综述：镰状细胞病的临床严重程度：定义与预后的挑战
Minireview: Clinical severity in sickle cell disease: the challenges of definition and prognostication.
作者信息
Quinn Charles T
机构信息
Division of Hematology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45220, USA
出版信息
Exp Biol Med (Maywood). 2016 Apr;241(7):679-88. doi: 10.1177/1535370216640385. Epub 2016 Mar 23.
Abstract
Sickle cell disease (SCD) is a monogenic, yet highly phenotypically variable disease with multisystem pathology. This manuscript provides an overview of many of the known determinants, modifiers, and correlates of disease severity in SCD. Despite this wealth of data, modeling the variable and multisystem pathology of SCD continues to be difficult. The current status of prediction of specific adverse outcomes and global disease severity in SCD is also reviewed, highlighting recent successes and ongoing challenges.
摘要
镰状细胞病（SCD）是一种单基因疾病，但具有高度可变的表型和多系统病理特征。本文概述了许多已知的SCD疾病严重程度的决定因素、调节因素和相关因素。尽管有大量数据，但对SCD的可变多系统病理进行建模仍然很困难。本文还综述了SCD中特定不良结局和整体疾病严重程度预测的现状，突出了近期的成功和持续面临的挑战。
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