Slow Elevation in Protein C Activity without a PROC Mutation in a Neonate with Intracranial Hemorrhage.
Slow Elevation in Protein C Activity without a PROC Mutation in a Neonate with Intracranial Hemorrhage.
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DOI：
10.1055/s-0038-1639614
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发表时间：
2018-04
期刊：
影响因子：
0.9
通讯作者：
Ishiguro A
中科院分区：
文献类型：
--
作者：
Uehara E;Nakao H;Tsumura Y;Nakadate H;Amari S;Fujinaga H;Tsutsumi Y;Kang D;Ohga S;Ishiguro A
严重的蛋白C（PC）缺乏导致新生儿暴发性紫癜和中风。然而，血浆PC活性对新生儿脑疾病发展的临床影响仍然难以捉摸。我们报告一例出血性中风与新生儿窒息和严重的PC缺乏症。生后7天血浆PC和蛋白S活性分别为12%和43%。未发现PROC突变。PC水平在2月龄前不超过20%，即使没有消耗性凝血病或维生素K缺乏。在输注活化PC浓缩物期间（每周两次，直至出生后68天），未发生血栓栓塞或出血事件。PC活性水平逐渐增加到9月龄的年龄标准值。本病例显示，无PROC突变的新生儿PC缺陷在PC活性缓慢增加之前引起颅内出血。
Severe protein C (PC) deficiency leads to purpura fulminans and stroke in newborns. However, the clinical impact of plasma PC activity on the development of neonatal cerebral disease remains elusive. We report a case of hemorrhagic stroke associated with neonatal asphyxia and severe PC deficiency. Plasma PC and protein S activity 7 days after birth was 12% and 43%, respectively. No PROC mutation was found. PC levels did not exceed 20% until 2 months of age, even in the absence of consumption coagulopathy or vitamin K deficiency. Neither thromboembolic nor hemorrhagic events occurred during the infusion of activated PC concentrate (twice weekly, up to 68 days after birth). The PC activity levels gradually increased to the standard value for age by 9 months of age. The present case showed that neonatal PC deficiency without a PROC mutation caused an intracranial hemorrhage before a slow increase in PC activity.