节点文献
Blau综合征一例
A Case Report of Blau Syndrome
【摘要】 Blau综合征是一种罕见的遗传性疾病，其特征为肉芽肿性关节炎、葡萄膜炎和皮炎三联征。患者通常表现出多系统受累，包括眼部、皮肤和骨骼异常。Blau综合征发病率极低，全球范围内儿童中的患病率不到百万分之一。本次多学科会诊为一例21岁的青年女性患者，病程始于儿童时期，表现为患者多关节肿痛、皮肤病变、眼睑分泌物增多，确诊为葡葡膜炎，并伴高血压和动脉异常等。患者自6岁开始接受激素治疗，并尝试了多种药物治疗，在改善关节肿痛和眼部症状方面有一定疗效。通过罕见病多学科会诊，以明确患者的分子诊断、多系统评估、治疗方案的选择与制订。同时通过本病例的报道，提高临床医师对Blau综合征诊断和综合治疗策略的认知，从而提高罕见病的管理和治疗水平。
【Abstract】 Blau syndrome is a rare genetic disorder characterized by the a mix of granulomatous arthritis, uveitis, and dermatitis. Patients typically manifest multisystem involvement, including ocular, skin, and skeletal abnormalities. Blau syndrome is extremely rare, with a global incidence of less than one in a million among children. In this multidisciplinary consultation, we present a case of a 21-year-old young female patient having multisystemic involvement since early childhood. She was presented with multiple joint swelling, skin lesions, increased eye discharge, and accompanied by hypertension and arterial abnormalities, and received a diagnosis of uveitis. The patient had been receiving steroid treatment since the age of 6 and has tried various medications, with some improvement in joint swelling and ocular symptoms. Through this rare disease multidisciplinary consultation, we aim to provide guidance in the molecular diagnosis of the patient, multisystem assessment, and the selection and formulation of treatment plans. Additionally, we hope that by reporting this case, clinical physicians can gain a better understanding of the diagnosis and comprehensive treatment strategies for Blau syndrome, thereby improving the management and treatment of rare diseases.
【Key words】 Blau syndrome； joint swelling； uveitis； steroid treatment；
- 【文献出处】 罕见病研究 ,Journal of Rare Diseases , 编辑部邮箱 ,2023年04期
- 【分类号】R596
- 【下载频次】21