Disorders of erythrocyte volume homeostasis

Summary 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 repo...

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Veröffentlicht in:International journal of laboratory hematology 2015-05, Vol.37 (S1), p.85-91
Hauptverfasser: Glogowska, E., Gallagher, P. G.
Format: Artikel
Sprache:eng
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Zusammenfassung:Summary 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.
ISSN:1751-5521
1751-553X
DOI:10.1111/ijlh.12357