Anomalies héréditaires des transports tubulaires en dehors du diabète insipide

D. Prié
{"title":"Anomalies héréditaires des transports tubulaires en dehors du diabète insipide","authors":"D. Prié","doi":"10.1016/j.emcnep.2005.04.001","DOIUrl":null,"url":null,"abstract":"<div><p>These past years, many causes and mechanisms of inherited renal kidney diseases have been identified. The study of the mutations identified has improved our knowledge in renal tubule physiology. The identification of new proteins and the disruption of the genes encoding these proteins in mouse unravelled the cause of diseases described many years ago. The physiopathology of most tubular disorders is now known. The accurate analysis of patients' phenotype, based on the knowledge in renal physiology, allowed identifying the tubular part(s) involved in the abnormalities observed. We briefly summarise the main functions of each tubule segment, and describe the inherited disorders currently identified together with their pathophysiology. We describe the dysfunctions of proximal tubule (glycosuria, renal phosphate leak, aminoaciduria, tubular acidosis, urate excretion), thick ascending limb (Bartter's syndrome, hypercalciuria, hypermagnesuria…), distal tubule (Gitelman's syndrome, Gordon's syndrome…), collecting duct (distal tubular acidosis, salt wasting or retention syndrome…). Diabetes insipidus is not included.</p></div>","PeriodicalId":100433,"journal":{"name":"EMC - Néphrologie","volume":"2 2","pages":"Pages 46-60"},"PeriodicalIF":0.0000,"publicationDate":"2005-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcnep.2005.04.001","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"EMC - Néphrologie","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1638624805000046","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

These past years, many causes and mechanisms of inherited renal kidney diseases have been identified. The study of the mutations identified has improved our knowledge in renal tubule physiology. The identification of new proteins and the disruption of the genes encoding these proteins in mouse unravelled the cause of diseases described many years ago. The physiopathology of most tubular disorders is now known. The accurate analysis of patients' phenotype, based on the knowledge in renal physiology, allowed identifying the tubular part(s) involved in the abnormalities observed. We briefly summarise the main functions of each tubule segment, and describe the inherited disorders currently identified together with their pathophysiology. We describe the dysfunctions of proximal tubule (glycosuria, renal phosphate leak, aminoaciduria, tubular acidosis, urate excretion), thick ascending limb (Bartter's syndrome, hypercalciuria, hypermagnesuria…), distal tubule (Gitelman's syndrome, Gordon's syndrome…), collecting duct (distal tubular acidosis, salt wasting or retention syndrome…). Diabetes insipidus is not included.

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
无味糖尿病以外的遗传性小管运输异常
在过去的几年里,许多原因和机制的遗传性肾脏疾病已经确定。突变鉴定的研究提高了我们对肾小管生理学的认识。新蛋白质的鉴定和老鼠体内编码这些蛋白质的基因的破坏揭示了许多年前描述的疾病的原因。大多数小管疾病的生理病理现在是已知的。基于肾生理学知识对患者表型的准确分析,可以识别所观察到的异常涉及的小管部分。我们简要地总结了每个小管段的主要功能,并描述了目前确定的遗传疾病及其病理生理。我们描述了近端小管功能障碍(糖尿、肾磷酸盐泄漏、氨基酸性尿、管状酸中毒、尿酸排泄)、厚升肢(Bartter综合征、高钙尿症、高镁尿症……)、远端小管(Gitelman综合征、Gordon综合征……)、收集管(远端小管酸中毒、盐消耗或潴存综合征……)。尿崩症不包括在内。
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
自引率
0.00%
发文量
0
期刊最新文献
Insuffisance rénale aiguë et chronique au décours de la transplantation d'organe, rein exclu Conduite de l'hémodialyse et prévention de ses complications Grossesse au cours des maladies rénales chroniques Spécificités pédiatriques de la transplantation rénale Adaptations pédiatriques aux techniques de suppléance de l’insuffisance rénale terminale : la transplantation rénale
×
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