title: Disorders of erythrocyte volume homeostasis.
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.
authors.affiliation: Departments of Pediatrics, Pathology and Genetics, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: E
authors.initials: E
authors.lastname: Glogowska
authors.affiliation: Departments of Pediatrics, Pathology and Genetics, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: P G
authors.initials: PG
authors.lastname: Gallagher
mesh_terms: D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics / Q000378:metabolism; D004911:Erythrocyte Volume; D004912:Erythrocytes / Q000378:metabolism*; D051272:Glucose Transporter Type 1 / Q000235:genetics / Q000378:metabolism; D006402:Hematologic Diseases / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D006706:Homeostasis; D006801:Humans; D009154:Mutation; D014867:Water / Q000378:metabolism; D014883:Water-Electrolyte Imbalance / Q000235:genetics
chemical_list: D001457:Anion Exchange Protein 1, Erythrocyte; D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D014867:Water
keywords: Band 3; Erythrocyte; GLUT1; PIEZO1; RhAG; stomatocytosis; volume homeostasis; xerocytosis