Clinical manifestations and genetic analysis of 5 cases with inherited thrombophilia
10.3760/cma.j.cn101070-20211101-01290
- VernacularTitle:遗传性易栓症5例临床特征及基因分析
- Author:
Lanqin CHEN
1
;
Ju YIN
;
Baoping XU
;
Xiaomin DUAN
;
Runhui WU
;
Kunling SHEN
Author Information
1. 国家儿童医学中心，国家呼吸系统疾病临床研究中心，首都医科大学附属北京儿童医院呼吸一科，北京 100045
- Keywords:
Child;
Thrombophilia;
Venous thromboembolism;
Pulmonary embolism
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(12):934-938
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical manifestations, genetic variations, diagnosis and treatment of children with inherited thrombophilia(IT).Methods:Retrospective study.Children with IT treated in Department of Respiratory Diseases 1 of Beijing Children′s Hospital, Capital Medical University from October 2016 to August 2021 were included in the study and followed up.Results:A total of 5 children met the inclusion criteria, with 3 boys and 2 girls; the age of diagnosis ranged from 7 years to 13 years and 6 months.There were 2 cases of protein C deficiency, 1 case of congenital protein S deficiency, 1 case of activated protein C resistance and 1 case of congenital afibrinogenemia.All 5 cases had pulmonary embolism, 2 cases had deep venous thrombosis of lower limbs, and 1 case had cardiac thrombosis and arterial embolism.The level of protein C was significantly decreased in 1 case, and the level of protein S in 1 case was significantly decreased in the laboratory test of thrombophilia; 2 cases were positive for antiphospholipid antibodies in the acute phase, but negative after 3-6 months of re-examination.Genetic analysis showed 2 cases of PROC gene mutation, 1 case of PROSI gene mutation, 1 case of F5 gene mutation, and 1 case of FGA gene mutation.All children were treated with anticoagulation drugs for long-term, including 4 patients with Warfarin and 1 patient with Rivaroxaban.The follow-up time ranged from 3 months to 5 years.During the follow-up, 1 patient experienced thrombosis recurrence due to infection incentives 1 month after discontinuing anticoagulant drugs on his own. Conclusions:The clinical manifestations of children with IT are the same as those of adults, mainly including venous thromboembolism(VTE); there are limitations in laboratory detection of thrombophilia, and gene analysis is of great significance.Children diagnosed with IT need long-term anticoagulant therapy to reduce the recurrence of VTE.
