Progress of hereditary thrombocytopenia in children
10.3760/cma.j.issn.1673-4408.2022.09.001
- VernacularTitle:儿童遗传性血小板减少症的研究进展
- Author:
Yitong GUAN
1
;
Rui ZHANG
;
Runhui WU
;
Tianyou WANG
Author Information
1. 国家儿童医学中心 首都医科大学附属北京儿童医院 血液病中心 儿童血液病与肿瘤分子分型北京市重点实验室 儿科学国家重点学科 儿科重大疾病研究教育部重点实验室 100045
- Keywords:
Children;
Hereditary thrombocytopenia;
Gene variation;
Diagnosis;
Treatment
- From:
International Journal of Pediatrics
2022;49(9):577-581
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary thrombocytopenia(HT)is a hemorrhagic disease characterized by thrombocytopenia caused by genetic variation.HT can be manifested as simple thrombocytopenia or combined syndrome, and its clinical manifestations are complex.It often occurs in children.The unique clinical characteristics of HT are platelet dysfunction, unstable course of the disease and susceptibility to other diseases.Due to different pathogenic genes, the treatment and prognosis of HT are diverse.The evaluation of hemorrhage in the clinical management of HT children is very important.In addition, platelet transfusion, thrombopoietin receptor agonists, hematopoietic stem cell transplantation and gene therapy also supply new ideas for HT treatment.This review summarized the current research progress on HT, in order to help clinicians comprehensively identify HT and take active and effective treatment programs.
