Genetic electrolyte disturbances and sudden death / 中国实用儿科杂志

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.