Abstract:

Electrolytes are essential substances that support life，which are important for maintain homeostasis. The extracellular and intracellular essential electrolytes，such as sodium，potassium，calcium and magnesium，are all important components in the process of nucleic acid and protein synthesis，plasma osmotic pressure and neuromuscular excitability. The patients present with irritability，tetany，tachycardia，arrhythmia and even sudden death. Inherited electrolyte imbalances are rare disorders. But the clinical diagnosis is easy by general biochemical examination. All of the diseases are treatable. If the patients were treated in time and correctly，the outcome of most patients should be favourable. Recent advances of genetic studies contribute to more understanding of the inherited electrolyte disturbances. This review describes the clinical characteristics，the diagnostic methods，treatment strategies and the genetic advances of the severe genetic electrolyte disturbances associated with sudden death.

Key words: electrolyte, electrolyte disturbances, sudden death

摘要：

电解质是维持生命的一组重要物质，对于机体内环境及细胞稳定具有重要意义。细胞内外的重要电解质，如钠离子、钾离子、钙离子及镁离子等，在核酸及蛋白质合成、维持血浆渗透压、神经肌肉的兴奋性等方面均有重要作用。电解质紊乱可导致血浆渗透压改变、细胞稳定性下降、神经肌肉兴奋性改变，可表现为烦躁、手足搐搦及心动过速、心律失常等，严重者导致猝死。遗传病所致电解质紊乱较为罕见，但是通过普通生化检查就容易诊断，均为可治疗的疾病，如能及时、正确干预，绝大多数患者预后良好。近年来，随着对遗传性电解质紊乱的相关致病基因研究进展，对疾病的认识逐渐深入。文章就可能导致猝死的严重遗传性电解质紊乱的临床特点、诊疗对策及基因研究进展进行探讨。

关键词: 电解质, 电解质紊乱, 猝死