延胡索酸水合酶缺陷型子宫平滑肌瘤合并腹膜播散性平滑肌瘤病一例报告并文献复习  

Fumarate hydratase⁃deficient uterine leiomyomas complicated with leiomyomatosis peritonealis disseminata:a report and literature review

作　　者：巫泳欣 侍丽[2] 林琼燕[1] WU Yongxin;SHI Li;LIN Qiongyan(Department of Obstetrics and Gynecology,Department of Gynaecology,Guangdong Provincial Key Laboratory of Major Obstetrics Diseases,Guangdong Provincial Clinical Research Center for Obstetrics and Gynecology,Guangdong-Hong Kong-Macao Greater Bay Area Higher Education Joint Laboratory of Maternal-Fetal Medicine,The Third Affiliated Hospital of Guangzhou Medical University,Guangzhou 510150,Guangdong,China;Department of Radiology,Guangdong Provincial Key Laboratory of Major Obstetrics Diseases,Guangdong Provincial Clinical Research Center for Obstetrics and Gynecology,The Third Affiliated Hospital of Guangzhou Medical University,Guangzhou 510150,Guangdong,China;The Third School of Clinical Medicine,Guangzhou Medical University,Guangzhou 511436,Guangdong,China)

机构地区：[1]广州医科大学附属第三医院妇科,广东省产科重大疾病重点实验室,广东省妇产疾病临床医学研究中心,粤港澳母胎医学高校联合实验室,广东广州510150 [2]广州医科大学附属第三医院放射科,广东省产科重大疾病重点实验室,广东省妇产疾病临床医学研究中心,广东广州510150 [3]广州医科大学第三临床医学院,广东广州511436

出　　处：《广州医科大学学报》2024年第6期42-48,共7页Academic Journal of Guangzhou Medical University

基　　金：广州市科学技术局项目(202201020196)。

摘　　要：报道1例腹腔镜微创手术术后发现延胡索酸水合酶缺陷型子宫平滑肌瘤合并腹膜播散性平滑肌瘤病患者,分析其临床表现、病理特点、发病机制及诊治手段,并进行相关文献复习。对于年轻子宫平滑肌瘤患者,应尽早筛查及诊治、术前做好诊断评估,术中遵循无瘤技术原则,避免播散、改善预后,术后定期观测复发及密切关注肾脏情况。本研究力求深入探讨其发病特点及机制,为患者提供更多诊治方向。

关 键 词：延胡索酸水合酶 子宫平滑肌瘤 腹膜播散性平滑肌瘤病 遗传性平滑肌瘤病和肾细胞癌综合征 

分 类 号：R737.33[医药卫生—肿瘤]