Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.

Autor:	Al-Samkari H; Division of Hematology Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: hal-samkari@mgh.harvard.edu., Shehata N; Departments of Medicine and Laboratory Medicine and Pathobiology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada., Lang-Robertson K; Centre for Effective Practice, Toronto, ON, Canada., Bianchi P; Hematology Unit, Pathophysiology of Anemias Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Glenthøj A; Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Sheth S; Division of Pediatric Hematology/Oncology, Weill Cornell Medicine, New York, NY, USA., Neufeld EJ; Department of Hematology, St Jude Children's Research Hospital, Memphis, TN, USA., Rees DC; Department of Paediatric Haematology, King's College London, King's College Hospital, London, UK., Chonat S; Pediatric Hematology/Oncology, Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA., Kuo KHM; Division of Medical Oncology and Hematology, University Health Network, University of Toronto, ON, Canada., Rothman JA; Duke University Medical Center, Durham, NC, USA., Barcellini W; Hematology Unit, Pathophysiology of Anemias Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., van Beers EJ; Benign Hematology Center, Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, Netherlands., Pospíšilová D; Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University and University Hospital Olomouc, Olomouc, Czech Republic., Shah AJ; Division of Stem Cell Transplantation and Regenerative Medicine, Lucile Packard Children Hospital, Stanford School of Medicine, Palo Alto, CA, USA., van Wijk R; Central Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands., Glader B; Division of Pediatric Hematology/Oncology, Lucile Packard Children Hospital, Stanford School of Medicine, Palo Alto, CA, USA., Mañú Pereira MDM; Rare Anaemia Disorders Research Laboratory, Institut de Recerca - Hospital Universitari Vall d'Hebron, Barcelona, Spain., Andres O; Centre of Inherited Blood Cell Disorders, University Hospital Würzburg, Würzburg, Germany., Kalfa TA; Division of Hematology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Eber SW; Department of Pediatrics, Practice for Pediatric Hematology and Hemostaseology, University Children's Hospital, Technical University, Munich, Germany., Gallagher PG; Department of Pediatrics, Center for Perinatal Research, Abigail Wexner Research Institute, Nationwide Children's Hospital, Ohio State University, Columbus, OH, USA., Kwiatkowski JL; Division of Hematology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Galacteros F; Unit for Red Cell Genetic Disorders, Henri Mondor Hospital, Créteil, France., Lander C; Thrive with Pyruvate Kinase Deficiency Foundation, Bloomington, MN, USA., Watson A; Pyruvate Kinase Deficiency Foundation, Walled Lake, MI, USA., Elbard R; Thalassemia International Federation, Nicosia, Cyprus., Peereboom D; Rare Blood Diseases Foundation, Arnhem, Netherlands., Grace RF; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA.
Jazyk:	angličtina
Zdroj:	The Lancet. Haematology [Lancet Haematol] 2024 Mar; Vol. 11 (3), pp. e228-e239. Date of Electronic Publication: 2024 Feb 05.
DOI:	10.1016/S2352-3026(23)00377-0
Abstrakt:	Pyruvate kinase (PK) deficiency is the most common cause of chronic congenital non-spherocytic haemolytic anaemia worldwide, with an estimated prevalence of one in 100 000 to one in 300 000 people. PK deficiency results in chronic haemolytic anaemia, with wide ranging and serious consequences affecting health, quality of life, and mortality. The goal of the International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency was to develop evidence-based guidelines for the clinical care of patients with PK deficiency. These clinical guidelines were developed by use of GRADE methodology and the AGREE II framework. Experts were invited after consideration of area of expertise, scholarly contributions in PK deficiency, and country of practice for global representation. The expert panel included 29 expert physicians (including adult and paediatric haematologists and other subspecialists), geneticists, laboratory specialists, nurses, a guidelines methodologist, patients with PK deficiency, and caregivers from ten countries. Five key topic areas were identified, the panel prioritised key questions, and a systematic literature search was done to generate evidence summaries that were used in the development of draft recommendations. The expert panel then met in person to finalise and vote on recommendations according to a structured consensus procedure. Agreement of greater than or equal to 67% among the expert panel was required for inclusion of a recommendation in the final guideline. The expert panel agreed on 31 total recommendations across five key topics: diagnosis and genetics, monitoring and management of chronic complications, standard management of anaemia, targeted and advanced therapies, and special populations. These new guidelines should facilitate best practices and evidence-based PK deficiency care into clinical practice. Competing Interests: Declaration of interests HA-S reports grants or contracts in research funding to their institution from Agios, Sobi, Vaderis, Novartis, and Amgen and reports consulting fees from