青少年<i>PROC</i>复合杂合基因突变致蛋白C缺乏症2例报告并文献复习

张玉琴; 钟文; 郭俊; 陈西洋; 李佩; 李玉欣; 刘长利; 聂于勤; 程婷婷; 张卫茹

doi:10.16766/j.cnki.issn.1674-4152.004516

青少年PROC复合杂合基因突变致蛋白C缺乏症2例报告并文献复习

doi: 10.16766/j.cnki.issn.1674-4152.004516

张玉琴^{1, 2},
钟文¹,
郭俊¹,
陈西洋³,
李佩³,
李玉欣³,
刘长利³,
聂于勤³,
程婷婷^1, ,,
张卫茹¹

1.
中南大学湘雅医院全科医学科, 湖南长沙 410000
2.
中国医学科学院北京协和医学院生物医学工程研究所，天津 300192
3.
南华大学衡阳医学院，湖南衡阳 421000

基金项目:

湖南省自然科学基金项目 2022JJ70072

湖南省自然科学基金项目 2022JJ40846

详细信息

通讯作者:
程婷婷，E-mail：chengtingting@csu.edu.cn

中图分类号: R596 R499
计量
- 文章访问数: 8
- HTML全文浏览量: 5
- PDF下载量: 1
- 被引次数: 0
出版历程
- 收稿日期: 2025-05-04
- 网络出版日期: 2026-10-23

Hereditary protein C deficiency caused by heterozygous mutants in adolescents: two cases report and literature review

1.
Department of General Practice, Xiangya Hospital Central South University, Changsha, Hunan 410000, China

摘要

摘要: 本文报道了2例由复合杂合PROC基因突变引起的遗传性蛋白C缺乏症（HPCD）病例。HPCD是一种罕见的遗传性疾病，可导致严重的血栓事件和并发症，临床表现多样，从无症状到深静脉血栓形成、肺栓塞、脑血栓形成和暴发性紫癜等。本文详细描述了2例患者的疾病进展及其家族情况，并结合莫塔安全诊断策略回顾了其诊治过程。通过这些病例，探讨了在接诊以头痛、下肢水肿及胸痛为主诉的青少年患者时，全科医生的莫塔诊疗思维，并强调注意年轻患者和反复血栓形成患者的家族史，早期识别HPCD等罕见疾病。一旦确诊HPCD，应尽早对家族其他成员进行诊断和早期干预。全科医生与专科医生协作参与HPCD患者及PROC突变基因携带者的长期管理，包括生活方式调整和婚育指导，这对于提升全科诊疗水平和预防血栓风险具有重要意义。
- 遗传性蛋白C缺乏症 /
- 复合杂合 /
- 莫塔安全诊断策略 /
- 随访管理 /
- 婚育指导
Abstract: This article presents two cases of hereditary protein C deficiency (HPCD) that have been caused by compound heterozygous mutations in the PROC gene. HPCD is a rare genetic disorder that can lead to severe thrombotic events and complications. Clinical presentations can range from being asymptomatic to deep vein thrombosis, pulmonary embolism, cerebral thrombosis, and fulminant purpura. The article provides a detailed exposition of the disease progression and family history of the two patients, employing the Motta method to review their diagnostic and therapeutic processes. Through these cases, it highlights the significance of timely recognition of HPCD when treating adolescents presenting with symptoms such as headache, lower limb edema, and chest pain. Furthermore, they highlight the necessity of considering family history of young patients and those with recurrent thrombosis. Following the diagnosis of HPCD, it is imperative that early diagnosis and intervention be promptly initiated for other family members. Collaborative management between general practitioners and specialists is crucial for the long-term care of HPCD patients and PROC mutation carriers. This collaborative management may include including lifestyle adjustments and reproductive guidance, which is significant for enhancing primary care and preventing thrombotic risks.
- Hereditary protein C deficiency /
- Heterozygous mutation /
- Motta five-step rule /
- Follow-up management /
- PROC heterozygous gene mutation carriers

