Erythrocyte pyruvate kinase deficiency: 2015 status report

Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency (PKD) has expanded. Nonetheless, there remain significant gaps in our knowledge with regard to clinical care and m...

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Bibliographic Details
Published in:	American journal of hematology Vol. 90; no. 9; pp. 825 - 830
Main Authors:	Grace, Rachael F., Zanella, Alberto, Neufeld, Ellis J., Morton, D. Holmes, Eber, Stefan, Yaish, Hassan, Glader, Bertil
Format:	Journal Article
Language:	English
Published:	United States Wiley Subscription Services, Inc 01-09-2015 John Wiley and Sons Inc
Subjects:	Adult Anemia, Hemolytic, Congenital Nonspherocytic - enzymology Anemia, Hemolytic, Congenital Nonspherocytic - pathology Anemia, Hemolytic, Congenital Nonspherocytic - surgery Anemia, Hemolytic, Congenital Nonspherocytic - therapy Child Critical Review Disease Management Erythrocyte Transfusion Exchange Transfusion, Whole Blood Hematology Humans Infant, Newborn Phototherapy Pyruvate Kinase - deficiency Pyruvate Metabolism, Inborn Errors - enzymology Pyruvate Metabolism, Inborn Errors - pathology Pyruvate Metabolism, Inborn Errors - surgery Pyruvate Metabolism, Inborn Errors - therapy Splenectomy
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Summary:	Over the last several decades, our understanding of the genetic variation, pathophysiology, and complications of the hemolytic anemia associated with red cell pyruvate kinase deficiency (PKD) has expanded. Nonetheless, there remain significant gaps in our knowledge with regard to clinical care and monitoring. Treatment remains supportive with phototherapy and/or exchange transfusion in the newborn period, regular or intermittent red cell transfusions in children and adults, and splenectomy to decrease transfusion requirements and/or anemia related symptoms. In this article, we review the clinical diversity of PKD, the current standard of treatment and for supportive care, the complications observed, and future treatment directions.Am. J. Hematol. 90:825–830, 2015. © 2015 Wiley Periodicals, Inc.
Bibliography:	R.G., A.Z., E.N., D.H.M., S.E., H.Y., and B.G. are scientific advisors for Agios Pharmaceuticals. R.G. is the P.I. of the Pyruvate Kinase Deficiency Natural History Study (NCT02053480), which is sponsored by Agios Pharmaceuticals. R.G. and B.G. assembled the co‐authors based on clinical expertise and prior publications in pyruvate kinase deficiency. The content of this manuscript was conceived, prepared, and written by the authors alone, independent of Agios Pharmaceuticals or any other commercial entity. R.G. and B.G. wrote the first draft of the manuscript, which was revised and commented by A.Z., E.N., D.H.M., S.E., and H.Y. Conflict of interest : ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-3 content type line 23 ObjectType-Review-1
ISSN:	0361-8609 1096-8652
DOI:	10.1002/ajh.24088