Pecci A
Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
Clin Genet. 2016 Feb;89(2):141-53. doi: 10.1111/cge.12603. Epub 2015 May 20.
Knowledge in the field of inherited thrombocytopenias (ITs) has greatly improved over the last 15 years. 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.
在过去15年里，遗传性血小板减少症（ITs）领域的知识有了很大进步。已经确定了几个导致血小板减少的新基因，从而明确了新的疾病分类实体，并对这些疾病的表型有了更好的描述。迄今为止，ITs包括由24个基因的突变引起的22种疾病，其特点是复杂性程度不同，预后差异很大。做出明确诊断对于进行适当的随访、选择最佳治疗方法以及提供正确的咨询建议很重要。尽管有上述进展，但ITs的诊断仍然困难，这些疾病仍未得到充分诊断。本综述的目的是提供一份基于简单程序的ITs诊断最新指南。此外，还概述并讨论了目前针对这些病症的可用治疗选择。
