Homozygous Protein C Deficiency: Description of a New Mutation and Successful Treatment with Low Molecular Weight Heparin
Homozygous Protein C Deficiency: Description of a New Mutation and Successful Treatment with Low Molecular Weight Heparin
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纯合蛋白 C 缺乏症：新突变的描述和低分子量肝素的成功治疗
DOI：
10.1055/s-0037-1615060
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发表时间：
1998
影响因子：
6.7
通讯作者：
P. Massicotte
中科院分区：
文献类型：
--
作者：
P. Monagle;M. Andrew;J. Halton;R. Marlar;L. Jardine;P. Vegh;M. Johnston;Colin Webber;P. Massicotte
我们提出了一个新的蛋白C基因突变的家系，其中先证者有一个不寻常的临床表现。本文探讨华法林引起皮肤坏死与抗凝水平的关系。评估蛋白C浓缩物的药代动力学，以确定替代治疗的频率。对低分子肝素（LMWH）治疗的临床和生化疗效进行了评估。使用全身骨密度测定法监测长期LMWH对生长期儿童骨密度的影响。华法林治疗要求INR大于3.5，以避免皮肤坏死。如果使用蛋白C替代品，则需要100 U/kg/天的剂量以维持蛋白C水平始终等于或高于0.20 U/ml。在接受LMWH预防性治疗近3年期间，没有复发血栓形成，没有皮肤坏死和出血。体内凝血酶生成的生化标志物受到抑制，并在正常范围内。在整个给药期间，骨密度继续以正常速率增加。LMWH是一种有效的长期治疗形式，用于具有可测量蛋白C水平的纯合子蛋白C缺乏患者。
Summary We present a kindred with a new mutation of the protein C gene, in which the proband had an unusual clinical presentation. The relationship between warfarin induced skin necrosis and level of anticoagulation was investigated. The pharmacokinetics of protein C concentrate was assessed to determine frequency of replacement therapy. The clinical and biochemical efficacy of therapy with low molecular weight heparin (LMWH) was assessed. The effect of long-term LMWH on bone density in the growing child was monitored using whole body densitometry. Warfarin therapy required an INR of greater than 3.5 to avoid skin necrosis. If protein C replacement was to be used, doses of 100 U/kg/day would have been required to maintain protein C levels consistently at or above 0.20 U/ml. While receiving prophylactic therapy with LMWH for almost 3 years, there were no episodes of recurrent thrombosis, no skin necrosis and no bleeding. Biochemical markers of in vivo thrombin generation were suppressed and within the normal range. Bone density continued to increase at the normal rate throughout the treatment period. LMWH is an effective form of long-term therapy for homozygous protein C deficient patients with measurable protein C levels.
影响因子：
158.5
作者：
MILETICH, J;SHERMAN, L;BROZE, G
通讯作者：
BROZE, G
严重的纯合蛋白 C 缺乏症。
DOI：
10.1016/s0022-3476(84)80013-x
发表时间：
1984
期刊：
The Journal of pediatrics
影响因子：
--
作者：
Sills,RH;Marlar,RA;Montgomery,RR;Deshpande,GN;Humbert,JR
通讯作者：
Humbert,JR