Zhang Yunfang, Wang Bo, Bai Yuxin, Wang Anxin
Department of Pediatric, Shenzhen Second People's Hospital, Shenzhen University 1st Affiliated Hospital, No.3002, Sungang West Road, Futian District, Shenzhen, Guangdong, Shenzhen, 518019, China.
Thromb J. 2024 Mar 19;22(1):28. doi: 10.1186/s12959-024-00597-5.
Venous thromboembolism(VTE)is a common multifactorial disease. Anticoagulant protein deficiency is the most usual hereditary thrombophilia in the Chinese people, which includes protein C(PC), protein S and antithrombin deficiencies.
A retrospective analysis was conducted on clinical manifestations, laboratory tests, genetic information, and other relevant data of siblings diagnosed with VTE in 2020 at the Department of Pediatrics of Shenzhen Second People's Hospital. The proband, a 12-year-old female, was admitted to the hospital in December 2020 with a complaint of pain in the left lower limb for four days. The examination found that the PC activity was 53%, and B-ultrasound showed bilateral thrombosis of the great saphenous vein in the thigh segment. The proband's younger brother, a 10-year-old male, was admitted to the hospital in January 2021 due to right lower limb pain for two weeks. PC activity is 40%. B-ultrasound showed superficial venous thrombosis in the left lower limb and upper limb. Both siblings suffered from thalassemia and underwent splenectomy before recurrent thrombosis occurred. The proband's mother was asymptomatic, and her PC activity was 45%. Both cases were treated with warfarin anticoagulation, and their symptoms improved. The proband's mother was found to have a heterozygous mutation at this locus through Sanger sequencing.
Protein C deficiency should be considered for venous thromboembolism in childhood. The heterozygous mutation 1204 A > G in PROC exon 9 in this family is reported for the first time.
静脉血栓栓塞症（VTE）是一种常见的多因素疾病。抗凝蛋白缺乏是中国人中最常见的遗传性易栓症，包括蛋白C（PC）、蛋白S和抗凝血酶缺乏。
对2020年深圳市第二人民医院儿科诊断为VTE的同胞兄妹的临床表现、实验室检查、基因信息及其他相关数据进行回顾性分析。先证者为一名12岁女性，因左下肢疼痛4天于2020年12月入院。检查发现PC活性为53%，B超显示双侧大腿段大隐静脉血栓形成。先证者的弟弟，一名10岁男性，因右下肢疼痛2周于2021年1月入院。PC活性为40%。B超显示左下肢和上肢浅静脉血栓形成。两兄妹均患有地中海贫血，在反复血栓形成前均接受了脾切除术。先证者的母亲无症状，其PC活性为45%。两例均采用华法林抗凝治疗，症状改善。通过Sanger测序发现先证者的母亲在该位点存在杂合突变。
儿童静脉血栓栓塞症应考虑蛋白C缺乏。首次报道该家系PROC基因第9外显子1204 A＞G杂合突变。
