Protein C deficiency resulting from possible double heterozygosity and its response to danazol.
Protein C deficiency resulting from possible double heterozygosity and its response to danazol.
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可能的双杂合性导致的蛋白 C 缺乏及其对达那唑的反应。
DOI：
10.1182/blood.v71.2.370.bloodjournal712370
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发表时间：
1988
期刊：
影响因子：
20.3
通讯作者：
Edward Silberstein
中科院分区：
文献类型：
--
作者：
R. Gruppo;Pam Leimer;R. Francis;R. Marlar;Edward Silberstein
描述了一个独特的蛋白C(PC)缺乏症家系。先证者出生时有肾静脉血栓病史，6岁时有髂股血栓病史。肝素治疗6个月后，停止抗凝治疗伴有持续性低纤维蛋白原血症，纤维蛋白原消耗量增加。随着肝素的持续输注，纤维蛋白原转换正常，孩子一直没有血栓形成。PC的免疫水平和氨解试验测定的功能活性均适度降低(分别为47%和34%)。以抗凝血活性衡量的PC的功能活性低得不成比例(14%)。与溶胺活性或免疫学水平相比，一个3岁的无症状兄弟姐妹的PC抗凝活性有类似的不成比例的降低。母亲表现为I型PC缺乏症，免疫蛋白水平(59%)、抗凝活性(52%)和酰胺溶解活性(46%)成比例下降，而父亲II型PC缺乏，免疫蛋白水平正常(102%)，氨溶功能正常(98%)，但抗凝功能低下(50%)。在父亲和两个孩子身上，用双向免疫电泳法检测到PC分子异常。这些数据与这样的假设相一致，即孩子是从父母各自遗传的两种不同类型的PC缺乏症的双重杂合子。在先证者中使用达那唑14天后，PC抗原浓度从66%上升到98%，但PC抗凝功能没有变化。
A unique family with protein C (PC) deficiency is described. The proband had a history of renal vein thrombosis as a newborn and iliofemoral thrombosis at the age of 6 years. After 6 months of heparin treatment, discontinuation of anticoagulation therapy was accompanied by persistent hypofibrinogenemia with increased fibrinogen consumption. With continuous infusion of heparin, fibrinogen turnover normalized, and the child has remained free of thrombosis. Both the immunologic level of PC and the functional activity measured by amidolytic assay were moderately reduced (47% and 34%, respectively). Functional activity of PC measured by its anticoagulant activity was disproportionately lower (14%). A 3-year-old asymptomatic sibling had a similar disproportionate reduction of PC anticoagulant activity compared with the amidolytic activity or immunologic level. The mother demonstrated type I PC deficiency with a proportionate reduction in immunologic protein levels (59%), anticoagulant activity (52%), and amidolytic activity (46%), whereas the father had type II PC deficiency with normal immunologic protein levels (102%), normal amidolytic function (98%), but a low anticoagulant function (50%). An abnormal PC molecule was detected by two-dimensional immunoelectrophoresis in the father and two children. These data are consistent with the hypothesis that the children are doubly heterozygous for two different types of PC deficiency inherited from each of the parents. A 14-day trial of danazol in the proband resulted in a rise in the PC antigen concentration from 66% to 98% but no change in PC anticoagulant function.
口服抗凝期间和选定疾病状态下蛋白 C 抗原与抗凝活性之间的关系。
DOI：
10.1172/jci112319
发表时间：
1986
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
ViganoD'Angelo,S;Comp,PC;Esmon,CT;D'Angelo,A
通讯作者：
D'Angelo,A
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