title: Erythrocyte pyruvate kinase deficiency: 2015 status report.
abstract: 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.
authors.affiliation: Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, Massachusetts.
authors.forename: Rachael F
authors.initials: RF
authors.lastname: Grace
authors.affiliation: Fondazione IRCCS Ca'Granda, Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Zanella
authors.affiliation: Dana-Farber/Boston Children's Cancer and Blood Disorder Center, Boston, Massachusetts.
authors.forename: Ellis J
authors.initials: EJ
authors.lastname: Neufeld
authors.affiliation: Clinic for Special Children, Lancaster General Hospital, Lancaster, Pennsylvania.
authors.forename: D Holmes
authors.initials: DH
authors.lastname: Morton
authors.affiliation: Schwerpunktpraxis Für Pädiatrische Hämatologie and Hämostaseologie, and Children's Hospital of the Technical University, Munich, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Eber
authors.affiliation: Primary Children's Hospital, University of Utah, Salt Lake City, Utah.
authors.forename: Hassan
authors.initials: H
authors.lastname: Yaish
authors.affiliation: Department, of Pediatrics and Pathology, Stanford University, Lucile Packard Children's Hospital, Palo Alto, California.
authors.forename: Bertil
authors.initials: B
authors.lastname: Glader
mesh_terms: D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology / Q000473:pathology / Q000601:surgery / Q000628:therapy*; D002648:Child; D019468:Disease Management; D017707:Erythrocyte Transfusion; D005078:Exchange Transfusion, Whole Blood; D006801:Humans; D007231:Infant, Newborn; D010789:Phototherapy; D011770:Pyruvate Kinase / Q000172:deficiency*; D015323:Pyruvate Metabolism, Inborn Errors / Q000201:enzymology / Q000473:pathology / Q000601:surgery / Q000628:therapy*; D013156:Splenectomy
chemical_list: D011770:Pyruvate Kinase