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Book: Pediatric hematology

Grace, Rachael

(Hematology/oncology clinics of North America ; volume 33, number 3 (June 2019))

2019

Author's details	editors Rachael F. Grace, Russell E. Ware
Series title	Hematology/oncology clinics of North America ; volume 33, number 3 (June 2019) Hematology, oncology clinics of North America
Collection	Hematology, oncology clinics of North America
Language	English
Size	xiv Seiten, Seite 340-551, Illustrationen
Publisher	Elsevier
Publishing place	Philadelphia, Pennsylvania
Publishing country	United States
Document type	Book
HBZ-ID	HT020110559
ISBN	978-0-323-67333-4 ; 0-323-67333-3
Database	Catalogue ZB MED Medicine, Health

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Article ; Online: Pyruvate kinase activators for treatment of pyruvate kinase deficiency.

Grace, Rachael F

Hematology. American Society of Hematology. Education Program

2023 Volume 2023, Issue 1, Page(s) 97–106

Abstract: Pyruvate kinase (PK) deficiency is a congenital hemolytic anemia with wide-ranging clinical symptoms and complications associated with significant morbidity and reduced health-related quality of life in both children and adults. The management of ... ...

Abstract	Pyruvate kinase (PK) deficiency is a congenital hemolytic anemia with wide-ranging clinical symptoms and complications associated with significant morbidity and reduced health-related quality of life in both children and adults. The management of patients with PK deficiency has been historically challenging due to difficulties in the diagnostic evaluation, heterogeneity of clinical manifestations, and treatment options limited to supportive care with transfusions and splenectomy. An oral allosteric PK activator, mitapivat, is now a clinically available disease-modifying treatment for adults with PK deficiency. Phase 2 and 3 clinical trials of mitapivat have demonstrated sustained improvements in hemolytic anemia, hematopoiesis, and quality of life in many adults with PK deficiency and a generally reassuring safety profile with continued dosing. Additional long-term benefits include rapid and ongoing reduction in iron overload and potential stabilization of bone health. Clinical trials of treatment with mitapivat in children with PK deficiency are ongoing. In addition to disease-modifying treatment with PK activators, gene therapy is a potentially curative treatment currently under evaluation in clinical trials. With the availability of disease-targeted therapies, accurately diagnosing PK deficiency in patients with chronic hemolytic anemia is critical. PK activation and gene therapy have the potential to change the natural history of PK deficiency by improving clinical manifestations and patient quality of life and decreasing the risk of long-term complications.
MeSH term(s)	Adult ; Child ; Humans ; Pyruvate Kinase/genetics ; Quality of Life ; Anemia, Hemolytic, Congenital Nonspherocytic/genetics ; Anemia, Hemolytic, Congenital Nonspherocytic/therapy ; Anemia, Hemolytic, Congenital Nonspherocytic/diagnosis ; Anemia, Hemolytic
Chemical Substances	Pyruvate Kinase (EC 2.7.1.40)
Language	English
Publishing date	2023-12-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	2084287-9
ISSN	1520-4383 ; 1520-4391
ISSN (online)	1520-4383
ISSN	1520-4391
DOI	10.1182/hematology.2023000466
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Article ; Online: An update on pediatric ITP: differentiating primary ITP, IPD, and PID.

Grace, Rachael F / Lambert, Michele P

Blood

2021 Volume 140, Issue 6, Page(s) 542–555

Abstract: Immune thrombocytopenia (ITP) is the most common acquired thrombocytopenia in children and is caused by immune-mediated decreased platelet production and increased platelet destruction. In the absence of a diagnostic test, ITP must be differentiated from ...

