期刊
JOURNAL OF CLINICAL MEDICINE
卷 10, 期 3, 页码 -出版社
MDPI
DOI: 10.3390/jcm10030533
关键词
inherited thrombocytopenias; platelets; bleeding
资金
- Fondazione Umberto Veronesi
Inherited thrombocytopenias are a group of hereditary disorders characterized by reduced platelet count and abnormal function, with at least 41 disorders caused by mutations in 42 different genes identified so far. While pathogenic mechanisms for many forms have been identified, further research is needed to improve diagnostic rate and patient care for those who remain undiagnosed.
Inherited thrombocytopenias (IT) are a group of hereditary disorders characterized by a reduced platelet count sometimes associated with abnormal platelet function, which can lead to bleeding but also to syndromic manifestations and predispositions to other disorders. Currently at least 41 disorders caused by mutations in 42 different genes have been described. The pathogenic mechanisms of many forms of IT have been identified as well as the gene variants implicated in megakaryocyte maturation or platelet formation and clearance, while for several of them the pathogenic mechanism is still unknown. A range of therapeutic approaches are now available to improve survival and quality of life of patients with IT; it is thus important to recognize an IT and establish a precise diagnosis. ITs may be difficult to diagnose and an initial accurate clinical evaluation is mandatory. A combination of clinical and traditional laboratory approaches together with advanced sequencing techniques provide the highest rate of diagnostic success. Despite advancement in the diagnosis of IT, around 50% of patients still do not receive a diagnosis, therefore further research in the field of ITs is warranted to further improve patient care.
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