Jerkeman A, Henriksson P, Jonsson N O, Berntorp E
Sektionen för hematologi/koagulation, Universitetssjukhuset MAS, Malmö.
Lakartidningen. 1998 Sep 2;95(36):3772, 3775-7.
Homozygous protein C deficiency (HPCD) with purpura fulminans is a rare condition with an estimated incidence of 1-2 per 400,000 births. About 20 case reports have appeared since the first one was published in 1983. HPCD provides an excellent illustration of the fundamental importance of the protein C anticoagulant pathway. This severe coagulopathy results in serious organ damage, often already in utero, and without treatment it is incompatible with life. The treatment options include fresh frozen plasma and protein C concentrate in the acute phase, followed by oral anticoagulant therapy. Over 160 different point mutations in the protein C gene have been identified in recent years, offering new possibilities for prenatal diagnosis. The article describes the case of a family who lost two children with congenital HPCD. But where the specific point mutation was identified thus enabling prenatal diagnosis to be performed in a subsequent pregnancy.
伴有暴发性紫癜的纯合子蛋白C缺乏症（HPCD）是一种罕见疾病，估计每40万例出生中发生率为1 - 2例。自1983年发表首例病例报告以来，大约已出现20例病例报告。HPCD很好地说明了蛋白C抗凝途径的根本重要性。这种严重的凝血病会导致严重的器官损伤，往往在子宫内就已发生，未经治疗则无法存活。治疗选择包括急性期使用新鲜冰冻血浆和蛋白C浓缩物，随后进行口服抗凝治疗。近年来已在蛋白C基因中鉴定出160多种不同的点突变，为产前诊断提供了新的可能性。本文描述了一个家庭失去两名先天性HPCD患儿的病例。但确定了具体的点突变，从而能够在随后的妊娠中进行产前诊断。
