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遗传性代谢病是新生儿疾病中病种最多的一类先天性疾病,也是儿科临床医生对其诊断最感棘手的一类疾病。乃因该类疾病发病率低死亡率高、存活时间短,难以取得诊断经验;而早期缺乏特异性症状,易与新生儿常见病相混淆;加之诊断手段复杂,、一般医院缺乏有关的仪器设备,以致诊断困难,尤当病变发生不可逆损害之前,更难以确诊和治疗。为此本文对新生儿遗传性代谢病在无特殊设备条件下,如何争取早期诊断与治疗等方面加以综述。
Hereditary metabolic disease is the most common type of congenital disease in neonatal diseases, but also the most troublesome diagnosis for pediatric clinicians. Because of the low incidence of such diseases, high mortality and short survival time, it is difficult to obtain diagnostic experience; and the early lack of specific symptoms, easily confused with common newborns; combined with diagnostic tools, the general lack of relevant equipment and equipment , So that the diagnosis is difficult, especially when irreversible lesions lesions, more difficult to diagnose and treatment. To this end, this article reviews the neonatal hereditary metabolic diseases in the absence of special equipment, how to fight for early diagnosis and treatment.