Abstract	Immune thrombocytopenia (ITP) is the most common acquired thrombocytopenia in children and is caused by immune-mediated decreased platelet production and increased platelet destruction. In the absence of a diagnostic test, ITP must be differentiated from other thrombocytopenic disorders, including inherited platelet disorders. In addition, a diagnosis of secondary ITP due to a primary immune deficiency with immune dysregulation may not be apparent at diagnosis but can alter management and should be considered in an expanding number of clinical scenarios. The diagnostic evaluation of children with thrombocytopenia will vary based on the clinical history and laboratory features. Access to genotyping has broadened the ability to specify the etiology of thrombocytopenia, whereas increasing access to immunophenotyping, functional immunologic and platelet assays, and biochemical markers has allowed for more in-depth evaluation of patients. With this greater availability of testing, diagnostic algorithms in patients with thrombocytopenia have become complex. In this article, we highlight the diagnostic evaluation of thrombocytopenia in children with a focus on ITP, including consideration of underlying genetic and immune disorders, and use hypothetical patient cases to describe disease manifestations and strategies for treatment of pediatric ITP.
MeSH term(s)	Biomarkers ; Blood Platelets ; Child ; Humans ; Leukopenia/complications ; Neuroblastoma ; Purpura, Thrombocytopenic, Idiopathic/diagnosis ; Purpura, Thrombocytopenic, Idiopathic/etiology ; Purpura, Thrombocytopenic, Idiopathic/therapy ; Thrombocytopenia/complications
Chemical Substances	Biomarkers
Language	English
Publishing date	2021-09-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2020006480
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Article ; Online: Updates and advances in pyruvate kinase deficiency.

Luke, Neeti / Hillier, Kirsty / Al-Samkari, Hanny / Grace, Rachael F

Trends in molecular medicine

2023 Volume 29, Issue 5, Page(s) 406–418

Abstract: Mutations in the PKLR gene lead to pyruvate kinase (PK) deficiency, causing chronic hemolytic anemia secondary to reduced red cell energy, which is crucial for maintenance of the red cell membrane and function. Heterogeneous clinical manifestations can ... ...

Abstract	Mutations in the PKLR gene lead to pyruvate kinase (PK) deficiency, causing chronic hemolytic anemia secondary to reduced red cell energy, which is crucial for maintenance of the red cell membrane and function. Heterogeneous clinical manifestations can result in significant morbidity and reduced health-related quality of life. Treatment options have historically been limited to supportive care, including red cell transfusions and splenectomy. Current disease-modifying treatment considerations include an oral allosteric PK activator, mitapivat, which was recently approved for adults with PK deficiency, and gene therapy, which is currently undergoing clinical trials. Studies evaluating the role of PK activators in other congenital hemolytic anemias are ongoing. The long-term effect of treatment with disease-modifying therapy in PK deficiency will require continued evaluation.
MeSH term(s)	Adult ; Humans ; Pyruvate Kinase/genetics ; Pyruvate Kinase/metabolism ; Quality of Life ; Anemia, Hemolytic, Congenital Nonspherocytic/genetics ; Anemia, Hemolytic, Congenital Nonspherocytic/therapy ; Pyruvate Metabolism, Inborn Errors/genetics ; Pyruvate Metabolism, Inborn Errors/therapy
Chemical Substances	Pyruvate Kinase (EC 2.7.1.40)
Language	English
Publishing date	2023-03-17
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2036490-8
ISSN	1471-499X ; 1471-4914
ISSN (online)	1471-499X
ISSN	1471-4914
DOI	10.1016/j.molmed.2023.02.005
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Article ; Online: Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.

Johnson, Shaniqua / Grace, Rachael F / Despotovic, Jenny M

Pediatric blood & cancer

2022 Volume 69, Issue 8, Page(s) e29696

Abstract: Pyruvate kinase (PK) deficiency is a rare, congenital red blood cell disorder caused by a single gene defect. The spectrum of genotypes, variants, and phenotypes are broad, commonly requiring a multimodal approach including enzyme and genetic testing for ...

