Denys-Drash综合征的管理:基于国际调查的病例系列。

Clinical Nephrology. Case Studies Pub Date : 2018-11-12 eCollection Date: 2018-01-01 DOI:10.5414/CNCS109515
Laurence Gariépy-Assal, Rodney D Gilbert, Aleksas Žiaugra, Bethany Joy Foster
{"title":"Denys-Drash综合征的管理:基于国际调查的病例系列。","authors":"Laurence Gariépy-Assal,&nbsp;Rodney D Gilbert,&nbsp;Aleksas Žiaugra,&nbsp;Bethany Joy Foster","doi":"10.5414/CNCS109515","DOIUrl":null,"url":null,"abstract":"<p><p>Denys-Drash syndrome (DDS), a condition caused by mutations in the tumor-suppressor gene WT-1, is associated with a triad of disorders: ambiguous genitalia, nephrotic syndrome leading to end-stage renal disease (ESRD), and Wilms' tumor. Given the variable disease course, management is challenging. We aimed to describe the evolution of DDS and the range of management strategies by summarizing the clinical courses of cases collected from a questionnaire sent to the international pediatric nephrology community. 15 respondents provided information on 23 patients; 21 DDS cases were confirmed and analyzed. At DDS diagnosis, 6 patients had a Wilms' tumor (group A) and 15 had no Wilms' tumor (group B). Three group A patients had unilateral nephrectomy. Two of these still had renal function, with no second tumor, at 36 months and 16 years of age, and 1 progressed to ESRD. Three had bilateral nephrectomy before ESRD. Eight group B patients progressed to ESRD, all of whom later had all renal tissue removed. Two group B patients subsequently developed a unilateral Wilms' tumor and had bilateral nephrectomy pre-ESRD. Three had bilateral nephrectomy prior to reaching ESRD without ever having a Wilms' tumor. Two group B patients remained tumor-free with renal function at last follow-up. Two main management approaches were taken: pre-emptive nephrectomy prior to ESRD and conservative surveillance. Based on the known risks associated with ESRD in infants and young children, the variable course of DDS, and the relatively good prognosis associated with Wilms' tumor, a guiding principle of preservation of renal function is most logical. Most would advocate bilateral prophylactic nephrectomy after ESRD is reached due to the high tumor risk, which is likely heightened after transplant.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":"6 ","pages":"36-44"},"PeriodicalIF":0.0000,"publicationDate":"2018-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236398/pdf/","citationCount":"9","resultStr":"{\"title\":\"Management of Denys-Drash syndrome: A case series based on an international survey.\",\"authors\":\"Laurence Gariépy-Assal,&nbsp;Rodney D Gilbert,&nbsp;Aleksas Žiaugra,&nbsp;Bethany Joy Foster\",\"doi\":\"10.5414/CNCS109515\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Denys-Drash syndrome (DDS), a condition caused by mutations in the tumor-suppressor gene WT-1, is associated with a triad of disorders: ambiguous genitalia, nephrotic syndrome leading to end-stage renal disease (ESRD), and Wilms' tumor. Given the variable disease course, management is challenging. We aimed to describe the evolution of DDS and the range of management strategies by summarizing the clinical courses of cases collected from a questionnaire sent to the international pediatric nephrology community. 15 respondents provided information on 23 patients; 21 DDS cases were confirmed and analyzed. At DDS diagnosis, 6 patients had a Wilms' tumor (group A) and 15 had no Wilms' tumor (group B). Three group A patients had unilateral nephrectomy. Two of these still had renal function, with no second tumor, at 36 months and 16 years of age, and 1 progressed to ESRD. Three had bilateral nephrectomy before ESRD. Eight group B patients progressed to ESRD, all of whom later had all renal tissue removed. Two group B patients subsequently developed a unilateral Wilms' tumor and had bilateral nephrectomy pre-ESRD. Three had bilateral nephrectomy prior to reaching ESRD without ever having a Wilms' tumor. Two group B patients remained tumor-free with renal function at last follow-up. Two main management approaches were taken: pre-emptive nephrectomy prior to ESRD and conservative surveillance. Based on the known risks associated with ESRD in infants and young children, the variable course of DDS, and the relatively good prognosis associated with Wilms' tumor, a guiding principle of preservation of renal function is most logical. Most would advocate bilateral prophylactic nephrectomy after ESRD is reached due to the high tumor risk, which is likely heightened after transplant.</p>\",\"PeriodicalId\":10398,\"journal\":{\"name\":\"Clinical Nephrology. Case Studies\",\"volume\":\"6 \",\"pages\":\"36-44\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-11-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236398/pdf/\",\"citationCount\":\"9\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Nephrology. Case Studies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5414/CNCS109515\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2018/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Nephrology. Case Studies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5414/CNCS109515","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2018/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 9

