Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.

Suppr

超能文献

作者信息

Brooks A M, Owens M, Sayer J A, Salzmann M, Ellard S, Vaidya B

机构信息

Department of Endocrinology, Royal Devon & Exeter Hospital, Exeter, UK.

出版信息

QJM. 2012 Aug;105(8):791-4. doi: 10.1093/qjmed/hcr119. Epub 2011 Jul 14.

DOI:10.1093/qjmed/hcr119

PMID:21764813

Abstract

摘要

相似文献

Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.

QJM. 2012 Aug;105(8):791-4. doi: 10.1093/qjmed/hcr119. Epub 2011 Jul 14.

Increased urinary Na-Cl cotransporter protein in familial hyperkalaemia and hypertension.家族性高钾血症和高血压患者尿钠氯共转运蛋白增加。

Nephrol Dial Transplant. 2008 Feb;23(2):492-6. doi: 10.1093/ndt/gfm641. Epub 2007 Oct 19.

A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene.一个患有II型假性醛固酮减少症的新家族系谱以及WNK4基因酸性基序中的一个新突变（564D>H）

Hypertension. 2005 Aug;46(2):295-300. doi: 10.1161/01.HYP.0000174326.96918.d6. Epub 2005 Jul 5.

Three novel missense mutations of WNK4, a kinase mutated in inherited hypertension, in Japanese hypertensives: implication of clinical phenotypes.在日本高血压患者中发现的WNK4（一种与遗传性高血压相关的激酶）的三种新型错义突变：对临床表型的影响

Am J Hypertens. 2004 May;17(5 Pt 1):446-9. doi: 10.1016/j.amjhyper.2003.12.020.

Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation.家族性高钾血症和高血压中的高钙尿症伴随高钾血症并先于高血压出现：一个携带Q565E WNK4突变的大家族的描述。

J Clin Endocrinol Metab. 2004 Aug;89(8):4025-30. doi: 10.1210/jc.2004-0037.

A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene.一名因WNK4基因新突变导致的II型假性醛固酮减少症患者。

Endocrine. 2008 Jun;33(3):230-4. doi: 10.1007/s12020-008-9084-8.

Familial hyperkalemic hypertension: phenotypic analysis in a large family with the WNK1 deletion mutation.家族性高钾性高血压：一个携带WNK1缺失突变的大家庭的表型分析

Am J Med. 2003 Apr 15;114(6):495-8. doi: 10.1016/s0002-9343(03)00054-8.

A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4.WNK4 酸性基序中新型突变（D564N）导致的 II 型假性醛固酮减少症（PHA2）家族病例

Mol Genet Genomic Med. 2019 Jun;7(6):e705. doi: 10.1002/mgg3.705. Epub 2019 May 1.

Resolution of hypertension during pregnancy in familial hyperkalemia and hypertension with the WNK4 Q565E mutation.

Am J Obstet Gynecol. 2005 Feb;192(2):598-603. doi: 10.1016/j.ajog.2004.07.020.

Human hypertension caused by mutations in WNK kinases.由WNK激酶突变引起的人类高血压。

Science. 2001 Aug 10;293(5532):1107-12. doi: 10.1126/science.1062844.

引用本文的文献

Molecular mechanisms for the modulation of blood pressure and potassium homeostasis by the distal convoluted tubule.远曲小管调节血压和钾离子稳态的分子机制。

EMBO Mol Med. 2022 Feb 7;14(2):e14273. doi: 10.15252/emmm.202114273. Epub 2021 Dec 20.

WNK4 kinase: from structure to physiology.WNK4 激酶：从结构到生理学。

Am J Physiol Renal Physiol. 2021 Mar 1;320(3):F378-F403. doi: 10.1152/ajprenal.00634.2020. Epub 2021 Jan 25.

Hypertension Accompanied by Hyperaldosteronism, Hyperkalemia, and Hyperchloremic Acidosis: A Case Report and Literature Review.伴有高醛固酮血症、高钾血症和高氯性酸中毒的高血压：病例报告及文献综述

Case Rep Endocrinol. 2020 Jul 23;2020:1635413. doi: 10.1155/2020/1635413. eCollection 2020.

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.

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