Abstract	Pyruvate kinase (PK) deficiency is a rare, congenital red blood cell disorder caused by a single gene defect. The spectrum of genotypes, variants, and phenotypes are broad, commonly requiring a multimodal approach including enzyme and genetic testing for accurate and reliable diagnosis. Similarly, management of primary and secondary sequelae of PK deficiency varies, mainly including supportive care with transfusions and surgical interventions to improve symptoms and quality of life. Given the risk of acute and long-term complications of PK deficiency and its treatment, regular monitoring and management of iron burden and organ dysfunction is critical. Therefore, all children and adolescents with PK deficiency should receive regular hematology care with visits at least every 6 months regardless of transfusion status. We continue to learn more about the spectrum of symptoms and complications of PK deficiency and best practice for monitoring and management through registry efforts (NCT03481738). The treatment of PK deficiency has made strides over the last few years with newer disease-modifying therapies being developed and studied, with the potential to change the course of disease in childhood and beyond.
MeSH term(s)	Adolescent ; Anemia, Hemolytic, Congenital Nonspherocytic/diagnosis ; Anemia, Hemolytic, Congenital Nonspherocytic/genetics ; Anemia, Hemolytic, Congenital Nonspherocytic/therapy ; Erythrocytes ; Humans ; Pyruvate Kinase/deficiency ; Pyruvate Kinase/genetics ; Pyruvate Metabolism, Inborn Errors/diagnosis ; Pyruvate Metabolism, Inborn Errors/genetics ; Pyruvate Metabolism, Inborn Errors/therapy ; Quality of Life
Chemical Substances	Pyruvate Kinase (EC 2.7.1.40)
Language	English
Publishing date	2022-04-22
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2131448-2
ISSN	1545-5017 ; 1545-5009
ISSN (online)	1545-5017
ISSN	1545-5009
DOI	10.1002/pbc.29696
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Article ; Online: Management of pyruvate kinase deficiency in children and adults.

Grace, Rachael F / Barcellini, Wilma

Blood

2020 Volume 136, Issue 11, Page(s) 1241–1249

Abstract: Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic pathway that causes congenital nonspherocytic hemolytic anemia. The diagnosis and management of patients with PKD can be challenging due to difficulties in the ... ...

Abstract	Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic pathway that causes congenital nonspherocytic hemolytic anemia. The diagnosis and management of patients with PKD can be challenging due to difficulties in the diagnostic evaluation and the heterogeneity of clinical manifestations, ranging from fetal hydrops and symptomatic anemia requiring lifelong transfusions to fully compensated hemolysis. Current treatment approaches are supportive and include transfusions, splenectomy, and chelation. Complications, including iron overload, bilirubin gallstones, extramedullary hematopoiesis, pulmonary hypertension, and thrombosis, are related to the chronic hemolytic anemia and its current management and can occur at any age. Disease-modifying therapies in clinical development may decrease symptoms and findings associated with chronic hemolysis and avoid the complications associated with current treatment approaches. As these disease-directed therapies are approved for clinical use, clinicians will need to define the types of symptoms and findings that determine the optimal patients and timing for initiating these therapies. In this article, we highlight disease manifestations, monitoring approaches, strategies for managing complications, and novel therapies in development.
MeSH term(s)	Adolescent ; Adult ; Anemia, Hemolytic, Congenital Nonspherocytic/diagnosis ; Anemia, Hemolytic, Congenital Nonspherocytic/epidemiology ; Anemia, Hemolytic, Congenital Nonspherocytic/surgery ; Anemia, Hemolytic, Congenital Nonspherocytic/therapy ; Blood Transfusion ; Chelation Therapy ; Child ; Child, Preschool ; Cholelithiasis/etiology ; Cholelithiasis/surgery ; Clinical Trials as Topic ; Disease Management ; Female ; Fetal Diseases/genetics ; Genetic Therapy ; Genotype ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant ; Infant, Newborn ; Iron Chelating Agents/therapeutic use ; Iron Overload/drug therapy ; Iron Overload/etiology ; Jaundice, Neonatal/etiology ; Jaundice, Neonatal/therapy ; Male ; Mutation ; Pregnancy ; Prevalence ; Pyruvate Kinase/deficiency ; Pyruvate Kinase/genetics ; Pyruvate Metabolism, Inborn Errors/diagnosis ; Pyruvate Metabolism, Inborn Errors/epidemiology ; Pyruvate Metabolism, Inborn Errors/surgery ; Pyruvate Metabolism, Inborn Errors/therapy ; Splenectomy ; Splenomegaly/etiology ; Splenomegaly/surgery
Chemical Substances	Iron Chelating Agents ; PKLR protein, human (EC 2.7.1.40) ; Pyruvate Kinase (EC 2.7.1.40)
Language	English
Publishing date	2020-07-23
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2019000945
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Article ; Online: Pyruvate kinase deficiency in a newborn with extramedullary hematopoiesis in the skin.

