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. A variety of different mutations in KCNJ10 have since been implicated suggesting that the disease results from different spontaneous mutations.
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.
- 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.
- 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.
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