PDF(Pubmed)
Abstract：
UNASSIGNED: Blau syndrome (BS) is a monogenic disorder caused by NOD2 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.
UNASSIGNED: 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.
UNASSIGNED: 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 NOD2 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.
UNASSIGNED: Hypertension and digestive system involvement are rare manifestations of BS. Clinicians, especially rheumatologists, must be aware of atypical symptoms of BS.
UNASSIGNED: 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.
UNASSIGNED: 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 NOD2 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.
UNASSIGNED: Hypertension and digestive system involvement are rare manifestations of BS. Clinicians, especially rheumatologists, must be aware of atypical symptoms of BS.
摘要：
■布劳综合征（BS）是由NOD2基因变异引起的单基因疾病，其特征是肉芽肿性多关节炎的三联症，皮疹,还有葡萄膜炎.在三分之一至一半的BS患者中发现了非典型症状。本研究旨在描述高血压合并消化系统受累的BS患者的临床特征。
■收集并记录一例合并高血压和肝肉芽肿的BS患者的完整临床资料。我们还进行了文献检索，以查找所有报告的高血压和消化系统受累的BS病例。
■我们报道了一例19岁男性患者，在5岁时出现早发对称性多关节炎和高血压，在19岁时出现肝肉芽肿和肝硬化。通过发现NOD2基因（R334W）的变体，他被诊断为BS。通过文献综述,发现24例BS患者报告有高血压，发现38例患者有不同的消化系统表现，如肝肉芽肿，肝脾肿大,憩室炎,和肠道肉芽肿.在38例消化系统受累的BS患者中，14例经肝活检证实为肝肉芽肿。
■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，必须意识到BS的非典型症状。
■收集并记录一例合并高血压和肝肉芽肿的BS患者的完整临床资料。我们还进行了文献检索，以查找所有报告的高血压和消化系统受累的BS病例。
■我们报道了一例19岁男性患者，在5岁时出现早发对称性多关节炎和高血压，在19岁时出现肝肉芽肿和肝硬化。通过发现NOD2基因（R334W）的变体，他被诊断为BS。通过文献综述,发现24例BS患者报告有高血压，发现38例患者有不同的消化系统表现，如肝肉芽肿，肝脾肿大,憩室炎,和肠道肉芽肿.在38例消化系统受累的BS患者中，14例经肝活检证实为肝肉芽肿。
■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，必须意识到BS的非典型症状。
