Hintz G, Weil J, Buchmann S, Azzam A, Auberger K, Beck C
Klin Wochenschr. 1987 Jul 15;65(12):576-80. doi: 10.1007/BF01727627.
We report on a female infant homozygous for protein C deficiency in a Jordanian family with frequent intermarriage. A protein C antigen of 0.6% was determined. The parents first noticed painful nodular indurations in subcutanous tissue as well as blue-red skin coloration at the age of 6 months. The girl repeatedly suffered from microthrombotic events in parts of the body with large areas of subcutaneous fat. In contrast, the numerous heterozygous carriers with partial protein C deficiency did not show an increased tendency to thrombosis. From the history an autosomal-recessive inheritance may be inferred. Other authors reporting on homozygous cases also postulate the presence of a recessive gene. It is of interest that the infant described here differs from those in other case reports in the age at manifestation of the disease. The homozygous infant showed the first symptoms as late as the age of 6 months, whereas other case reports describe severe symptoms immediately after birth. All symptoms of disease were treated successfully with prothrombin complex concentrate without additional heparin protection. Microthrombotic events subsided quickly, and a large ulcer in the left flank healed almost completely within 6 days.
我们报告了一个约旦家庭中一名纯合子蛋白C缺乏的女婴，该家庭有频繁的近亲通婚情况。测定其蛋白C抗原为0.6%。父母在女婴6个月大时首次注意到皮下组织出现疼痛性结节硬结以及皮肤呈蓝红色。该女孩身体上有大面积皮下脂肪的部位反复发生微血栓形成事件。相比之下，众多携带部分蛋白C缺乏的杂合子并未表现出血栓形成倾向增加。从家族史可推断为常染色体隐性遗传。其他报道纯合子病例的作者也推测存在隐性基因。有趣的是，此处描述的婴儿与其他病例报告中疾病表现的年龄有所不同。该纯合子婴儿直到6个月大时才出现首批症状，而其他病例报告描述的是出生后立即出现严重症状。所有疾病症状均通过凝血酶原复合物浓缩剂成功治疗，无需额外的肝素保护。微血栓形成事件迅速消退，左侧胁腹的一个大溃疡在6天内几乎完全愈合。