HTML全文

图 1 青少年头痛安全诊疗策略思维导图

Figure 1. Safe management strategies for adolescent headache: a mind map

下载: 全尺寸图片幻灯片

图 2 HPCD患者家系

Figure 2. Family pedigree of a patient with HPCD

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图 3 青少年下肢水肿安全诊疗策略思维导图

Figure 3. Safe management strategies for adolescent lower limb edema: a mind map

下载: 全尺寸图片幻灯片

图 4 青少年胸痛安全诊疗策略思维导图

Figure 4. Safe management strategies for adolescent chest pain: a mind map

下载: 全尺寸图片幻灯片

图 5 HPCD患者随访管理流程图

Figure 5. Follow-up management flowchart for patients with HPCD

下载: 全尺寸图片幻灯片

表 1 我国PROC复合杂合基因所致蛋白C缺乏症病例

Table 1. Protein C deficiency caused by compound heterozygous mutations in the PROC gene in China

序号	时间	性别	发病年龄	血栓部位	家族栓塞史	蛋白C活性(%)	治疗	预后	参考文献
1	2012	/	46岁	下肢深静脉血栓形成	/	57.7	/	/	[9]
2	2012	/	42岁	下肢深静脉血栓形成	/	39.4	/	/
3	2012	/	24岁	下肢深静脉血栓形成肺血栓栓塞	/	10.0	/	/
4	2015	男	38岁	下肢静脉血栓	无	34.0	/	/	[10]
5-1	2014	男	28岁	深静脉血栓肺栓塞	/	21.0	低分子肝素华法林	/	[11]
5-2	2014	男	19岁	深静脉血栓	无	21.0	/	/
6	2014	女	30岁	上矢状窦血栓	有	26.0	肝素治疗2周，华法林维持治疗	存活	[12]
7-1	2014	女	43岁	左下肢深静脉血栓形成	无	20.0	肝素华法林维持治疗	存活	[13]
7-2	2014	男	10岁	/	无	10.0	/	/
8-1	2015	男	15岁	右股深静脉血栓形成	无	4.0	低分子肝素华法林	存活	[14]
8-2		女	20岁	右侧深静脉血栓(怀孕)	无	5.0	低分子肝素华法林	存活
9	2016	男	1天	暴发性紫癜	/	4.0	低分子肝素和冰冻血浆	死亡	[15]
10	2016	男	28岁	颅内静脉窦血栓	/	55.0	放弃治疗	死亡	[16]
11	2016	男	12岁	无症状	/	27.0	/	/
12	2016	男	38岁	右矢状窦及侧窦静脉血栓形成右下肢深静脉血栓形成	/	25.0	低分子肝素华法林右股静脉置管手术	存活	[17]
13	2016	女	26岁	腘静脉血栓不明原因流产	无	8.0	低分子肝素华法林	存活
14	2018	男	1天	暴发性紫癜	无	4.0	低分子肝素和新鲜冷冻血浆治疗	死亡	[18]
15	2019	/	1个月	暴发性紫癜	/	0.6	/	/	[19]
16	2019	女	6个月	暴发性紫癜	有		FFP低分子肝素华法林	存活	[20]
17	2019	女	1天	暴发性紫癜	/	0.8	FFP和低分子肝素	2月龄死亡	[21]
18	2021	男	2天	暴发性紫癜	/	/	新鲜冰冻血浆	死亡	[22]
19	2022	男	6个月	颅内出血肺出血	/	＜1.0	肝素利伐沙班	存活	[23]
20-1	2022	男	14岁	脑出血；16岁时，右侧下肢深静脉血栓形成	无	15.0	低分子肝素钠华法林	存活
20-2	2022	男	18岁	18岁时，肺栓塞，左侧下肢深静脉血栓形成	无	27.9	依诺肝素钠利伐沙班	存活
注：“/”表示文献原文未提及该项信息。

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