• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

遗传性肾小管疾病的诊断与临床生物化学

Diagnosis and clinical biochemistry of inherited tubulopathies.

作者信息

Sayer J A, Pearce S H

机构信息

Department of Physiological Sciencesy, University of Newcastle upon Tyne, UK.

出版信息

Ann Clin Biochem. 2001 Sep;38(Pt 5):459-70. doi: 10.1177/000456320103800503.

DOI:10.1177/000456320103800503
PMID:11587124
Abstract

Epithelial ion channels and transporter proteins have physiologically important roles throughout the length of the nephron. Discovering the molecular identities of tubular epithelial cell proteins and their functional roles has increased understanding of both renal physiology and tubular diseases. Defects in tubular handling of solutes may present with nephrocalcinosis or nephrolithiasis, rickets, acid base, electrolyte or blood pressure disturbances. Biochemical analysis of both serum and urine, together with clinical history and examination, remain fundamental for their diagnosis, whilst understanding of underlying molecular mechanisms allows appropriate management.

摘要

上皮离子通道和转运蛋白在整个肾单位中发挥着重要的生理作用。发现肾小管上皮细胞蛋白的分子身份及其功能作用,增进了我们对肾脏生理学和肾小管疾病的理解。肾小管溶质处理缺陷可能表现为肾钙质沉着症或肾结石、佝偻病、酸碱、电解质或血压紊乱。血清和尿液的生化分析,连同临床病史和检查,仍然是诊断这些疾病的基础,而对潜在分子机制的理解有助于进行适当的治疗。

相似文献

1
Diagnosis and clinical biochemistry of inherited tubulopathies.遗传性肾小管疾病的诊断与临床生物化学
Ann Clin Biochem. 2001 Sep;38(Pt 5):459-70. doi: 10.1177/000456320103800503.
2
Molecular developments in renal tubulopathies.肾小管疾病的分子进展
Arch Dis Child. 2000 Sep;83(3):189-91. doi: 10.1136/adc.83.3.189.
3
Variant of Bartter's syndrome with a distal tubular rather than loop of henle defect.巴特综合征的一种变体,其远端肾小管而非髓袢存在缺陷。
Nephron. 1989;53(2):164-5. doi: 10.1159/000185732.
4
Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects.巴特氏和吉特曼氏综合征:伴有袢或 DCT 缺陷的失盐性管状病变。
Pediatr Nephrol. 2011 Oct;26(10):1789-802. doi: 10.1007/s00467-011-1871-4. Epub 2011 Apr 19.
5
Hereditary renal tubular disorders.遗传性肾小管疾病
Semin Nephrol. 2009 Jul;29(4):399-411. doi: 10.1016/j.semnephrol.2009.03.013.
6
Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.遗传性厚升支袢和连接小管缺陷导致的肾结石病。
Urolithiasis. 2019 Feb;47(1):43-56. doi: 10.1007/s00240-018-1097-z. Epub 2018 Nov 20.
7
Molecular pathophysiology of tubular transport disorders.肾小管转运障碍的分子病理生理学
Pediatr Nephrol. 2001 Nov;16(11):919-35. doi: 10.1007/s004670100671.
8
Biology and genetics of inherited renal tubular disorders.遗传性肾小管疾病的生物学与遗传学
Exp Nephrol. 1996 Sep-Oct;4(5):253-62.
9
A familial syndrome of growth retardation, severe Fanconi-type renal disease and glomerular changes--a new entity?一种伴有生长发育迟缓、重度范科尼型肾病及肾小球病变的家族性综合征——一种新的疾病实体?
Int J Pediatr Nephrol. 1986 Apr-Jun;7(2):101-6.
10
Glomerular changes in hereditary single-gene diseases.
J Nephrol. 2002 Nov-Dec;15 Suppl 6:S47-56.

引用本文的文献

1
Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders.疾病建模以理解人类遗传肾脏疾病的发病机制。
Clin J Am Soc Nephrol. 2020 Jun 8;15(6):855-872. doi: 10.2215/CJN.08890719. Epub 2020 Mar 5.
2
The Impact of Anti-Epileptic Drugs on Growth and Bone Metabolism.抗癫痫药物对生长和骨代谢的影响。
Int J Mol Sci. 2016 Aug 1;17(8):1242. doi: 10.3390/ijms17081242.
3
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome.病例报告:颈椎软骨钙质沉着症作为吉特曼综合征的一种并发症。
F1000Res. 2016 May 12;5:875. doi: 10.12688/f1000research.8732.1. eCollection 2016.
4
Hypophosphatemic rickets: etiology, clinical features and treatment.低磷性佝偻病:病因、临床特征及治疗
Eur J Orthop Surg Traumatol. 2015 Feb;25(2):221-6. doi: 10.1007/s00590-014-1496-y. Epub 2014 Jun 24.
5
The long-term complications of the inherited tubulopathies: an adult perspective.遗传性肾小管疾病的长期并发症:成人视角
Pediatr Nephrol. 2015 Mar;30(3):385-95. doi: 10.1007/s00467-014-2779-6. Epub 2014 Feb 25.
6
Identification of compound heterozygous KCNJ1 mutations (encoding ROMK) in a kindred with Bartter's syndrome and a functional analysis of their pathogenicity.在一个患有巴特综合征的家族中鉴定出复合杂合性KCNJ1突变(编码ROMK)及其致病性的功能分析。
Physiol Rep. 2013 Nov;1(6):e00160. doi: 10.1002/phy2.160. Epub 2013 Nov 19.
7
A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.一个患有家族性低镁血症伴高钙尿症和肾钙质沉着症的大家庭中的一种新型CLDN16突变。
BMC Res Notes. 2013 Dec 10;6:527. doi: 10.1186/1756-0500-6-527.
8
Mechanisms of Stone Formation.结石形成的机制。
Clin Rev Bone Miner Metab. 2011 Dec;9(3-4):187-197. doi: 10.1007/s12018-011-9104-8.
9
Evaluation of renal tubular acidosis.肾小管酸中毒的评估
Indian J Pediatr. 2007 Jul;74(7):679-86. doi: 10.1007/s12098-007-0120-0.
10
The investigation of hypocalcaemia and rickets.低钙血症和佝偻病的调查
Arch Dis Child. 2003 May;88(5):403-7. doi: 10.1136/adc.88.5.403.