Stein E A
Am J Dis Child. 1977 Dec;131(12):1363-5. doi: 10.1001/archpedi.1977.02120250045007.
A family with low-density lipoprotein (LDL) deficiency was detected during the course of screening cord blood samples. The initial diagnosis in the proband was based on the cord blood LDL cholesterol and lipoprotein electrophoretic pattern, and was confirmed by repeated studies at the age of 8 months. The infant had none of the clinical abnormalities previously ascribed to the condition. Further investigation did not disclose any other significant biochemical or histological abnormalities. Hypo-beta-lipoproteinemia was found to exist in the proband's mother and only sibling. Hence the diagnosis of familial hypo-beta-lipoproteinemia is possible by unselected cord blood LDL cholesterol measurement and lipoprotein electrophoresis in conjunction with kindred studies.
在筛查脐血样本过程中发现了一个患有低密度脂蛋白（LDL）缺乏症的家庭。先证者的初步诊断基于脐血LDL胆固醇和脂蛋白电泳图谱，并在8个月大时通过重复研究得到证实。该婴儿没有先前归因于这种疾病的任何临床异常。进一步检查未发现任何其他显著的生化或组织学异常。在先证者的母亲和唯一的兄弟姐妹中发现了低β脂蛋白血症。因此，通过对未选择的脐血进行LDL胆固醇测量和脂蛋白电泳并结合家系研究，有可能诊断家族性低β脂蛋白血症。
