Cargando…

The variable manifestations of disease in pyruvate kinase deficiency and their management

Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease. The diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests that may not always be informative, including pyr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Al-Samkari, Hanny, van Beers, Eduard J., Kuo, Kevin H.M., Barcellini, Wilma, Bianchi, Paola, Glenthøj, Andreas, del Mar Mañú Pereira, María, van Wijk, Richard, Glader, Bertil, Grace, Rachael F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Fondazione Ferrata Storti 2020
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7556504/ https://www.ncbi.nlm.nih.gov/pubmed/33054048 http://dx.doi.org/10.3324/haematol.2019.240846

Ejemplares similares

P1497: MITAPIVAT IMPROVES IRON OVERLOAD IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY WHO ARE REGULARLY TRANSFUSED
por: van Beers, Eduard, et al.
Publicado: (2023)

Comorbidities and complications in adults with pyruvate kinase deficiency
por: Boscoe, Audra N., et al.
Publicado: (2021)

Mitapivat, a novel pyruvate kinase activator, for the treatment of hereditary hemolytic anemias
por: Al-Samkari, Hanny, et al.
Publicado: (2021)

P1479: COMORBIDITIES AND COMPLICATIONS IN ADULTS WITH PYRUVATE KINASE DEFICIENCY ACCORDING TO HEMOGLOBIN STRATA – A DESCRIPTIVE ANALYSIS FROM THE PEAK REGISTRY
por: Pospíŝilová, Dagmar, et al.
Publicado: (2023)

P1477: MITAPIVAT EFFICACY IN ADULTS WITH PYRUVATE KINASE DEFICIENCY AND BASELINE HEMOGLOBIN LEVELS >10 G/DL
por: Grace, Rachael F., et al.
Publicado: (2023)

P1473: CLINICALLY RELEVANT HEMOGLOBIN RESPONSE IN ADULTS WITH PYRUVATE KINASE DEFICIENCY TREATED WITH MITAPIVAT – A SUB-ANALYSIS OF THE ACTIVATE TRIAL
por: Al-Samkari, Hanny, et al.
Publicado: (2023)

The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design
por: Grace, Rachael F, et al.
Publicado: (2023)

P1735: IMPROVEMENTS IN PATIENT-REPORTED OUTCOMES IN MITAPIVAT-TREATED PATIENTS WITH PYRUVATE KINASE DEFICIENCY: A DESCRIPTIVE ANALYSIS FROM THE PHASE 3 ACTIVATE TRIAL
por: Kuo, K. H., et al.
Publicado: (2022)

P1565: MITAPIVAT IMPROVES INEFFECTIVE ERYTHROPOIESIS AND REDUCES IRON OVERLOAD IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY
por: van Beers, E. J., et al.
Publicado: (2022)

Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency
por: Al-Samkari, Hanny, et al.
Publicado: (2022)

Erythrocyte pyruvate kinase deficiency: 2015 status report
por: Grace, Rachael F., et al.
Publicado: (2015)

P1542: COMORBIDITIES AND COMPLICATIONS ACROSS GENOTYPES IN ADULT PATIENTS WITH PYRUVATE KINASE DEFICIENCY: ANALYSIS FROM THE PEAK REGISTRY
por: Glenthøj, A., et al.
Publicado: (2022)

Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD
por: Schwartz, Jonathan D., et al.
Publicado: (2022)

A Proposed Concept for Defective Mitophagy Leading to Late Stage Ineffective Erythropoiesis in Pyruvate Kinase Deficiency
por: van Vuren, Annelies Johanna, et al.
Publicado: (2021)

P1548: LONG-TERM TREATMENT WITH ORAL MITAPIVAT IS ASSOCIATED WITH NORMALIZATION OF HEMOGLOBIN LEVELS IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY
por: Barcellini, W., et al.
Publicado: (2022)

P1544: BONE MINERAL DENSITY REMAINS STABLE IN PYRUVATE KINASE DEFICIENCY PATIENTS RECEIVING LONG-TERM TREATMENT WITH MITAPIVAT
por: Al-Samkari, H., et al.
Publicado: (2022)

P1562: CHARACTERIZING IRON OVERLOAD BY AGE IN PATIENTS DIAGNOSED WITH PYRUVATE KINASE DEFICIENCY – A DESCRIPTIVE ANALYSIS FROM THE PEAK REGISTRY
por: Bianchi, P., et al.
Publicado: (2022)

Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families
por: Fermo, Elisa, et al.
Publicado: (2017)

Pyruvate Kinase Deficiency: Current Challenges and Future Prospects
por: Fattizzo, Bruno, et al.
Publicado: (2022)

P1545: DURABILITY OF HEMOGLOBIN RESPONSE AND REDUCTION IN TRANSFUSION BURDEN IS MAINTAINED OVER TIME IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY TREATED WITH MITAPIVAT IN A LONG-TERM EXTENSION STUDY
por: Grace, R. F., et al.
Publicado: (2022)

Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency
por: van Dooijeweert, Birgit, et al.
Publicado: (2020)

Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency
por: Zaninoni, Anna, et al.
Publicado: (2023)

The role of romiplostim for pediatric patients with immune thrombocytopenia
por: Al-Samkari, Hanny, et al.
Publicado: (2020)

PB2345: ADAPTING PATIENT EDUCATIONAL APPROACHES IN PYRUVATE KINASE DEFICIENCY: EUROPE AND NORTH AMERICA FINDINGS FROM THE AAC PATIENT AND CAREGIVER SURVEY
por: Barcellini, W., et al.
Publicado: (2022)

P1424: ONE-YEAR FOLLOW-UP OF A PHASE 2 STUDY OF MITAPIVAT, AN ORAL PYRUVATE KINASE ACTIVATOR, FOR THE TREATMENT OF SICKLE CELL DISEASE
por: van Dijk, Myrthe, et al.
Publicado: (2023)

PB2625: VAYHIT2: A RANDOMIZED, DOUBLE-BLIND, PHASE III TRIAL OF IANALUMAB VS PLACEBO IN ADDITION TO ELTROMBOPAG IN PATIENTS WITH PRIMARY IMMUNE THROMBOCYTOPENIA (ITP) WHO FAILED FIRST-LINE STEROID TREATMENT
por: Zaja, Francesco, et al.
Publicado: (2023)

PB2636: VAYHIT1: A MULTICENTER, RANDOMIZED, DOUBLE-BLIND, PHASE III TRIAL OF IANALUMAB VERSUS PLACEBO IN ADDITION TO FIRST-LINE CORTICOSTEROIDS IN PATIENTS WITH PRIMARY IMMUNE THROMBOCYTOPENIA (ITP)
por: Cooper, Nichola, et al.
Publicado: (2023)

Response to rituximab in children and adults with immune thrombocytopenia (ITP)
por: Harris, Emily M., et al.
Publicado: (2021)

PB2552: VAYHIA: A RANDOMIZED, DOUBLE-BLIND, PHASE III TRIAL TO ASSESS THE EFFICACY AND SAFETY OF IANALUMAB VS PLACEBO IN PATIENTS WITH WARM AUTOIMMUNE HEMOLYTIC ANEMIA THAT FAILED ≥1 LINE OF TREATMENT
por: Barcellini, Wilma, et al.
Publicado: (2023)

Pyruvate kinase deficiency in a newborn with extramedullary hematopoiesis in the skin
por: Voit, Richard A., et al.
Publicado: (2020)

COVID-19 vaccination and immune thrombocytopenia: Cause for vigilance, but not panic
por: Al-Samkari, Hanny
Publicado: (2023)

Development of the pyruvate kinase deficiency diary and pyruvate kinase deficiency impact assessment: Disease‐specific assessments
por: Salek, Sam, et al.
Publicado: (2020)

AG-348 (mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and adenosine triphosphate levels over a broad range of PKLR genotypes
por: Rab, Minke A.E., et al.
Publicado: (2020)

P1492: PHARMACODYNAMIC EFFECTS OF AG-946, A HIGHLY POTENT NOVEL ACTIVATOR OF PYRUVATE KINASE, IN EX VIVO TREATMENT OF RED BLOOD CELLS FROM SICKLE CELL DISEASE PATIENTS
por: Rab, M., et al.
Publicado: (2022)

PI-05: PHARMACODYNAMIC EFFECTS OF AG-946, A HIGHLY POTENT NOVEL ACTIVATOR OF PYRUVATE KINASE, IN EX VIVO TREATMENT OF RED BLOOD CELLS FROM SICKLE CELL DISEASE PATIENTS
por: M., RAB, et al.
Publicado: (2022)

PB1990: GLYCOLYTIC ACTIVITY AND EFFECT OF EX-VIVO TREATMENT WITH THE PYRUVATE KINASE (PK) ACTIVATOR AG-946 IN RED BLOOD CELLS FROM LOW-RISK MYELODYSPLASTIC SYNDROMES PATIENTS: A PROOF-OF-CONCEPT STUDY
por: Fattizzo, Bruno, et al.
Publicado: (2023)

Molecular heterogeneity of pyruvate kinase deficiency
por: Bianchi, Paola, et al.
Publicado: (2020)

P1543: MITAPIVAT DECREASES THE NEED FOR TRANSFUSIONS SECONDARY TO POORLY TOLERATED ANEMIA AND ACUTE EVENTS COMPARED TO PLACEBO IN PATIENTS WITH PYRUVATE KINASE DEFICIENCY WHO ARE NOT REGULARLY TRANSFUSED
por: Al-Samkari, H., et al.
Publicado: (2022)

Psychometric validation of the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Deficiency Impact Assessment in adults in the phase 3 ACTIVATE trial
por: Andrae, David A., et al.
Publicado: (2023)

Management of Adult Patients with Immune Thrombocytopenia (ITP): A Review on Current Guidance and Experience from Clinical Practice
por: Song, Fei, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_c8rdl0sjhu9fam9jne4juj13sm