Ballmaier Matthias, Germeshausen Manuela
Department of Paediatric Haematology and Oncology, Hannover Medical School, Hannover, Germany.
Br J Haematol. 2009 Jun;146(1):3-16. doi: 10.1111/j.1365-2141.2009.07706.x. Epub 2009 Apr 21.
Congenital amegakaryocytic thrombocytopenia (MIM #604498) is an extremely rare inherited bone marrow failure syndrome, usually presenting as a severe thrombocytopenia at birth due to ineffective megakaryocytopoiesis and no characteristic physical anomalies. Usually the isolated thrombocytopenia progresses to pancytopenia during the first years of life. The only curative therapy to date is haematopoietic stem cell transplantation. Most of the cases of congenital amegakaryocytic thrombocytopenia are caused by defective expression or function of the thrombopoietin receptor due to homozygous or compound heterozygous mutations in the gene MPL. The essential roles of thrombopoietin as a lineage specific regulator of platelet production and as a regulator of haematopoietic stem cell function are reflected in the haematological defects seen in affected individuals.
先天性无巨核细胞性血小板减少症（MIM #604498）是一种极其罕见的遗传性骨髓衰竭综合征，通常因巨核细胞生成无效在出生时表现为严重血小板减少，且无特征性身体异常。通常，孤立性血小板减少症在生命的最初几年会发展为全血细胞减少症。迄今为止，唯一的治愈性疗法是造血干细胞移植。大多数先天性无巨核细胞性血小板减少症病例是由于MPL基因的纯合或复合杂合突变导致血小板生成素受体表达或功能缺陷所致。血小板生成素作为血小板生成的谱系特异性调节因子以及造血干细胞功能调节因子的重要作用，体现在受影响个体出现的血液学缺陷中。
