Knudtzon J, Søvik O, Vik T, Lindemann R, Halvorsen S
Tidsskr Nor Laegeforen. 1989 Aug 20;109(23):2319-23.
The diagnosis of metabolic diseases during the newborn period is difficult because symptoms and findings are similar to those generally encountered in newborn babies who are ill. Moreover, metabolic diseases are often complicated by infections and cerebral hemorrhages. The article presents a short clinical review of metabolic diseases associated with metabolic acidosis in the newborn and discusses appropriate investigations and differential diagnoses. It is important to remember the possibility of metabolic diseases as the cause of metabolic acidosis in the newborn period.
新生儿期代谢性疾病的诊断较为困难,因为其症状和体征与患病新生儿常见的症状和体征相似。此外,代谢性疾病常并发感染和脑出血。本文对新生儿期与代谢性酸中毒相关的代谢性疾病进行了简短的临床综述,并讨论了适当的检查方法和鉴别诊断。记住代谢性疾病作为新生儿期代谢性酸中毒病因的可能性很重要。