红细胞容量稳态紊乱。
Disorders of erythrocyte volume homeostasis.
作者信息
Glogowska E, Gallagher P G
机构信息
Departments of Pediatrics, Pathology and Genetics, Yale University School of Medicine, New Haven, CT, USA.
出版信息
Int J Lab Hematol. 2015 May;37 Suppl 1(0 1):85-91. doi: 10.1111/ijlh.12357.
Abstract
Inherited disorders of erythrocyte volume homeostasis are a heterogeneous group of rare disorders with phenotypes ranging from dehydrated to overhydrated erythrocytes. Clinical, laboratory, physiologic, and genetic heterogeneities characterize this group of disorders. A series of recent reports have provided novel insights into our understanding of the genetic bases underlying some of these disorders of red cell volume regulation. This report reviews this progress in understanding determinants that influence erythrocyte hydration and how they have yielded a better understanding of the pathways that influence cellular water and solute homeostasis.
摘要
红细胞体积稳态的遗传性疾病是一组异质性罕见疾病，其表型范围从红细胞脱水到红细胞水分过多。临床、实验室、生理和遗传异质性是这组疾病的特征。最近的一系列报告为我们理解这些红细胞体积调节紊乱背后的遗传基础提供了新的见解。本报告回顾了在理解影响红细胞水合作用的决定因素方面取得的这一进展，以及它们如何使我们更好地理解影响细胞水和溶质稳态的途径。
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