摘要
目的 结合国内外文献,对肝豆状核变性(WD)的基因特点、发病原因、妊娠期管理和携带者处理等进行复习和探讨。方法 分析重庆医科大学附属第一医院发现的1例孕晚期病情恶化且突发急性脐动脉栓塞WD患者情况,总结国内外相关文献进行研究探讨。结果 该WD孕妇经产前诊断证实为ATP7Bc.2975C>T纯合突变,孕期间断服用硫酸锌治疗,之后于35周发生言语障碍、双手震颤和脐动脉栓塞。发病机制可能为体内铜离子代谢异常在大脑和脐动脉过量沉积,导致神经功能障碍和凝血系统异常激活。患儿为WD携带者,持续随访一年身体健康。结论 孕前应注重孕妇的基因筛查,一经发现WD即加强产检,尽早治疗。孕前和孕期均应规律驱铜治疗,锌剂驱铜治疗较为安全,是否使用青霉胺尚存在争议。对于WD携带者的随访及其治疗有待规范统一。
Objective Based on the domestic and foreign literature, to review and discuss the genetic characteristics, pathogenesis, pregnancy management, and carrier management of Wilson’s disease(WD).Methods A case of WD with acute umbilical artery embolism in the third trimester of pregnancy found in the First Affiliated Hospital of Chongqing Medical University was analyzed, and relevant domestic and foreign literatures were summarized for research and discussion.Results The WD pregnant was confirmed to have a homozygous mutation of ATP7Bc.2975C>T by prenatal diagnosis.Zinc sulfate treatment was discontinued during pregnancy.After 35 weeks, the pregnant developed speech disturbance, hand tremor, and umbilical artery embolism.The pathogenesis may be excessive deposition of abnormal copper ion metabolism in the brain and umbilical arteries, resulting in neurological dysfunction and abnormal activation of the coagulation system.The child patient was a WD carrier and was healthy for one year of continuous follow-up.Conclusion Pre-pregnancy should pay attention to the genetic screening of pregnant women, once WD is found, the obstetric examination should be strengthened, and treatment should be done as soon as possible.Copper-flooding therapy should be performed regularly before and during pregnancy.Zinc-based copper-flooding therapy is relatively safe.Whether or not to use penicillamine is still controversial.The follow-up and treatment of WD carriers need to be standardized and unified.
作者
王蓉
李庆姝
张利
何英第
乔娟
李俊男
漆洪波
WANG Rong;LI Qingshu;ZHANG Li;HE Yingdi;QIAO Juan;LI Junnan;QI Hongbo(The First Clinical College of Chongqing Medical University,Chongqing 400042,China;Department of Pathology,Chongqing Medical University,Chongqing 400042,China;Department of Obstetrics,the First Affiliated Hospital of Chongqing Medical University/Chongqing Fetal Medicine Center,Chongqing 400042,China)
出处
《重庆医学》
CAS
2023年第3期353-356,共4页
Chongqing medicine
基金
国家自然科学基金项目(81901508)。
关键词
肝豆状核变性
妊娠
脐动脉血栓
Wilson’s disease
pregnancy
umbilical artery thrombosis