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Diagnosis and Management of an Infant with Hereditary Protein C Deficiency with Compound Mutation of PROC Gene
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摘要:
遗传性蛋白C缺乏症(hereditary protein C deficiency，HPCD)主要表现为罕见的新生儿期暴发性紫癜，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癜，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。
Abstract:Hereditary protein C deficiency (HPCD) is a rare hereditary thrombophilia leading to thromboembolic events during the neonatal period. We reported a case of Chinese newborn with HPCD, presenting with purpura fulminans. She was diagnosed as HPCD 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 but 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 protein 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 treatment. This was the youngest surviving patient reported in China.HPCD is rare in China. Recognition of the special skin lesions is important. Fresh frozen plasma and anticoagulant combined with oral warfarin were used with good effects in the treatment, which could be an alternative when protein C concentrate is not easily available in the developing countries.
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Key words:
- hereditary protein C deficiency /
- neonates /
- purpura
作者贡献：唐晓艳负责文章撰写及分析讨论；肖娟负责文章审校；王薇负责病例遗传咨询；马明圣负责病例管理。利益冲突 无 -
表 1 不同治疗时期患儿凝血功能检查结果
项目 4月龄 6月龄 输注血浆前 输注血浆后 参考值范围 血小板(×109/L) 280 300 280 276 100~350 PT(s) 21.6 13.8 19.3 12.7 13.5~16.4 APTT(s) 91.6 36.3 39.9 36.8 29.5~42.2 FBG(g/L) 0.18 0.77 0.63 2.9 2.83~4.01 D-二聚体(mg/L) 28.80 4.80 27.37 0.60 0~0.55 蛋白C活性(%) ＜1 1 8 60~140 PT：凝血酶原时间；APTT：活化部分凝血活酶时间；FBG：纤维蛋白原 
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