Agios, Sobi, Novartis, Argenx, Rigel, Moderna, Forma, and Pharmacosmos. SWE reports receiving support for attending meetings, travel, or both from Agios and is on data safety monitoring boards or advisory boards for Agios. JAR reports grants or contracts from Pfizer, Agios, Novartis, Sanofi, Sobi, and Dova, and is on data safety monitoring boards or advisory boards for Agios, Global Blood Therapeutics, and Novartis. SS reports grants or contracts from Bristol-Myers Squibb/Celgene, Forma, and Agios; reports consulting fees from Agios, Bluebird Bio, Fulcrum, Chiesi, Bristol-Myers Squibb/Celgene, and Vertex); reports honoraria from Plexus, Clinical Care Options, and Physicians' Education Resource; reports receiving support for attending meetings, travel, or both from Agios, Bristol-Myers Squibb/Celgene and Bluebird Bio; and is on data safety monitoring boards or advisory boards for CRISPR/Vertex. KL-R reports funding provided to the Centre for Effective Practice (an independent not for profit corporation) to conduct the systematic literature review in this work. DCR is on data safety monitoring boards or advisory boards for Agios. AW reports receiving support for attending meetings, travel, or both from Agios and reports being in leadership in an advocacy group (the Pyruvate Kinase Deficiency Foundation). CL reports receiving support for attending meetings, travel, or both from Agios and reports being in leadership in an advocacy group (Metabolic Support UK). EJN reports consulting fees from Saliogen, reports receiving support for attending meetings, travel, or both from Agios; reports stock or stock options in Saliogen; and is on data safety monitoring boards or advisory boards for Agios, Imara, Merck/Acceleron, Sobi, and Pfizer. PB reports grants or contracts from Agios; reports honoraria from Rocket; reports support for attending meetings, travel, or both from Agios; and is on data safety monitoring boards or advisory boards for Agios. RFG reports grants or contracts from Agios, Novartis, and Sobi; reports consulting fees from Agios; is on data safety monitoring boards or advisory boards (Sanofi); and reports being in leadership in other boards, societies, committees, or advocacy groups (PK Deficiency Advocacy Advisory Council, Thrive with PK Deficiency, and Rare Anemias International Network). DPe reports receiving support for attending meetings, travel, or both from Eurobloodnet; is on data safety monitoring boards or advisory boards for Eurobloodnet; and reports being in a leadership role in an advocacy group (Stichting Zeldzame Bloedziekten). WB reports consulting fees from Alexion, Agios, Novartis, Sobi, and Sanofi; reports honoraria from Agios, Novartis, and Sanofi; reports receiving support for attending meetings, travel, or both from Sanofi; and is on data safety monitoring boards or advisory boards for Novartis. AJS is on data safety monitoring boards or advisory boards for Vertex and Bluebird Bio. NS reports receiving support for attending meetings, travel, or both from Agios. OA reports grants or contracts from Agios; reports honoraria from Agios; reports receiving support for attending meetings, travel, or both from the German, Austrian, and Swiss Society for Pediatric Oncology and Hematology, the German Society for Neonatology and Pediatric Intensive Care, and Agios; and is on data safety monitoring boards or advisory boards for Agios. AG reports grants or contracts from Agios, Bristol-Myers Squibb, Novo Nordisk, Saniona, and Sanofi; reports consulting fees from Agios, Novo Nordisk, Pharmacosmos, and Vertex; and reports receiving support for attending meetings, travel, or both from AbbVie. MDMMP reports grants or contracts from Agios and is on data safety monitoring boards or advisory boards for Agios. SC reports grants or contracts in research funding to their institution from Agios; reports consulting fees from Agios; and is on data safety monitoring boards or advisory boards for Agios. EJvB reports grants or contracts in research funding to their institution from Agios and Horizon Europe; reports consulting fees from Bristol-Myers Squibb and Agios; is on data safety monitoring boards or advisory boards for Imara Pharmaceuticals; and reports being in a leadership role in other boards (Sickle Cell Outcome Registry Research The Netherlands and Eurobloodnet). JLK reports consulting fees from Forma, Agios, and Chiesi and is on data safety monitoring boards or advisory boards for Agios. TAK reports grants to contracts in research funding to their institution from Agios, Forma, and Novo Nordisk); reports consulting fees from Forma and Novo Nordisk; and is on data safety monitoring boards or advisory boards for Agios, Forma, and Novo Nordisk). FG is on data safety monitoring boards or advisory boards for Addmedica, Vertex, Agios, Global Blood Therapeutics, and Novartis. KHMK reports grants or contracts from Agios and Pfizer; reports consulting fees from Alexion, Agios, Bristol-Myers Squibb, Forma, Pfizer, Novo Nordisk, and Vertex); reports honoraria from Agios and Bristol-Myers Squibb; and is on data safety monitoring boards or advisory boards for Bioverativ, Sanofi, and Sangamo. All other authors report no competing interests. (Copyright © 2024 Elsevier Ltd. All rights reserved.)
Databáze:	MEDLINE
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