ABSENCE OF THROMBOSIS IN SUBJECTS WITH HETEROZYGOUS PROTEIN-C DEFICIENCY
ABSENCE OF THROMBOSIS IN SUBJECTS WITH HETEROZYGOUS PROTEIN-C DEFICIENCY
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DOI：
10.1056/nejm198710153171604
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发表时间：
1987-10-15
影响因子：
158.5
通讯作者：
BROZE, G
中科院分区：
文献类型：
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作者：
MILETICH, J;SHERMAN, L;BROZE, G
蛋白C缺乏被认为与静脉血栓形成的风险增加有关。为了建立正常值范围，我们使用双位点单克隆抗体测定699名健康成人的蛋白C水平。分布是对数正态的; 95%的值在总体平均值（4.03 μ g/ml）的70%至140%的范围内。两名受试者的水平低于平均值3.5 SD以上（34%和50%），与杂合缺陷一致。我们还筛选了4723名其他献血者，发现另外8名无关受试者的水平为正常水平的33%至51%。通过对四个家系的详细研究，证实了杂合子蛋白C缺乏症的常染色体遗传。从55%到65%的正常水平与正常值分布下端的杂合缺陷一致，当两组合并时，在5422名受试者中的79名中发现了这一点。所有受试者均无任何静脉血栓形成病史。我们得出结论，蛋白C杂合缺陷的患病率为1/200至300，这一数字与最近发现的已知纯合婴儿数量一致，并且在60名健康成人中发现1例与杂合缺陷一致的水平，但与血栓形成风险无关。
Protein C deficiency has been thought to be associated with an increased risk of venous thrombosis. To establish a normal range of values, we used a two-site monoclonal-antibody assay to measure protein C levels in 699 healthy adults. The distribution was log normal; 95 percent of the values ranged from 70 to 140 per cent of the overall mean (4.03 .mu.g per milliliter). Two subjects had levels more than 3.5 SD below the mean (34 and 50 percent), consistent with heterozygous deficiency. We also screened 4723 other blood donors and found 8 additional unrelated subjects with levels from 33 to 51 percent of normal. Autosomal inheritance of heterozygous protein C deficiency was confirmed in them by a detailed study of four families. Levels from 55 to 65 percent of normal are consistent with either heterozygous deficiency of the lower end of the distribution of normal values, and were found in 79 of 5422 subjects when the two groups were combined. None of the subjects had any history of venous thrombosis. We conclude that heterozygous deficiency of protein C has a prevalence of 1 in 200 to 300, a figure consistent with the known number of homozygous infants recently identified, and that levels consistent with heterozygous deficiency are found in 1 in 60 healthy adults but are not detectably associated with a risk of thrombosis.