Clinic for Pediatrics, Children's Clinical University Hospital, Riga, Latvia.
Faculty of Continuing Education, University of Latvia, Riga, Latvia.
Clin Genet. 2019 Jan;95(1):63-78. doi: 10.1111/cge.13374. Epub 2018 Jul 8.
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and Scholl. It is caused by mutations in KCNJ10, which encodes Kir4.1, an inwardly rectifying K channel found in the brain, inner ear, kidney and eye. To date, 16 mutations and at least 28 patients have been reported. In this paper, we review mutations causing EAST/SeSAME syndrome, clinical manifestations in detail, and efficacy of treatment in previously reported patients. We also report a new Latvian kindred with 4 patients. In contrast to the majority of previous reports, we found a progressive course of the disorder in terms of hearing impairment and neurologic deficit. The treatment is based on antiepileptic drugs, electrolyte replacement, hearing aids and mobility devices. Future research should concentrate on recognizing the lesions in the central nervous system to evaluate new potential diagnostic criteria and on formally evaluating intellectual disability.
EAST（癫痫、共济失调、感觉神经性耳聋、肾小管病）或 SeSAME（癫痫、感觉神经性耳聋、共济失调、智力障碍和电解质失衡）综合征是一种罕见的常染色体隐性遗传综合征，于 2009 年由 Bockenhauer 和 Scholl 分别首次描述。它是由 KCNJ10 基因突变引起的，该基因编码 Kir4.1，是一种在大脑、内耳、肾脏和眼睛中发现的内向整流钾通道。迄今为止，已有 16 种突变和至少 28 名患者被报道。本文详细回顾了导致 EAST/SeSAME 综合征的突变、临床表现以及以前报道的患者的治疗效果。我们还报告了一个新的拉脱维亚家族，其中有 4 名患者。与大多数先前的报告不同，我们发现听力损伤和神经功能缺损的疾病进程呈进行性。治疗基于抗癫痫药物、电解质替代、助听器和移动设备。未来的研究应集中于识别中枢神经系统的病变，以评估新的潜在诊断标准，并正式评估智力障碍。
