血栓性微血管病：聚焦非典型溶血性尿毒症综合征
Thrombotic microangiopathy: focus on atypical hemolytic uremic syndrome.
作者信息
Sperati C John, Moliterno Alison R
机构信息
Division of Nephrology, Department of Medicine, The Johns Hopkins University School of Medicine, 1830 East Monument Street, Room 416, Baltimore, MD 21205, USA.
Division of Hematology, Department of Medicine, The Johns Hopkins University School of Medicine, 720 Rutland Avenue, Ross 1025, Baltimore, MD 21205, USA.
出版信息
Hematol Oncol Clin North Am. 2015 Jun;29(3):541-59. doi: 10.1016/j.hoc.2015.02.002. Epub 2015 Apr 4.
Thrombotic microangiopathies (TMA) such as atypical hemolytic uremic syndrome (aHUS) have evolved from rare, fulminant childhood afflictions to uncommon diseases with acute and chronic phases involving both children and adults. Breakthroughs in complement and coagulation regulation have allowed redefinition of specific entities despite substantial phenotypic mimicry. Reconciliation of phenotypes and delivery of life saving therapies require a multidisciplinary team of experts. The purpose of this review is to describe advances in the molecular pathophysiology of aHUS and to share the 2014 experience of the multidisciplinary Johns Hopkins TMA Registry in applying diagnostic assays, reporting disease associations, and genetic testing.
血栓性微血管病（TMA），如非典型溶血尿毒综合征（aHUS），已从罕见的暴发性儿童疾病演变为涉及儿童和成人的急性和慢性阶段的罕见疾病。尽管存在大量表型模拟，但补体和凝血调节方面的突破使得能够重新定义特定实体。协调表型并提供挽救生命的疗法需要多学科专家团队。本综述的目的是描述aHUS分子病理生理学的进展，并分享约翰霍普金斯大学多学科TMA注册中心2014年在应用诊断检测、报告疾病关联和基因检测方面的经验。
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