摘要

Denys-Drash综合征(DDS)是一种由肿瘤抑制基因WT-1突变引起的疾病,与三种疾病相关:生殖器模糊、肾病综合征导致终末期肾病(ESRD)和Wilms肿瘤。鉴于多变的病程,管理是具有挑战性的。我们的目的是描述DDS的演变和管理策略的范围,通过总结从发给国际儿科肾脏病学界的问卷调查中收集的病例的临床过程。15名应答者提供了23名患者的信息;对21例DDS病例进行确诊分析。DDS诊断有肾母细胞瘤6例(a组),无肾母细胞瘤15例(B组)。a组3例行单侧肾切除术。其中2例在36个月和16岁时仍有肾功能,没有第二肿瘤,1例进展为ESRD。其中3例在ESRD前行双侧肾切除术。8例B组患者进展为ESRD,所有患者随后全部切除肾组织。两名B组患者随后发生单侧肾母细胞瘤,并在esrd前行双侧肾切除术。其中三名患者在到达终末期肾病之前进行了双侧肾切除术,但从未患过肾母细胞瘤。最后随访时,B组2例患者无肿瘤,肾功能正常。采取了两种主要的治疗方法:ESRD前的预防性肾切除术和保守监测。基于已知的婴幼儿ESRD相关风险、DDS病程多变、Wilms肿瘤预后较好等因素,以保存肾功能为指导原则是最符合逻辑的。由于肿瘤风险高,移植后风险可能会增加,大多数人主张在达到ESRD后进行双侧预防性肾切除术。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Management of Denys-Drash syndrome: A case series based on an international survey.

Management of Denys-Drash syndrome: A case series based on an international survey.

Denys-Drash syndrome (DDS), a condition caused by mutations in the tumor-suppressor gene WT-1, is associated with a triad of disorders: ambiguous genitalia, nephrotic syndrome leading to end-stage renal disease (ESRD), and Wilms' tumor. Given the variable disease course, management is challenging. We aimed to describe the evolution of DDS and the range of management strategies by summarizing the clinical courses of cases collected from a questionnaire sent to the international pediatric nephrology community. 15 respondents provided information on 23 patients; 21 DDS cases were confirmed and analyzed. At DDS diagnosis, 6 patients had a Wilms' tumor (group A) and 15 had no Wilms' tumor (group B). Three group A patients had unilateral nephrectomy. Two of these still had renal function, with no second tumor, at 36 months and 16 years of age, and 1 progressed to ESRD. Three had bilateral nephrectomy before ESRD. Eight group B patients progressed to ESRD, all of whom later had all renal tissue removed. Two group B patients subsequently developed a unilateral Wilms' tumor and had bilateral nephrectomy pre-ESRD. Three had bilateral nephrectomy prior to reaching ESRD without ever having a Wilms' tumor. Two group B patients remained tumor-free with renal function at last follow-up. Two main management approaches were taken: pre-emptive nephrectomy prior to ESRD and conservative surveillance. Based on the known risks associated with ESRD in infants and young children, the variable course of DDS, and the relatively good prognosis associated with Wilms' tumor, a guiding principle of preservation of renal function is most logical. Most would advocate bilateral prophylactic nephrectomy after ESRD is reached due to the high tumor risk, which is likely heightened after transplant.

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