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Review
. 2011 Apr;461(4):423-35.
doi: 10.1007/s00424-010-0915-0. Epub 2011 Jan 11.

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

Sascha Bandulik  1 , Katharina Schmidt, Detlef Bockenhauer, Anselm A Zdebik, Evelyn Humberg, Robert Kleta, Richard Warth, Markus Reichold
Affiliations
Review

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

Sascha Bandulik et al. Pflugers Arch. 2011 Apr.

Abstract

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 salt-wasting 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.

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