Definitions of the phenotypic manifestations of sickle cell disease.
Definitions of the phenotypic manifestations of sickle cell disease.
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DOI：
10.1002/ajh.21550
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发表时间：
2010-01
影响因子：
12.8
通讯作者：
Telen, Marilyn J.
中科院分区：
文献类型：
--
作者：
Ballas, Samir K.;Lieff, Susan;Benjamin, Lennette J.;Dampier, Carlton D.;Heeney, Matthew M.;Hoppe, Carolyn;Johnson, Cage S.;Rogers, Zora R.;Smith-Whitley, Kim;Wang, Winfred C.;Telen, Marilyn J.
镰状细胞病（SCD）是一种具有深刻多器官影响的血红蛋白多效性遗传性疾病。SCD的低患病率（~ 100，000/US）限制了临床、基础和转化研究的进展。缺乏大量易于获得的临床研究人群导致了SCD众多并发症的标准定义和诊断标准的缺乏以及对SCD病理生理学的理解不足。2005年，镰状细胞综合中心启动了一个项目，以确定最常见并发症的共识定义。一组在SCD研究和治疗方面具有广泛专业知识的临床医生和科学家聚集在一起，以确定和分类最常见的并发症。从这个小组中，形成了一个正式的写作小组，进一步审查文献，寻求专家的投入，并以标准格式产生定义。本手稿概述了该过程，并描述了12个身体系统类别以及这些类别中最常见或最严重的并发症。详细的附录提供了每个系统内识别的所有并发症的标准化定义。本报告建议将这些定义用于SCD并发症的研究，因此未来的研究可以更加稳健，并测量治疗效果。使用这些定义将支持基因型-表型研究的更高准确性，从而更好地理解SCD的病理生理学。然而，这应该被视为一个动态的，而不是最终的文件;表型描述应定期重新评估和修订，以提供最新的标准定义，因为病因因素更好地理解和新的诊断方法的开发。
Sickle cell disease (SCD) is a pleiotropic genetic disorder of hemoglobin that has profound multi-organ effects. The low prevalence of SCD (~100,000/US) has limited progress in clinical, basic, and translational research. Lack of a large, readily accessible population for clinical studies has contributed to the absence of standard definitions and diagnostic criteria for the numerous complications of SCD and inadequate understanding of SCD pathophysiology. In 2005, the Comprehensive Sickle Cell Centers initiated a project to establish consensus definitions of the most frequently occurring complications. A group of clinicians and scientists with extensive expertise in research and treatment of SCD gathered to identify and categorize the most common complications. From this group, a formal writing team was formed that further reviewed the literature, sought specialist input, and produced definitions in a standard format. This manuscript provides an overview of the process and describes twelve body system categories and the most prevalent or severe complications within these categories. A detailed Appendix provides standardized definitions for all complications identified within each system. This report proposes use of these definitions for studies of SCD complications, so future studies can be comparably robust and treatment efficacy measured. Use of these definitions will support greater accuracy in genotype-phenotype studies, thereby achieving a better understanding of SCD pathophysiology. This should nevertheless be viewed as a dynamic rather than final document; phenotype descriptions should be reevaluated and revised periodically to provide the most current standard definitions as etiologic factors are better understood and new diagnostic options are developed.
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影响因子：
120.7
作者：
Barnett, Christopher F.;Hsue, Priscilla Y.;Machado, Roberto F.
通讯作者：
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影响因子：
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作者：
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作者：
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影响因子：
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作者：
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通讯作者：
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