结节性硬化症并发肾血管平滑肌脂肪瘤:病例系列和文献回顾。

Mansour Mbengue, Bede Bigirimana, Seynabou Diagne, Abdou Niang
{"title":"结节性硬化症并发肾血管平滑肌脂肪瘤:病例系列和文献回顾。","authors":"Mansour Mbengue,&nbsp;Bede Bigirimana,&nbsp;Seynabou Diagne,&nbsp;Abdou Niang","doi":"10.5414/CNCS110768","DOIUrl":null,"url":null,"abstract":"<p><p>Tuberous sclerosis complex (TSC) is a genetic disease characterized by the growth of numerous noncancerous tumors in many parts of the body mainly the skin, brain, kidneys. The prevalence of the disease is estimated to be 7 - 12 in 100,000. We report the cases of two black African women diagnosed with TSC at age 25 and 54. They both had renal angiomyolipoma, facial angiofibroma and diffuse hypochromic macules. The older patient remained stable for the 11 years following her diagnosis. But, in the second patient, the disease was more severe with a giant angiomyolipoma, complicated by renal intracystic hemorrhage leading to the patient's death 1 month after diagnosis. Renal involvement can be life-threatening in patients with TSC. The risk of fatal bleeding increases with the size of the tumor. The mTOR inhibitors and angioembolization can improve the prognosis of this disease.</p>","PeriodicalId":10398,"journal":{"name":"Clinical Nephrology. Case Studies","volume":"11 ","pages":"29-34"},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990422/pdf/","citationCount":"0","resultStr":"{\"title\":\"Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review.\",\"authors\":\"Mansour Mbengue,&nbsp;Bede Bigirimana,&nbsp;Seynabou Diagne,&nbsp;Abdou Niang\",\"doi\":\"10.5414/CNCS110768\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Tuberous sclerosis complex (TSC) is a genetic disease characterized by the growth of numerous noncancerous tumors in many parts of the body mainly the skin, brain, kidneys. The prevalence of the disease is estimated to be 7 - 12 in 100,000. We report the cases of two black African women diagnosed with TSC at age 25 and 54. They both had renal angiomyolipoma, facial angiofibroma and diffuse hypochromic macules. The older patient remained stable for the 11 years following her diagnosis. But, in the second patient, the disease was more severe with a giant angiomyolipoma, complicated by renal intracystic hemorrhage leading to the patient's death 1 month after diagnosis. Renal involvement can be life-threatening in patients with TSC. The risk of fatal bleeding increases with the size of the tumor. The mTOR inhibitors and angioembolization can improve the prognosis of this disease.</p>\",\"PeriodicalId\":10398,\"journal\":{\"name\":\"Clinical Nephrology. Case Studies\",\"volume\":\"11 \",\"pages\":\"29-34\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9990422/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Nephrology. Case Studies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5414/CNCS110768\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical Nephrology. Case Studies","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5414/CNCS110768","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

结节性硬化症(TSC)是一种遗传性疾病,其特征是在身体的许多部位(主要是皮肤、大脑、肾脏)生长许多非癌性肿瘤。据估计,该疾病的患病率为10万分之7至12。我们报告了两例黑人非洲妇女在25岁和54岁诊断为TSC。患者均有肾血管平滑肌脂肪瘤、面部血管纤维瘤及弥漫性低色斑。老年患者在诊断后的11年里病情保持稳定。但是,在第二位患者中,病情更为严重,出现了巨大的血管平滑肌脂肪瘤,并发肾囊内出血,导致患者在诊断后1个月死亡。肾受累可危及TSC患者的生命。致命出血的风险随着肿瘤的大小而增加。mTOR抑制剂和血管栓塞治疗可改善该病的预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

摘要图片

摘要图片

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review.

Tuberous sclerosis complex (TSC) is a genetic disease characterized by the growth of numerous noncancerous tumors in many parts of the body mainly the skin, brain, kidneys. The prevalence of the disease is estimated to be 7 - 12 in 100,000. We report the cases of two black African women diagnosed with TSC at age 25 and 54. They both had renal angiomyolipoma, facial angiofibroma and diffuse hypochromic macules. The older patient remained stable for the 11 years following her diagnosis. But, in the second patient, the disease was more severe with a giant angiomyolipoma, complicated by renal intracystic hemorrhage leading to the patient's death 1 month after diagnosis. Renal involvement can be life-threatening in patients with TSC. The risk of fatal bleeding increases with the size of the tumor. The mTOR inhibitors and angioembolization can improve the prognosis of this disease.

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
期刊最新文献
Primary Sjögren's syndrome with renal tubular acidosis and central pontine myelinolysis: An unusual triad. Recovering from a renal vascular catastrophe: Case report. A rare case of long-term dialysis catheter-associated Agromyces mediolanus bacteremia: A case report and literature review. Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review. De novo collapsing glomerulopathy after kidney transplantation: Description of two cases.
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1