The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

被引：49

作者：

Bandulik, Sascha ^{[1
]}

Schmidt, Katharina ^{[1
]}

Bockenhauer, Detlef ^{[2
,4
]}

Zdebik, Anselm A. ^{[3
,4
]}

Humberg, Evelyn ^{[1
]}

Kleta, Robert ^{[2
,3
,4
]}

Warth, Richard ^{[1
]}

Reichold, Markus ^{[1
]}

机构：

[1] Univ Regensburg, D-93053 Regensburg, Germany

[2] UCL, Great Ormond St Hosp, Inst Child Hlth, London NW3 2PF, England

[3] UCL, Dept Neurosci Physiol & Pharmacol, London NW3 2PF, England

[4] UCL, Dept Med, London NW3 2PF, England

来源：

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY | 2011年 / 461卷 / 04期

关键词：

Kir4.1; Salt-losing syndrome; Distal convoluted tubule; Channelopathy; Potassium channel; Kidney; K channel; Transport; Epilepsy; DISTAL CONVOLUTED TUBULE; CALCIUM-SENSING RECEPTOR; RENAL MAGNESIUM LOSS; POTASSIUM CHANNEL; SENSORINEURAL DEAFNESS; BASOLATERAL MEMBRANE; PH SENSITIVITY; MICE LACKING; PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE; HYPOKALEMIC ALKALOSIS;

D O I：

10.1007/s00424-010-0915-0

中图分类号：

Q4 [生理学];

学科分类号：

071003 ;

摘要：

Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy. The renal saltwasting pathology of EAST syndrome is caused by transport defects in the distal convoluted tubule where KCNJ10 plays a pivotal role as a basolateral K+ channel. This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule.

引用

页码：423 / 435

页数：13

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