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

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

Journal: Pflugers Archiv : European journal of physiology 2011;461(4):423-35

PMID: 21221631

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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.

Address: Medical Cell Biology, University of Regensburg, Regensburg, Germany.

DOI: 10.1007/s00424-010-0915-0

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https://dx.doi.org/10.1007/s00424-010-0915-0

MeSH Terms: Ataxia, Epilepsy, Humans, Kidney Diseases, Kidney Tubules, Distal, Mutation, Potassium Channels, Inwardly Rectifying, Salts, Syndrome, Kcnj10 Channel