Abstract：
BACKGROUND: Purpura fulminans (PF) is a hematological emergency that can be caused by severe congenital protein C (PC) deficiency. It has been rarely reported in the Chinese population. We aimed to characterize the clinical and genetic features of Chinese pediatric patients with severe congenital PC deficiency who first presented with PF.
METHODS: Twelve pediatric patients were diagnosed with severe congenital PC deficiency with PF, which was diagnosed based on our hospital records and previous reports from 1988 to July 2021 in China. We evaluated the clinical and genetic features of these patients.
RESULTS: Nine patients (9/12, 75%) had onsets that were observed within the first 48 h after birth. Six patients had a family history of thromboembolism. There was no consanguinity. Other symptoms were intracranial thrombosis or hemorrhage (4, 33.3%), ocular lesions (2, 16.7%), gastrointestinal hemorrhage (2, 16.7%) and kidney infarction before birth (1, 8.3%). All but one of the patients (one case not detected) had a plasma PC activity of <10%. The genetic study indicated that in the eight patients with inherited PC deficiency, two were homozygous, five were compound heterozygous and one was heterozygous for PC deficiency.
CONCLUSIONS: This is the first and largest case series of Chinese pediatric patients with severe congenital PC deficiency who first presented with PF. It has been shown that treatment with both fresh frozen plasma and anticoagulants is recommended when PC concentrate is not easily available, especially in developing countries.
METHODS: Twelve pediatric patients were diagnosed with severe congenital PC deficiency with PF, which was diagnosed based on our hospital records and previous reports from 1988 to July 2021 in China. We evaluated the clinical and genetic features of these patients.
RESULTS: Nine patients (9/12, 75%) had onsets that were observed within the first 48 h after birth. Six patients had a family history of thromboembolism. There was no consanguinity. Other symptoms were intracranial thrombosis or hemorrhage (4, 33.3%), ocular lesions (2, 16.7%), gastrointestinal hemorrhage (2, 16.7%) and kidney infarction before birth (1, 8.3%). All but one of the patients (one case not detected) had a plasma PC activity of <10%. The genetic study indicated that in the eight patients with inherited PC deficiency, two were homozygous, five were compound heterozygous and one was heterozygous for PC deficiency.
CONCLUSIONS: This is the first and largest case series of Chinese pediatric patients with severe congenital PC deficiency who first presented with PF. It has been shown that treatment with both fresh frozen plasma and anticoagulants is recommended when PC concentrate is not easily available, especially in developing countries.
摘要：
背景：暴发性紫癜（PF）是一种血液学紧急情况，可由严重的先天性C蛋白（PC）缺乏引起。在中国人口中很少报道。我们旨在表征首次出现PF的严重先天性PC缺乏症中国儿科患者的临床和遗传特征。
方法：12例儿科患者被诊断为严重的先天性PC缺乏伴PF，根据1988年至2021年7月在中国的医院记录和以前的报告诊断。我们评估了这些患者的临床和遗传特征。
结果：9例患者（9/12，75％）在出生后的最初48小时内出现了发作。6例患者有血栓栓塞家族史。没有血缘关系。其他症状为颅内血栓形成或出血（4，33.3%），眼部病变（2，16.7%），出生前消化道出血(2,16.7%)和肾梗死(1,8.3%)。除一名患者(一例未检测到)外,所有患者的血浆PC活性均<10%。基因研究表明，在8名遗传性PC缺乏症患者中，两个是纯合的，五个是PC缺乏症的复合杂合，一个是杂合。
结论：这是中国儿童严重先天性PC缺乏症患者首次出现PF的第一个也是最大的病例系列。研究表明，当PC浓缩物不易获得时，建议使用新鲜冷冻血浆和抗凝剂进行治疗。尤其是在发展中国家。
方法：12例儿科患者被诊断为严重的先天性PC缺乏伴PF，根据1988年至2021年7月在中国的医院记录和以前的报告诊断。我们评估了这些患者的临床和遗传特征。
结果：9例患者（9/12，75％）在出生后的最初48小时内出现了发作。6例患者有血栓栓塞家族史。没有血缘关系。其他症状为颅内血栓形成或出血（4，33.3%），眼部病变（2，16.7%），出生前消化道出血(2,16.7%)和肾梗死(1,8.3%)。除一名患者(一例未检测到)外,所有患者的血浆PC活性均<10%。基因研究表明，在8名遗传性PC缺乏症患者中，两个是纯合的，五个是PC缺乏症的复合杂合，一个是杂合。
结论：这是中国儿童严重先天性PC缺乏症患者首次出现PF的第一个也是最大的病例系列。研究表明，当PC浓缩物不易获得时，建议使用新鲜冷冻血浆和抗凝剂进行治疗。尤其是在发展中国家。
