Rare Genetic Disease Lends Insights into Renal Salt Handling

Restricted access

Studies of a rare mutation of the potassium-channel gene KCNJ10 suggest that this gene may play an important role in renal salt handling and blood pressure regulation, according to a study in The New England Journal of Medicine.

The report describes five children from two consanguineous families with a syndrome of epilepsy, ataxia, sensor neural deafness, and tubulopathy, which the authors designate “EAST syndrome.” The salt-losing tubulopathy was associated with a hypokalemic metabolic alkalosis, without high blood pressure. Genetic studies traced the autosomal recessive disorder to two mutations of KCNJ10, which encodes a potassium