Diagnosis and treatment of inherited platelet function disorders / 中华实用儿科临床杂志

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.