I型高脂蛋白血症在婴儿期表现为猝死。
Type I hyperlipoproteinemia presenting as sudden death in infancy.
作者信息
Potter J M, Hilton J M
出版信息
Aust N Z J Med. 1983 Aug;13(4):381-3. doi: 10.1111/j.1445-5994.1983.tb04486.x.
Abstract
A routine post-mortem investigating sudden death in an eight week old male infant revealed gross Type I hyperlipoproteinemia (triglyceride concentration 825 mmol/L). Death was attributed to generalized cerebral anoxia. Study of the family revealed the parents were first cousins both of whom had depressed postheparin lipolytic activity, as did five out of seven of the remainder of the family members tested. This family is a notable example of deficiency of extrahepatic lipoprotein lipase.
摘要
对一名8周大男婴的猝死进行的常规尸检显示为I型高脂蛋白血症（甘油三酯浓度为825毫摩尔/升）。死亡原因是全身性脑缺氧。对其家族的研究发现，父母是近亲，两人的肝素后脂解活性均降低，在接受检测的其余7名家庭成员中，有5人的情况也是如此。这个家族是肝外脂蛋白脂肪酶缺乏的一个典型例子。
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