妊娠相关的非典型溶血性尿毒症综合征:罕见的MCP基因突变和成功的依曲单抗治疗的病例报告

Alex Domínguez-Vargas, Fanny Ariño, Diana Silva, Henry J González-Torres, Gustavo Aroca-Martínez, Eduardo Egea, Carlos G. Musso
{"title":"妊娠相关的非典型溶血性尿毒症综合征:罕见的MCP基因突变和成功的依曲单抗治疗的病例报告","authors":"Alex Domínguez-Vargas, Fanny Ariño, Diana Silva, Henry J González-Torres, Gustavo Aroca-Martínez, Eduardo Egea, Carlos G. Musso","doi":"10.1055/a-2164-8438","DOIUrl":null,"url":null,"abstract":"Pregnancy-associated atypical hemolytic uremic syndrome (P-aHUS) is a rare condition characterised by microangiopathic haemolytic anaemia and kidney injury from thrombotic microangiopathy. P-aHUS occurs in approximately 1 in 25,000 pregnancies and is strongly related to complement dysregulation and pregnancy-related disorders, such as preeclampsia, eclampsia, and hemolysis, elevated liver enzymes, low platelet (HELLP) syndrome, resulting in adverse perinatal and fetal outcomes. Complement dysregulation in P-aHUS is commonly attributed to genetic mutations or autoantibodies affecting complement factors, including CFH, CFI, and MCP. We present a case of a 25-year-old primigravida who experienced severe preeclampsia and HELLP syndrome followed by the development of complicated P-aHUS during the early postpartum period. The patient exhibited severe clinical manifestations, including hypertensive emergency, central nervous system involvement, renal impairment, and microangiopathic hemolytic anemia. Timely initiation of eculizumab therapy resulted in successful disease remission. Further genetic analysis revealed a likely rare pathogenic MCP gene variant.","PeriodicalId":368060,"journal":{"name":"American Journal of Perinatology Reports","volume":"31 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pregnancy-Associated Atypical Hemolytic Uremic Syndrome: A Case Report with a rare MCP Gene Mutation and Successful Eculizumab Treatment\",\"authors\":\"Alex Domínguez-Vargas, Fanny Ariño, Diana Silva, Henry J González-Torres, Gustavo Aroca-Martínez, Eduardo Egea, Carlos G. Musso\",\"doi\":\"10.1055/a-2164-8438\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Pregnancy-associated atypical hemolytic uremic syndrome (P-aHUS) is a rare condition characterised by microangiopathic haemolytic anaemia and kidney injury from thrombotic microangiopathy. P-aHUS occurs in approximately 1 in 25,000 pregnancies and is strongly related to complement dysregulation and pregnancy-related disorders, such as preeclampsia, eclampsia, and hemolysis, elevated liver enzymes, low platelet (HELLP) syndrome, resulting in adverse perinatal and fetal outcomes. Complement dysregulation in P-aHUS is commonly attributed to genetic mutations or autoantibodies affecting complement factors, including CFH, CFI, and MCP. We present a case of a 25-year-old primigravida who experienced severe preeclampsia and HELLP syndrome followed by the development of complicated P-aHUS during the early postpartum period. The patient exhibited severe clinical manifestations, including hypertensive emergency, central nervous system involvement, renal impairment, and microangiopathic hemolytic anemia. Timely initiation of eculizumab therapy resulted in successful disease remission. Further genetic analysis revealed a likely rare pathogenic MCP gene variant.\",\"PeriodicalId\":368060,\"journal\":{\"name\":\"American Journal of Perinatology Reports\",\"volume\":\"31 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"American Journal of Perinatology Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/a-2164-8438\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Perinatology Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/a-2164-8438","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

妊娠相关非典型溶血性尿毒症综合征(P-aHUS)是一种罕见的疾病,其特征是微血管病性溶血性贫血和血栓性微血管病引起的肾损伤。P-aHUS发生率约为1 / 25,000,与补体失调和妊娠相关疾病密切相关,如先兆子痫、子痫、溶血、肝酶升高、低血小板(HELLP)综合征,导致不良的围产期和胎儿结局。P-aHUS的补体失调通常归因于影响补体因子的基因突变或自身抗体,包括CFH、CFI和MCP。我们提出了一个25岁的初产妇谁经历了严重的先兆子痫和HELLP综合征,随后发展为复杂的P-aHUS在产后早期。患者表现出严重的临床表现,包括高血压急症、中枢神经系统受累、肾脏损害和微血管病溶血性贫血。及时开始eculizumab治疗导致疾病成功缓解。进一步的遗传分析显示可能是一种罕见的致病性MCP基因变异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pregnancy-Associated Atypical Hemolytic Uremic Syndrome: A Case Report with a rare MCP Gene Mutation and Successful Eculizumab Treatment
Pregnancy-associated atypical hemolytic uremic syndrome (P-aHUS) is a rare condition characterised by microangiopathic haemolytic anaemia and kidney injury from thrombotic microangiopathy. P-aHUS occurs in approximately 1 in 25,000 pregnancies and is strongly related to complement dysregulation and pregnancy-related disorders, such as preeclampsia, eclampsia, and hemolysis, elevated liver enzymes, low platelet (HELLP) syndrome, resulting in adverse perinatal and fetal outcomes. Complement dysregulation in P-aHUS is commonly attributed to genetic mutations or autoantibodies affecting complement factors, including CFH, CFI, and MCP. We present a case of a 25-year-old primigravida who experienced severe preeclampsia and HELLP syndrome followed by the development of complicated P-aHUS during the early postpartum period. The patient exhibited severe clinical manifestations, including hypertensive emergency, central nervous system involvement, renal impairment, and microangiopathic hemolytic anemia. Timely initiation of eculizumab therapy resulted in successful disease remission. Further genetic analysis revealed a likely rare pathogenic MCP gene variant.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信