TY - JOUR
T1 - Addressing the diagnostic gaps in pyruvate kinase deficiency
T2 - Consensus recommendations on the diagnosis of pyruvate kinase deficiency
AU - Bianchi, Paola
AU - Fermo, Elisa
AU - Glader, Bertil
AU - Kanno, Hitoshi
AU - Agarwal, Archana
AU - Barcellini, Wilma
AU - Eber, Stefan
AU - Hoyer, James D.
AU - Kuter, David J.
AU - Maia, Tabita Magalhães
AU - Mañu-Pereira, Maria del Mar
AU - Kalfa, Theodosia A.
AU - Pissard, Serge
AU - Segovia, José Carlos
AU - van Beers, Eduard
AU - Gallagher, Patrick G.
AU - Rees, David C.
AU - van Wijk, Richard
N1 - Funding Information:
The authors wish to sincerely thank Pavla Koralkova for preparing Supporting Information Figure S3; Cristina Vercellati (Fondazione IRCCS Ca? Granda Ospedale Maggiore Policlinico, Milano), Wietske Fennis (UMCU??Utrecht) and Carolyn Wong CLS, MT(ASCP) (Stanford University School of Medicine) for performing biochemical assays. The authors wish also thanks the participants to the International Working Group organized to identify the current diagnostic gaps in diagnosing PK deficiency and Agios Pharmaceutics for the organizational support. The list of participants and their affiliations is reported in Supporting Information.
Publisher Copyright:
© 2018 Wiley Periodicals, Inc.
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. By the creation of a global PKD International Working Group in 2016, involving 24 experts from 20 Centers of Expertise we studied the current gaps in the diagnosis of PKD in order to establish diagnostic guidelines. By means of a detailed survey and subsequent discussions, multiple aspects of the diagnosis of PKD were evaluated and discussed by members of Expert Centers from Europe, USA, and Asia directly involved in diagnosis. Broad consensus was reached among the Centers on many clinical and technical aspects of the diagnosis of PKD. The results of this study are here presented as recommendations for the diagnosis of PKD and used to prepare a diagnostic algorithm. This information might be helpful for other Centers to deliver timely and appropriate diagnosis and to increase awareness in PKD.
AB - Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. By the creation of a global PKD International Working Group in 2016, involving 24 experts from 20 Centers of Expertise we studied the current gaps in the diagnosis of PKD in order to establish diagnostic guidelines. By means of a detailed survey and subsequent discussions, multiple aspects of the diagnosis of PKD were evaluated and discussed by members of Expert Centers from Europe, USA, and Asia directly involved in diagnosis. Broad consensus was reached among the Centers on many clinical and technical aspects of the diagnosis of PKD. The results of this study are here presented as recommendations for the diagnosis of PKD and used to prepare a diagnostic algorithm. This information might be helpful for other Centers to deliver timely and appropriate diagnosis and to increase awareness in PKD.
UR - http://www.scopus.com/inward/record.url?scp=85057816461&partnerID=8YFLogxK
U2 - 10.1002/ajh.25325
DO - 10.1002/ajh.25325
M3 - Article
C2 - 30358897
AN - SCOPUS:85057816461
SN - 0361-8609
VL - 94
SP - 149
EP - 161
JO - American Journal of Hematology
JF - American Journal of Hematology
IS - 1
ER -