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Diagnosis and management of pyruvate kinase deficiency: international expert guidelines
H. Al-Samkari, N. Shehata, K. Lang-Robertson, P. Bianchi, A. Glenthøj, S. Sheth, EJ. Neufeld, DC. Rees, S. Chonat, KHM. Kuo, JA. Rothman, W. Barcellini, EJ. van Beers, D. Pospíšilová, AJ. Shah, R. van Wijk, B. Glader, MDM. Mañú Pereira, O....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, směrnice pro lékařskou praxi, přehledy
- MeSH
- hemolytická nesférocytická kongenitální anemie * diagnóza terapie MeSH
- kvalita života MeSH
- lidé MeSH
- pyruvátkinasa * nedostatek MeSH
- vrozené poruchy metabolismu pyruvátu * diagnóza terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- směrnice pro lékařskou praxi MeSH
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.
Centre for Effective Practice Toronto ON Canada
Centre of Inherited Blood Cell Disorders University Hospital Würzburg Würzburg Germany
Dana Farber Boston Children's Cancer and Blood Disorders Center Harvard Medical School Boston MA USA
Department of Hematology St Jude Children's Research Hospital Memphis TN USA
Department of Paediatric Haematology King's College London King's College Hospital London UK
Division of Hematology Oncology Massachusetts General Hospital Harvard Medical School Boston MA USA
Division of Pediatric Hematology Oncology Weill Cornell Medicine New York NY USA
Duke University Medical Center Durham NC USA
Pediatric Hematology Oncology Children's Healthcare of Atlanta Emory University Atlanta GA USA
Pyruvate Kinase Deficiency Foundation Walled Lake MI USA
Rare Blood Diseases Foundation Arnhem Netherlands
Thalassemia International Federation Nicosia Cyprus
Thrive with Pyruvate Kinase Deficiency Foundation Bloomington MN USA
Unit for Red Cell Genetic Disorders Henri Mondor Hospital Créteil France
Citace poskytuje Crossref.org
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- $a 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.
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