿性关节炎，65.28%(47/72) 患者出现皮疹，36.11%(26/72)患者出现眼部受累，27.78% (20/72)患者出现发热，15.28%(11/72)患者出现肺部受累。Blau综合征出现肉芽肿性关节炎表现的风险最大，其次为皮疹、眼部受累、发热。病程前25个月，出现皮疹的风险最大。病程25~84个月，发生关节炎的风险最大。Blau综合征主要的基因突变类型为p.R334Q和p.R334W，携带p.R334Q突变的患者有相对较高的发热35.71%(5/14)vs. 14.29%(1/7)，P=0.43和眼部受累42.86%(6/14)vs. 28.57% (2/7)，P=0.51发生率。在p.R334W突变的患者中，有相对较高的皮疹发生率85.71% (6/7)vs. 64.29% (9/14)，P=0.59。45例(62.50%)患者应用糖皮质激素和甲氨蝶呤的联合治疗。22例患者在糖皮质激素和甲氨蝶呤治疗的基础上加用TNF-α拮抗剂。
      结论  中国儿童Blau综合征不同临床表现出现的风险由高至低依次为关节炎、皮疹、眼部受累、发热。主要治疗药物为糖皮质激素和甲氨蝶呤，可根据情况加用生物制剂。

     

    Abstract:
      Objective  To study the demographic and clinical characteristics, correlation of genotype and phenotype and treatment of Blau syndrome to facilitate early diagnosis and timely treatment of Blau syndrome.
      Methods  Seventy-two patients with Blau syndrome from 11 centers from May 2006 to April 2022 were retrospectively analyzed, and their general information, clinical data, laboratory examination and treatment medication were collected.
      Results  The distribution of patients with Blau syndrome was uniform in geographical north and south of China, and there was no obvious gender bias. The mean age of onset was (14.30±12.81) months, and the age of diagnosis was (55.18±36.22) months. 35% of patients with Blau syndrome happened before 1 year old, and all patients developed before 5 years old. 87.50% (63/72) had granulomatous arthritis, 65.28% (47/72) had rash, 36.11% (26/72) had ocular involvement, 27.78% (20/72) had fever, and 15.28% (11/72) had pulmonary involvement. Arthritic manifestations of Blau syndrome were most at risk, followed by rash, ocular involvement, and fever.The first 25 months of the disease, the risk of developing a rash was the greatest. The risk of developing arthritis was the greatest between 25 months and 84 months. The main mutations were p.R334Q and p.R334W, and patients with p.R334Q mutation had relatively high incidence of fever (35.71%5/14 vs. 14.29%1/7, P=0.43) and ocular involvement (42.86%6/14vs. 28.57%2/7, P=0.51). There was a relatively high incidence of rash (85.71%6/7 vs. 64.29%9/14, P=0.59) in patients with the p.R334W mutation. Forty-five patients(62.50%)were treated with a combina-tion of glucocorticoid and methotrexate. Twenty-two patients were treated with tumor necrosis factor antagonist in addition to glucocorticoid and methotrexate.
      Conclusions  The risk of different clinical manifestations of Blau syndrome from high to low was arthritis, followed by rash, ocular involvement and fever. The main treatment was glucocorticoid combined with methotrexate, to which biological agents could be added.

     

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