Diagnosis and treatment of inherited thrombocytopenias

被引：31

作者：

Pecci, A. ^{[1
,2
]}

机构：

[1] IRCCS Policlin San Matteo Fdn, Dept Internal Med, Piazzale Golgi, I-27100 Pavia, Italy

[2] Univ Pavia, Piazzale Golgi, I-27100 Pavia, Italy

来源：

CLINICAL GENETICS | 2016年 / 89卷 / 02期

关键词：

differential diagnosis; immune thrombocytopenia; inherited platelet disorders; inherited thrombocytopenia; treatment; HEMATOPOIETIC-CELL TRANSPLANTATION; WISKOTT-ALDRICH SYNDROME; AMEGAKARYOCYTIC THROMBOCYTOPENIA; CONGENITAL THROMBOCYTOPENIA; MYELODYSPLASTIC SYNDROMES; RADIOULNAR SYNOSTOSIS; GFI1B MUTATION; PLATELET SIZE; MANAGEMENT; PATIENT;

D O I：

10.1111/cge.12603

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Knowledge in the field of inherited thrombocytopenias (ITs) has greatly improved over the last 15years. Several new genes responsible for thrombocytopenia have been identified leading to the definition of novel nosographic entities and to a much better characterization of the phenotypes of these diseases. To date, ITs encompass 22 disorders caused by mutations in 24 genes and characterized by different degrees of complexity and great variability in prognosis. Making a definite diagnosis is important for setting an appropriate follow-up, choosing the best treatments and providing proper counseling. Despite the abovementioned progress, diagnosis of ITs remains difficult and these disorders are still underdiagnosed. The purpose of this review is to provide an updated guide to the diagnosis of ITs based on simple procedures. Moreover, the currently available therapeutic options for these conditions are recapitulated and discussed.

引用

页码：141 / 153

页数：13

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