Voit, Richard A / Grace, Rachael F

Blood

2020 Volume 136, Issue 6, Page(s) 770

MeSH term(s)	Anemia, Hemolytic, Congenital Nonspherocytic/diagnosis ; Anemia, Hemolytic, Congenital Nonspherocytic/genetics ; Anemia, Hemolytic, Congenital Nonspherocytic/physiopathology ; Erythrocytes, Abnormal/ultrastructure ; Exanthema/etiology ; Exanthema/pathology ; Female ; Hematopoiesis, Extramedullary ; Heterozygote ; Humans ; Hypoglycemia/congenital ; Hypoglycemia/etiology ; Hypoglycemia/genetics ; Hypoxia/etiology ; Infant, Newborn ; Pyruvate Kinase/deficiency ; Pyruvate Kinase/genetics ; Pyruvate Metabolism, Inborn Errors/diagnosis ; Pyruvate Metabolism, Inborn Errors/genetics ; Pyruvate Metabolism, Inborn Errors/physiopathology ; Skin/physiopathology
Chemical Substances	PKLR protein, human (EC 2.7.1.40) ; Pyruvate Kinase (EC 2.7.1.40)
Language	English
Publishing date	2020-09-15
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2020006395
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Article ; Online: Long-term risk of developing immune thrombocytopenia and hematologic neoplasia in adults with mild thrombocytopenia.

Ayad, Nardeen / Grace, Rachael F / Kuter, David J / Al-Samkari, Hanny

Blood

2022 Volume 140, Issue 26, Page(s) 2849–2852

MeSH term(s)	Adult ; Humans ; Female ; Pregnancy ; Purpura, Thrombocytopenic, Idiopathic/complications ; Thrombocytopenia/complications ; Hematologic Neoplasms/complications ; Pregnancy Complications, Hematologic
Language	English
Publishing date	2022-07-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2022016757
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Article ; Online: 2022 Review of the 2019 American Society of Hematology Guidelines on Immune Thrombocytopenia.

Neunert, Cindy E / Arnold, Donald M / Grace, Rachael F / Kühne, Thomas / McCrae, Keith R / Terrell, Deirdra R

Blood advances

2024

Abstract: The 2019 ASH guidelines for immune thrombocytopenia (ITP) included recommendations on management of adults (recommendations 1-9) and children (recommendations 10-21) with primary ITP (1). We describe here results of a review of the 2019 guidelines by a ... ...

Abstract	The 2019 ASH guidelines for immune thrombocytopenia (ITP) included recommendations on management of adults (recommendations 1-9) and children (recommendations 10-21) with primary ITP (1). We describe here results of a review of the 2019 guidelines by a working group of experts requested by ASH to inform decision-making about the need for and timing of a guideline revision. An updated Medline and Embase search applied the same search terms as in the 2019 ASH guidelines, limited to systematic reviews and clinical trials, from May 2017 to July 2022. There were 193 studies identified, 102 underwent abstract review and 54 full review. Each study was assessed based on relevance to the previous recommendation with regards to the population, prioritized outcomes, new outcomes, and study design. Reviewers assessed if the data would change the strength or the directionality of the existing recommendation or merit development of a new recommendation. Based on this review, the ASH Committee on Quality endorsed a focused update on second-line management for adults with ITP. In addition, there will be continued annual monitoring and reviewing of the 2019 ASH guidelines on ITP in full to evaluate when there is sufficient new evidence to warrant additional revisions.
Language	English
Publishing date	2024-04-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	2915908-8
ISSN	2473-9537 ; 2473-9529
ISSN (online)	2473-9537
ISSN	2473-9529
DOI	10.1182/bloodadvances.2023012541
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Article ; Online: Pediatric Hematology.

Grace, Rachael F / Ware, Russell E

Hematology/oncology clinics of North America

2019 Volume 33, Issue 3, Page(s) xiii–xiv

MeSH term(s)	Child ; Hematologic Diseases/diagnosis ; Hematologic Diseases/therapy ; Hematology/methods ; Hematology/trends ; Humans
Language	English
Publishing date	2019-03-29
Publishing country	United States
Document type	Editorial ; Introductory Journal Article
ZDB-ID	93115-9
ISSN	1558-1977 ; 0889-8588
ISSN (online)	1558-1977
ISSN	0889-8588
DOI	10.1016/j.hoc.2019.02.001
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