Prchal Josef T
Section of Hematology/Oncology, Baylor College of Medicine, One Baylor Plaza, MS 525D, Houston, TX 77030, USA.
Hematol Oncol Clin North Am. 2003 Oct;17(5):1151-8, vi. doi: 10.1016/s0889-8588(03)00090-x.
In this article, polycythemic disorders are classified based on the current understanding of biology of erythropoieses and divided into primary and secondary polycythemias. Special emphasis is given to recently uncovered molecular bases of newly described congenital polycythemic disorders. This clarification of the pathophysiology of some of the congenital polycythemic states has obvious utility for more accurate diagnosis and rational prognostic determination. The molecular basis of congenital thrombocytoses is only beginning to be uncovered. In contrast, the molecular bases of polycythemia vera and essential thrombocythemia remain unknown, thus their diagnostic criteria are imprecise and their treatment remains largely empirical. The central premise of this article is that deciphering the molecular basis of human diseases leads to improved understanding of hematopoiesis, precise diagnosis, and the potential for development of a specific therapy.
在本文中，红细胞增多症根据目前对红细胞生成生物学的理解进行分类，分为原发性和继发性红细胞增多症。特别强调了新描述的先天性红细胞增多症最近发现的分子基础。对某些先天性红细胞增多症状态病理生理学的这种阐明对于更准确的诊断和合理的预后判定具有明显的实用价值。先天性血小板增多症的分子基础才刚刚开始被揭示。相比之下，真性红细胞增多症和原发性血小板增多症的分子基础仍然未知，因此它们的诊断标准不精确，治疗在很大程度上仍然是经验性的。本文的核心前提是，破译人类疾病的分子基础有助于增进对造血作用的理解、实现精确诊断以及开发特异性疗法的潜力。
