Disorders of erythrocyte volume homeostasis.

Disorders of erythrocyte volume homeostasis.
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DOI:
10.1111/ijlh.12357
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发表时间:
2015-05
影响因子:
3
通讯作者:
Gallagher PG
Gallagher PG
中科院分区:
医学4区
文献类型:
--
作者:
Glogowska E;Gallagher PG

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遗传性红细胞体积动态平衡障碍是一组罕见的异质性疾病,其表型范围从脱水到过度水合的红细胞。临床、实验室、生理和遗传异质性是这组疾病的特征。最近的一系列报道为我们理解这些红细胞体积调节障碍的遗传基础提供了新的见解。本报告回顾了这方面的进展,了解影响红细胞水合作用的决定因素,以及他们如何产生了更好的理解的途径,影响细胞水和溶质的稳态。
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 heterogeneity 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.
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