Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Author:

Grace Rachael F.1ORCID,Bianchi Paola2,van Beers Eduard J.3,Eber Stefan W.4,Glader Bertil5,Yaish Hassan M.6,Despotovic Jenny M.7,Rothman Jennifer A.8,Sharma Mukta9,McNaull Melissa M.10,Fermo Elisa2,Lezon-Geyda Kimberly11,Morton D. Holmes1213,Neufeld Ellis J.14,Chonat Satheesh15,Kollmar Nina16,Knoll Christine M.17,Kuo Kevin18,Kwiatkowski Janet L.19,Pospíšilová Dagmar20,Pastore Yves D.21,Thompson Alexis A.22,Newburger Peter E.23,Ravindranath Yaddanapudi24,Wang Winfred C.14,Wlodarski Marcin W.25,Wang Heng26,Holzhauer Susanne27,Breakey Vicky R.28,Kunz Joachim29,Sheth Sujit30,Rose Melissa J.31,Bradeen Heather A.32,Neu Nolan1,Guo Dongjing1,Al-Sayegh Hasan1,London Wendy B.1,Gallagher Patrick G.11,Zanella Alberto2,Barcellini Wilma2

Affiliation:

1. Dana-Farber/Boston Children’s Cancer and Blood Disorder Center, Boston, MA;

2. Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy;

3. Universitair Medisch Centrum Utrecht, Utrecht, The Netherlands;

4. Schwerpunktpraxis für Pädiatrische Hämatologie-Onkologie, Munich, Germany;

5. Lucile Packard Children’s Hospital, Stanford University, Palo Alto, CA;

6. Primary Children’s Hospital, University of Utah, Salt Lake City, UT;

7. Texas Children’s Hematology Center, Baylor College of Medicine, Houston, TX;

8. Duke University Medical Center, Durham, NC;

9. Children’s Mercy Hospital, Kansas City, MO;

10. University of Mississippi Medical Center, Jackson, MS;

11. Yale University School of Medicine, New Haven, CT;

12. Central Pennsylvania Clinic for Special Children and Adults, Belleville, PA;

13. Lancaster General Hospital, Lancaster, PA;

14. St. Jude Children’s Research Hospital, Memphis, TN;

15. Emory University School of Medicine, Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, Atlanta, GA;

16. Klinikum Kassel GmbH, Kassel, Germany;

17. Phoenix Children’s Hospital, Phoenix, AZ;

18. University of Toronto, University Health Network, Toronto, ON, Canada;

19. Children’s Hospital of Pennsylvania and Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA;

20. Fakultni Nemocnice Olomouc, Olomouc, Czech Republic;

21. Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC, Canada;

22. Ann and Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL;

23. University of Massachusetts Memorial Children’s Medical Center, Worcester, MA;

24. Children’s Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI;

25. Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany;

26. DDC Clinic for Special Needs Children, Middlefield, OH;

27. Charite, Berlin, Germany;

28. McMaster University, Hamilton, ON, Canada;

29. Zentrum für Kunder-und Jugendmedizin, Heidelberg, Germany;

30. Weill Cornell Medical College, New York Presbyterian Hospital, New York, NY;

31. Nationwide Children’s Hospital, The Ohio State University College of Medicine, Columbus, OH; and

32. The University of Vermont Children’s Hospital, Burlington, VT

Abstract

Key Points PK deficiency manifests a broad spectrum in anemia severity that moderately improves after splenectomy. Close attention to monitoring for iron overload, gallstones, and other complications is recommended in all patients with PK deficiency.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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