Diagnosis and treatment of inherited platelet function disorders
10.3760/cma.j.cn101070-20191115-01134
- VernacularTitle:遗传性血小板功能障碍的诊断和治疗现状
- Author:
Yuanyuan TUO
;
Yan LI
;
Jiao JIN
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(8):637-640
- CountryChina
- Language:Chinese
-
Abstract:
Inherited platelet function disorders(IPFD)is a rare hereditary disease characterized by various degrees of bleeding tendency with or without thrombocytopenia.Due to the lack of standardized evaluation system in laboratory test, the diagnosis and classification of IPFD are difficult.Thus, the incidence of IPFD may be underestimated.At present, combined with symptoms and laboratory tests, the second generation sequencing technology is conductive to the fast and accurate diagnosis of complex hemorrhagic diseases of this type and can prompt assessment and treatment.However, there still exists no effective targeted treatment for IPFD.This paper was aimed at introducing the diagnosis and treatment of IPFD.