一例proc基因复合杂合突变致遗传性蛋白c缺乏症患儿的临床诊治.docxVIP

协和医学杂志 Medical Journal of Peking Union Medical College Hospital ?疑难病与罕见病专栏? 一例PROC基因复合杂合突变致遗传性蛋白C缺乏症患儿的临床诊治 唐晓艳，王薇，马明圣，肖娟 中国医学科学院北京协和医学院北京协和医院儿科，北京100730 通信作者:肖 娟 电话：010 E-mail： xiaojuan@pumch.cn 【摘要】遗传性蛋白C缺乏症(hereditary pmtein C deficiency, HPCD)主要表现为罕见的新生儿期暴发性紫瘢,疾 病进展迅速，死亡率高，诊治困难，早期识别和正确诊治可显著改善预后。本文报道1例PROC基因复合杂合突变所致 的新生儿HPCD,患儿出生后24 h内即出现反复皮肤紫瘢，6月龄前辗转就诊于国内多家医院，未明确诊断。我院就诊 期间查患儿凝血功能异常，蛋白C水平极低，通过静脉输注新鲜冰冻血浆及长期口服抗凝药物治疗，患儿病情控制良 好，该病例为国内首例成功救治的最小年龄HPCD病例。儿科医师在临床实践中应提高对该病的早期识别能力；新鲜冰 冻血浆联合口服抗凝药物治疗HPCD效果确切，在无蛋白C浓缩物的情况下，临床上可考虑该治疗方案。 【关键词】遗传性蛋白C缺乏症；新生儿；紫瘢 【中图分类号】R596； R722 【文献标志码】A 【文章编号】1674-9081(2021)03-0396-05 DOI： 10. 12290/xhyxzz.Diagnosis and Management of an Infant with Hereditary Protein C Deficiencywith Compound Mutation of PROC Gene TANG Xiaoyan, WANG Wei, MA Mingsheng, XIAO Juan Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences Peking Union Medical College, Beijing 100730, China Corresponding author： XIAO Juan Tel： 86-10 E-mail： xiaojuan@pumch.cn [Abstract] Hereditary protein C deficiency (HPCD) is a rare hereditary thrombophilia leading to throm- hoemholic events during the neonatal period. We reported a case of Chinese newborn with HPCD, presenting with purpura fulminans. She was diagnosed as IIPCD at 6 months old. Coagulation studies showed prolonged PT and APTT, low fibrinogen and high D-dimer levels. The circulating protein C level was only 1 %. She was originally misdiagnosed as having sepsis hut not properly diagnosed and treated until admission to our hospital at the age of 6 months. Daily infusion of fresh frozen plasma was used as the initial treatment since prolein C concentrates were not available. Warfarin was used as a long-term treatment to prevent thrombotic events, with regular international normalized ratio and D-dimer level being monitored. Genetic analysis showed compound heterozygous mutation. Early diagnosis is very important for prompt life-saving trea