郑义, 贾韬, 延聪, 张欣悦, 杜雪珊, 周彤, 宋相瑾, 耿松梅. 8例Blau综合征/早发型结节病临床表现、病理特征及基因突变的多样性分析[J]. 罕见病研究, 2023, 2(2): 170-177. DOI: 10.12376/j.issn.2097-0501.2023.02.005
引用本文: 郑义, 贾韬, 延聪, 张欣悦, 杜雪珊, 周彤, 宋相瑾, 耿松梅. 8例Blau综合征/早发型结节病临床表现、病理特征及基因突变的多样性分析[J]. 罕见病研究, 2023, 2(2): 170-177. DOI: 10.12376/j.issn.2097-0501.2023.02.005
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ZHENG Yi, JIA Tao, YAN Cong, ZHANG Xinyue, DU Xueshan, ZHOU Tong, SONG Xiangjin, GENG Songmei. Analysis of 8 Cases of Blau Syndrome/Early-onset Sarcoidosis——Clinical Manifestations, Histopathology Features and Gene Mutation Diversity[J]. Journal of Rare Diseases, 2023, 2(2): 170-177. DOI: 10.12376/j.issn.2097-0501.2023.02.005
Citation: ZHENG Yi, JIA Tao, YAN Cong, ZHANG Xinyue, DU Xueshan, ZHOU Tong, SONG Xiangjin, GENG Songmei. Analysis of 8 Cases of Blau Syndrome/Early-onset Sarcoidosis——Clinical Manifestations, Histopathology Features and Gene Mutation Diversity[J]. Journal of Rare Diseases, 2023, 2(2): 170-177. DOI: 10.12376/j.issn.2097-0501.2023.02.005
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8例Blau综合征/早发型结节病临床表现、病理特征及基因突变的多样性分析

Analysis of 8 Cases of Blau Syndrome/Early-onset Sarcoidosis——Clinical Manifestations, Histopathology Features and Gene Mutation Diversity

    摘要
  • 摘要:
      目的  总结Blau综合征/早发型结节病的临床表现、病理特征及基因突变多样性。
      方法  收集2011年1月至2022年12月我院诊治的8例Blau综合征/早发型结节病患者一般资料及临床表现、辅助检查等结果，总结分析其特征及多样性。
      结果  8例患者中，男4例，女4例，发病年龄3~18月龄。7例(87.5%)患者以皮疹为首发症状。6例(75.0%)患者皮损表现为苔藓样丘疹，2例表现为红斑样皮损。有3例(37.5%)出现关节炎，2例(25.0%)出现葡萄膜炎等眼部炎症，4例(50.0%)出现间断性发热，3例(37.5%)出现神经系统、呼吸系统症状及高血压。8例患者皮肤组织病理均表现为非干酪样肉芽肿形成。血清学指标中，CRP和TNF-α在治疗前均显著升高，而经过糖皮质激素治疗，5例患者IL-6、IL-8、TNF-α及IL-2受体(IL-2R)显著下降。基因检测结果显示，7例患者中4例为p.R334W(c.1000C＞T)突变，1例为p.H313R(c.938A＞G)和p.R471C(c.1411C＞T)双突变，1例为p. 476_477del(c.1427_1429delcct)。
      结论  Blau综合征/早发型结节病在临床表现、组织病理及基因突变具有显著特征，但也具有多样性。

     

    Abstract:
      Objective  To summarize the clinical manifestations, pathological features and gene mutation diversity of Blau syndrome/early-onset sarcoidosis.
      Methods  We collected general data, clinical manifestations, and auxiliary examination results from 8 patients who were diagnosed of Blau syndrome/early-onset sarcoidosis and treated in our hospital from January 2011 to December 2022, and then summarized and analyzed their characteristics and diversity.
      Results  Among the 8 patients, 4 were males and 4 were females. The onset age was 3 to 8 months old. Rash was the first symptom in 7 patients(87.5%). 6 patients(75.0%) had papules and erythema.3 cases(37.5%) had arthritis. 2 cases(25.0%) had uveitis and other eye inflammation. 4 cases (50.0%) also showed intermittent fever. 3 cases (37.5%) showed symptoms in nerve and respiratory system, and hypertension respectively. The skin histopathology of 8 patients showed non-caseous granuloma formation. In laboratory detection, CRP and TNF-α were significantly increased before treatment, while IL-6, IL-8, TNF-α and IL-2 receptor(IL-2R) were significantly decreased in 5 patients after glucocorticoid therapy. The results of genetic testing showed that 4 of the 7 patients had p.R334W(c.1000C > T) mutation, 1 had p.H313R(c.938A > G) and p.R471C(c.1411C > T)double mutation, and 1 had p.476_477del (c.1427_1429delcct).
      Conclusions  Blau syndrome/early-onset sarcoidosis has significant features in clinical manifestations, histopathology and gene mutation, but it also has diversity.

     

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