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

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

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Ataxia / genetics
  • Epilepsy / genetics
  • Humans
  • Kidney Diseases / genetics*
  • Kidney Diseases / physiopathology
  • Kidney Tubules, Distal / physiopathology
  • Mutation / genetics
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Potassium Channels, Inwardly Rectifying / physiology
  • Salts / metabolism*
  • Syndrome

Substances

  • Kcnj10 (channel)
  • Potassium Channels, Inwardly Rectifying
  • Salts