2024
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld E, Rees D, Chonat S, Kuo K, Rothman J, Barcellini W, van Beers E, Pospíšilová D, Shah A, van Wijk R, Glader B, Mañú Pereira M, Andres O, Kalfa T, Eber S, Gallagher P, Kwiatkowski J, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace R. Diagnosis and management of pyruvate kinase deficiency: international expert guidelines. The Lancet Haematology 2024, 11: e228-e239. PMID: 38330977, DOI: 10.1016/s2352-3026(23)00377-0.Peer-Reviewed Original ResearchExpert panelCountry of practiceCare of patientsEvidence-based guidelinesQuality of lifeClinical care of patientsPyruvate kinase deficiencySystematic literature searchDeficient careGuideline methodologistsPK deficiencyClinical careClinical guidelinesInternational expert guidelinesEstimated prevalenceHaemolytic anaemiaConsensus procedureManagement of chronic complicationsDraft recommendationsGRADE methodologyAGREE II frameworkExpert guidelinesLiterature searchClinical practiceInternational guidelines
2018
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood 2018, 131: 2183-2192. PMID: 29549173, DOI: 10.1182/blood-2017-10-810796.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAnemia, Hemolytic, Congenital NonspherocyticBlood TransfusionChildChild, PreschoolCholecystectomyCombined Modality TherapyEnzyme ActivationFemaleGenetic Association StudiesGenotypeHumansInfantInfant, NewbornMaleMiddle AgedMutationPhenotypePyruvate KinasePyruvate Metabolism, Inborn ErrorsSplenectomySymptom AssessmentTreatment OutcomeYoung AdultConceptsIron overloadHemolytic anemiaPyruvate kinase deficiencyChildren age 5 yearsProspective clinical dataPK deficiencySeverity of anemiaKinase deficiencyNatural history studiesAge 5 yearsCongenital nonspherocytic hemolytic anemiaCongenital hemolytic anemiaBaseline hemoglobinPostsplenectomy thrombosisMulticenter registryPostsplenectomy sepsisPulmonary hypertensionSimultaneous cholecystectomyFrequent complicationPerinatal complicationsTransfusion burdenAplastic crisisExchange transfusionLeg ulcersRadiologic data