Abstract：
BACKGROUND: Blau syndrome is a rare autoinflammatory disease caused by autosomal dominant mutations in the CARD15/NOD2 gene. Vascular involvement is a rare phenotype in Blau syndrome patients. In this study, we aimed to describe a 20-year- old Chinese girl with Blau syndrome complicated by renal arteritis. In addition, we summarized a literature review of published cases of vascular involvement in patients with Blau syndrome.
METHODS: We describe a 20-year-old girl who was initially misdiagnosed with juvenile idiopathic arthritis (JIA) almost 15 years prior. In October 2019, she developed renal arteritis at the age of 17 years and was eventually diagnosed with Blau syndrome. A de-novo M513T mutation was found in her gene testing. A review of the literature on patients with Blau syndrome and vasculitis showed that a total of 18 cases were reported in the past 40 years. The vast majority of them were predominantly involved medium and large vessel arteritis. Of the 18 patients included in our literature review, 14 patients had aorto-arteritis, and 4 of them had renal artery involvement. Two patients presented with renal artery stenosis, 1with a sinus of Valsalva aneurysm, and 1 with retinal vasculitis.
CONCLUSIONS: A detailed medical history inquiry and a careful physical examination are helpful for the early identification of Blau syndrome, especially for infant onset refractory JIA. Medium-and large-vessel arteritis is a rare clinical manifestation in Blau syndrome patients. Careful examination of the peripheral pulse and measurement of blood pressure at every regular visit may be helpful in the early identification of Blau syndrome-arteritis. Early diagnosis and appropriate treatment may prevent or delay the occurrence of severe symptoms in patients to improve the patient\'s quality of life.
METHODS: We describe a 20-year-old girl who was initially misdiagnosed with juvenile idiopathic arthritis (JIA) almost 15 years prior. In October 2019, she developed renal arteritis at the age of 17 years and was eventually diagnosed with Blau syndrome. A de-novo M513T mutation was found in her gene testing. A review of the literature on patients with Blau syndrome and vasculitis showed that a total of 18 cases were reported in the past 40 years. The vast majority of them were predominantly involved medium and large vessel arteritis. Of the 18 patients included in our literature review, 14 patients had aorto-arteritis, and 4 of them had renal artery involvement. Two patients presented with renal artery stenosis, 1with a sinus of Valsalva aneurysm, and 1 with retinal vasculitis.
CONCLUSIONS: A detailed medical history inquiry and a careful physical examination are helpful for the early identification of Blau syndrome, especially for infant onset refractory JIA. Medium-and large-vessel arteritis is a rare clinical manifestation in Blau syndrome patients. Careful examination of the peripheral pulse and measurement of blood pressure at every regular visit may be helpful in the early identification of Blau syndrome-arteritis. Early diagnosis and appropriate treatment may prevent or delay the occurrence of severe symptoms in patients to improve the patient\'s quality of life.
摘要：
背景：Blau综合征是一种罕见的自身炎症性疾病，由CARD15/NOD2基因的常染色体显性突变引起。血管受累是Blau综合征患者的罕见表型。在这项研究中,我们的目的是描述一个20岁的中国女孩Blau综合征并发肾动脉炎。此外,我们总结了已发表的Blau综合征患者血管受累病例的文献综述.
方法：我们描述了一个20岁的女孩，她在15年前最初被误诊为幼年特发性关节炎（JIA）。2019年10月，她在17岁时患上了肾动脉炎，最终被诊断为布劳综合征。在她的基因测试中发现了一个从头的M513T突变。回顾有关Blau综合征和血管炎患者的文献显示，在过去40年中总共报告了18例。其中绝大多数主要涉及中、大血管动脉炎。在我们的文献综述中纳入的18例患者中，14例患者有主动脉动脉炎，其中4例有肾动脉受累。两名患者出现肾动脉狭窄，1有Valsalva动脉瘤窦，1例视网膜血管炎.
结论：详细的病史查询和仔细的体格检查有助于Blau综合征的早期识别，尤其是婴儿发病难治性JIA。中、大血管动脉炎是布劳综合征患者罕见的临床表现。每次定期就诊时仔细检查外周脉搏和测量血压可能有助于早期发现布劳综合征-动脉炎。早期诊断和适当治疗可预防或延缓患者严重症状的发生,提高患者的生活质量。
方法：我们描述了一个20岁的女孩，她在15年前最初被误诊为幼年特发性关节炎（JIA）。2019年10月，她在17岁时患上了肾动脉炎，最终被诊断为布劳综合征。在她的基因测试中发现了一个从头的M513T突变。回顾有关Blau综合征和血管炎患者的文献显示，在过去40年中总共报告了18例。其中绝大多数主要涉及中、大血管动脉炎。在我们的文献综述中纳入的18例患者中，14例患者有主动脉动脉炎，其中4例有肾动脉受累。两名患者出现肾动脉狭窄，1有Valsalva动脉瘤窦，1例视网膜血管炎.
结论：详细的病史查询和仔细的体格检查有助于Blau综合征的早期识别，尤其是婴儿发病难治性JIA。中、大血管动脉炎是布劳综合征患者罕见的临床表现。每次定期就诊时仔细检查外周脉搏和测量血压可能有助于早期发现布劳综合征-动脉炎。早期诊断和适当治疗可预防或延缓患者严重症状的发生,提高患者的生活质量。
