Zou Chun, Li Tingying, Long Liu, Liu Liu, Zhu Jian
Department of Gastroenterology, Guizhou Provincial Orthopedics Hospital, Guiyang, Guizhou 550014, P.R. China.
Department of Pediatrics, Guiyang Second People Hospital, Guiyang, Guizhou 550014, P.R. China.
Exp Ther Med. 2022 Nov 8;24(6):751. doi: 10.3892/etm.2022.11688. eCollection 2022 Dec.
Hereditary protein C deficiency (PCD) is caused by mutation in the PC gene (PROC). The homozygous mutation form of PCD is rare. Furthermore, in Asia, cases of noncirrhotic patients with portal vein thrombosis (PVT) secondary to PCD have been rarely reported. The present study reported the case of a patient with PVT due to hereditary PCD. Of note, the mutation of PROCc.152G>A was observed in the patient of the present study. According to the current literature, there has been no previous report regarding the mutation of this gene in China. The patient suffered abdominal pain for 20 days, which was accompanied by vomiting for 2 days. Multiple ulcers and diverticula in the sigmoid colon, as well as erosive small ulcers throughout the colon, were discovered during a colonoscopy. Abdominal angiography indicated thrombosis of the portal vein and its branches. Furthermore, laboratory parameters indicated a hypercoagulable state with normal PC antigen values but decreased PC activity. The discovery of blood coagulation-related genes suggested that homozygous mutation in PC resulted in an amino acid missense mutation. Anticoagulants were prescribed after a diagnosis of type II hereditary PCD with PVT was made. After 15 days, the blood coagulation function of the patient was restored to normal and the symptoms were substantially alleviated. Hence, the present study expanded the mutation spectrum of PROC in China and reaffirmed the value of anticoagulant therapy in PCD.
遗传性蛋白C缺乏症（PCD）由PC基因（PROC）突变引起。PCD的纯合突变形式较为罕见。此外，在亚洲，很少有关于PCD继发非肝硬化门静脉血栓形成（PVT）患者的病例报道。本研究报告了一例因遗传性PCD导致PVT的患者。值得注意的是，本研究中的患者观察到PROC c.152G>A突变。根据目前的文献，中国此前尚无关于该基因突变的报道。该患者腹痛20天，伴有呕吐2天。结肠镜检查发现乙状结肠有多个溃疡和憩室，以及全结肠糜烂性小溃疡。腹部血管造影显示门静脉及其分支血栓形成。此外，实验室检查结果表明处于高凝状态，PC抗原值正常但PC活性降低。凝血相关基因检测发现PC纯合突变导致氨基酸错义突变。在诊断为II型遗传性PCD伴PVT后给予抗凝治疗。15天后，患者凝血功能恢复正常，症状明显缓解。因此，本研究扩展了中国PROC的突变谱，并再次证实了抗凝治疗在PCD中的价值。
