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首页> 外文期刊>Journal of paediatrics and child health >Metabolic emergencies and the emergency physician
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Metabolic emergencies and the emergency physician

机译：代谢紧急情况和急诊医师

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摘要

Fifty percent of inborn errors of metabolism are present in later childhood and adulthood, with crises commonly precipitated by minor viral illnesses or increased protein ingestion. Many physicians only consider IEM after more common conditions (such as sepsis) have been considered. In view of the large number of inborn errors, it might appear that their diagnosis requires precise knowledge of a large number of biochemical pathways and their interrelationship. As a matter of fact, an adequate diagnostic approach can be based on the proper use of only a few screening tests. A detailed history of antecedent events, together with these simple screening tests, can be diagnostic, leading to life-saving, targeted treatments for many disorders. Unrecognised, IEM can lead to significant mortality and morbidity. Advice is available 24/7 through the metabolic service based at the major paediatric hospital in each state and Starship Children's Health in New Zealand.
机译：50％的先天性代谢错误存在于儿童和成年后期，通常由轻微的病毒性疾病或增加的蛋白质摄入引发危机。许多医生仅在考虑了更常见的情况（例如败血症）后才考虑IEM。鉴于大量的先天性错误，看来他们的诊断需要对大量生化途径及其相互关系的准确了解。实际上，适当的诊断方法可以基于仅使用少量筛查测试的结果。可以将先前事件的详细历史记录以及这些简单的筛查测试进行诊断，从而可以挽救生命，针对多种疾病进行针对性的治疗。 IEM未被认可，可导致明显的死亡率和发病率。每个州的主要儿科医院和新西兰的星河儿童健康中心都可以通过新陈代谢服务全天候24/7提供建议。

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