Yao Fangling, Tan Bei, Wu Di, Shen Min
Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences & Peking Union Medical College, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH), Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, China.
Department of Rheumatology and Immunology, Zhuzhou Central Hospital, Zhuzhou, China.
Front Pediatr. 2023 Jul 27;11:1063222. doi: 10.3389/fped.2023.1063222. eCollection 2023.
Blau syndrome (BS) is a monogenic disorder caused by gene variants characterized by the triad of granulomatous polyarthritis, rash, and uveitis. Atypical symptoms were recognized in one-third to one-half of individuals with BS. This study aims to describe the clinical features of BS patients with hypertension and digestive system involvement.
The complete clinical data of a BS patient complicated with hypertension and hepatic granulomas were collected and documented. We also performed a literature search to find all reported cases of BS with hypertension and digestive system involvement.
We reported the case of a 19-year-old man who presented with early onset symmetric polyarthritis and hypertension at age 5 and hepatic granulomas and cirrhosis at age 19. He was diagnosed with BS by the finding of a variant of the gene (R334W). Through the literature review, 24 patients with BS were found who were reported to have hypertension, and 38 patients were found who had different digestive system manifestations such as hepatic granulomas, hepatosplenomegaly, diverticulitis, and intestinal granuloma. Among the 38 BS patients with digestive system involvement, 14 had hepatic granulomas proven by liver biopsy.
Hypertension and digestive system involvement are rare manifestations of BS. Clinicians, especially rheumatologists, must be aware of atypical symptoms of BS.
布劳综合征（BS）是一种由基因变异引起的单基因疾病，其特征为肉芽肿性多关节炎、皮疹和葡萄膜炎三联征。三分之一至二分之一的BS患者存在非典型症状。本研究旨在描述合并高血压和消化系统受累的BS患者的临床特征。
收集并记录了1例合并高血压和肝脏肉芽肿的BS患者的完整临床资料。我们还进行了文献检索，以查找所有报道的合并高血压和消化系统受累的BS病例。
我们报告了1例19岁男性患者的病例，该患者5岁时出现早发性对称性多关节炎和高血压，19岁时出现肝脏肉芽肿和肝硬化。通过检测到基因（R334W）变异，他被诊断为BS。通过文献综述，发现24例BS患者有高血压报道，38例患者有不同的消化系统表现，如肝脏肉芽肿、肝脾肿大、憩室炎和肠道肉芽肿。在38例有消化系统受累的BS患者中，14例经肝活检证实有肝脏肉芽肿。
高血压和消化系统受累是BS的罕见表现。临床医生，尤其是风湿病学家，必须了解BS的非典型症状。
