Renal involvement in genetic neurocutaneous syndromes.

IF 1.1 4区 医学 Q3 UROLOGY & NEPHROLOGY Clinical nephrology Pub Date : 2024-09-06 DOI:10.5414/CN111425
Hassan Izzedine, Farhana Begum, Simon Kashfi, Morgan Rouprêt, Alina Bridges, Kenar D Jhaveri
{"title":"Renal involvement in genetic neurocutaneous syndromes.","authors":"Hassan Izzedine, Farhana Begum, Simon Kashfi, Morgan Rouprêt, Alina Bridges, Kenar D Jhaveri","doi":"10.5414/CN111425","DOIUrl":null,"url":null,"abstract":"<p><p>Phakomatoses, otherwise known as neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, and central nervous system. In addition to the common neurocutaneous syndromes (neurofibromatosis, tuberous sclerosis complex, Sturge Weber syndrome, Von Hippel-Lindau syndrome), a large number of relatively uncommon phakomatoses have been described in the literature. Cardiovascular, pulmonary, and musculoskeletal systems involvement in these disorders have been reported. Data on kidney involvement is not well described. This review discusses renal involvement in neurocutaneous syndromes. This includes the association with renal masses (cyst, angiomyolipoma, benign or malignant tumor), known vasculopathy, glomerular or tubular disorders, urinary tract anomalies, hypertension, and chronic kidney disease.</p>","PeriodicalId":10396,"journal":{"name":"Clinical nephrology","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical nephrology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5414/CN111425","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Phakomatoses, otherwise known as neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, and central nervous system. In addition to the common neurocutaneous syndromes (neurofibromatosis, tuberous sclerosis complex, Sturge Weber syndrome, Von Hippel-Lindau syndrome), a large number of relatively uncommon phakomatoses have been described in the literature. Cardiovascular, pulmonary, and musculoskeletal systems involvement in these disorders have been reported. Data on kidney involvement is not well described. This review discusses renal involvement in neurocutaneous syndromes. This includes the association with renal masses (cyst, angiomyolipoma, benign or malignant tumor), known vasculopathy, glomerular or tubular disorders, urinary tract anomalies, hypertension, and chronic kidney disease.

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
遗传性神经皮肤综合征的肾脏受累。
角膜病又称神经皮肤综合征,是一组异质性的罕见遗传疾病,主要影响胚胎外胚层的结构,即皮肤、眼球、视网膜和中枢神经系统。除了常见的神经皮肤综合征(神经纤维瘤病、结节性硬化综合征、Sturge Weber 综合征、Von Hippel-Lindau 综合征)外,文献中还描述了大量相对不常见的噬皮综合征。有报道称这些疾病会累及心血管、肺部和肌肉骨骼系统。而有关肾脏受累的数据则不多。本综述将讨论神经皮肤综合征的肾脏受累情况。这包括与肾脏肿块(囊肿、血管脂肪瘤、良性或恶性肿瘤)、已知的血管病变、肾小球或肾小管疾病、尿路异常、高血压和慢性肾病的关联。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Clinical nephrology
Clinical nephrology 医学-泌尿学与肾脏学
CiteScore
2.10
自引率
9.10%
发文量
138
审稿时长
4-8 weeks
期刊介绍: Clinical Nephrology appears monthly and publishes manuscripts containing original material with emphasis on the following topics: prophylaxis, pathophysiology, immunology, diagnosis, therapy, experimental approaches and dialysis and transplantation.
期刊最新文献
The efficacy of sacubitril/valsartan in patients receiving peritoneal dialysis with diabetes and heart failure with preserved ejection fraction. Current use, training, and barriers in point-of-care ultrasound in nephrology: A national survey of VA medical centers. Idiopathic nodular glomerulosclerosis: A case report and literature review. Kidney transplantation in multiple myeloma in 2023: A short review. Comparison of the efficacy of educational materials for chronic kidney disease during outpatient waiting time.
×
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