EAST syndrome

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EAST syndrome is a syndrome consisting of epilepsy, ataxia (a movement disorder), sensorineural deafness (deafness because of problems with the hearing nerve) and salt-wasting renal tubulopathy (salt loss caused by kidney problems).

EAST syndrome is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene, as discovered by Bockenhauer and co-workers.[1] A variety of different mutations in KCNJ10 have since been implicated suggesting that the disease results from different spontaneous mutations.[2]

The tubulopathy (renal tubule abnormalities) in this condition predispose to hypokalemic (low potassium) metabolic alkalosis with normal blood pressure. Hypomagnesemia (low blood levels of magnesium) may also be present.

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References[edit]

  1. ^ Bockenhauer D, Feather S, Stanescu HC, et al (May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". N. Engl. J. Med. 360 (19): 1960–70. doi:10.1056/NEJMoa0810276. PMC 3398803. PMID 19420365. 
  2. ^ Freudenthal B, Kulaveerasingam D, Lingappa L, et al (2011). "KCNJ10 Mutations Disrupt Function in Patients with EAST Syndrome.". Nephron Physiology 199 (3): 40–48. doi:10.1159/000330250. PMID 21849804.