先天性蛋白C缺乏致新生儿暴发性紫癜—附2例报道  

Neonatal Purpura Fulminans Caused by Protein C Deficiency

作　　者：崔梦莺 刘清爽[1] 陶亮桥[1] 吴双霜 王佚[1] 刘伟[1] Cui Mengying;Liu Qingshuang;Tao Liangqiao;Wu Shuangshuang;Wang Yi;Liu Wei(Department of Pediatric Gastro-intestinal Surgery,Children’s Hospital of Chongqing Medical University,Chongqing,400014,P.R.China)

机构地区：[1]重庆医科大学附属儿童医院胃肠新生儿外科,重庆400014

出　　处：《西南军医》2021年第1期24-29,共6页Journal of Military Surgeon in Southwest China

摘　　要：目的报道2例蛋白C缺乏致新生儿暴发性紫癜的病例,并通过文献回顾提高临床上对此类疾病的认识。方法回顾性分析2例蛋白C缺乏致新生儿暴发性紫癜为主要表现的患儿的发病、诊断及治疗过程,并进行文献检索,总结该病的临床表现和诊治要点。结果新生儿蛋白C缺乏十分罕见,以全身、尤其是下肢活动部位、多处大面积紫癜为临床表现,实验室检测可发现蛋白C活性减少或缺失,伴或不伴蛋白S减少,D-二聚体升高。明确诊断主要依靠蛋白C检测及PROC基因检测,治疗需要长期反复输注新鲜冰冻血浆、肝素及华法林抗凝、蛋白C浓缩物替代、以及肝移植治疗。结论蛋白C缺乏致新生儿暴发性紫癜较为罕见,国内罕见报道,临床诊断较为困难,预后较差,目前国内尚无统一治疗方案。Objective To make a case report of 2 rare cases with neonatal purpura fulminans caused by protein C defi⁃ciency and the literature review regarding this disease.Methods The clinical data of onset,diagnosis and treatment of 2 cases with neonatal purpura fulminans caused by protein C deficiency were retrospectively analyzed and a literature re⁃view of the disease was conducted to generalize its clinical manifestation and the key points in diagnosis and treatment.Results Protein C deficiency is rare in clinical practice and literature;the main clinical manifestation of the disease is multiple large areas of purpura fulminans,mainly at lower limbs;reduction or absence of protein C activity,possible re⁃duction of protein S count and elevated D-dimer level were found in the laboratory tests of samples from cases;clinical diagnosis mainly based on protein C activity and PROC gene;the main treatments included long-term recurrent infu⁃sion of fresh frozen plasma,heparin and Warfarin as well as protein C concentrate replacement therapy and liver trans⁃plantation.Conclusions Neonatal purpura fulminans caused by protein C deficiency is rare in Chinese literature;the disease is of difficult clinical diagnosed and the prognosis is poor;up to now,there is no current consensus on the thera⁃peutic strategy in China.

关 键 词：蛋白C缺乏 新生儿 暴发性紫癜 肝移植 

分 类 号：R726.5[医药卫生—儿科]