Inherited Platelet Disorders: A Short Introduction

被引：3

作者：

Zieger, Barbara ^{[1
,2
]}

Boeckelmann, Doris ^{[1
]}

机构：

[1] Univ Freiburg, Med Ctr, Dept Pediat & Adolescent Med, Div Pediat Hematol & Oncol, Freiburg, Germany

[2] Univ Med Ctr Freiburg, Dept Pediat & Adolescent Med, Div Pediat Hematol & Oncol, Mathildenstr 1, D-79106 Freiburg, Germany

来源：

HAMOSTASEOLOGIE | 2023年 / 43卷 / 01期

关键词：

inherited platelet disorders; next-generation sequencing; Hermansky-Pudlak syndrome; GNE; GRISCELLI-SYNDROME; MUTATIONS; MACROTHROMBOCYTOPENIA; CLEARANCE; CHAIN;

D O I：

10.1055/a-1987-3310

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Platelets play an important role regarding coagulation by contributing to thrombus formation by platelet adhesion, aggregation, and alpha-/delta-granule secretion. Inherited platelet disorders (IPDs) are a very heterogeneous group of disorders that are phenotypically and biochemically diverse. Platelet dysfunction (thrombocytopathy) can be accompanied by a reduction in the number of thrombocytes (thrombocytopenia). The extent of the bleeding tendency can vary greatly. Symptoms comprise mucocutaneous bleeding (petechiae, gastrointestinal bleeding and/or menorrhagia, epistaxis) and increased hematoma tendency. Life-threatening bleeding can occur after trauma or surgery. In the last years, next-generation sequencing had a great impact on unrevealing the underlying genetic cause of individual IPDs. Because IPDs are so diverse, a comprehensive analysis of platelet function and genetic testing is indispensable.

引用

页码：52 / 59

页数：8

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