Diagnosis, monitoring, and management of pyruvate kinase deficiency in children

Johnson, Shaniqua; Grace, Rachael F.; Despotovic, Jenny M.

doi:10.1002/pbc.29696

Cited by 3 publications

(3 citation statements)

References 49 publications

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“… 48 101 Metapivat (AK-348), a recently developed PK activator, has recently gained FDA approval for the treatment of adult PKD. 102 103 In phase 2 trials, it effectively improved Hb levels and reduced transfusion needs. However, it showed limited efficacy in patients with two non-missense mutations, leading to their exclusion from the trials.…”

Section: Clinical Implications Of Molecular Genetic Test Results In H...mentioning

confidence: 99%

Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea

Chueh,

Shim,

Jung

et al. 2024

J Korean Med Sci

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Hereditary hemolytic anemia (HHA) is considered a group of rare hematological diseases in Korea, primarily because of its unique ethnic characteristics and diagnostic challenges. Recently, the prevalence of HHA has increased in Korea, reflecting the increasing number of international marriages and increased awareness of the disease. In particular, the diagnosis of red blood cell (RBC) enzymopathy experienced a resurgence, given the advances in diagnostic techniques. In 2007, the RBC Disorder Working Party of the Korean Society of Hematology developed the Korean Standard Operating Procedure for the Diagnosis of Hereditary Hemolytic Anemia, which has been continuously updated since then. The latest Korean clinical practice guidelines for diagnosing HHA recommends performing next-generation sequencing as a preliminary step before analyzing RBC membrane proteins and enzymes. Recent breakthroughs in molecular genetic testing methods, particularly next-generation sequencing, are proving critical in identifying and providing insight into cases of HHA with previously unknown diagnoses. These innovative molecular genetic testing methods have now become important tools for the management and care planning of patients with HHA. This review aims to provide a comprehensive overview of recent advances in molecular genetic testing for the diagnosis of HHA, with particular emphasis on the Korean context.

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Section: Clinical Implications Of Molecular Genetic Test Results In H...mentioning

confidence: 99%

Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea

Chueh,

Shim,

Jung

et al. 2024

J Korean Med Sci

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“…These defective red cells are rigid and fragile both metabolically and physically. Reticulocytes can produce ATP via oxidative pathways so they are less fragile in PK deficiency (40).…”

Section: Pyruvate Kinase Deficiencymentioning

confidence: 99%

“…In the diagnostic approach, other hemolytic anemias should be ruled out and the clinicians should have a high index of suspicion. Next-generation sequencing targeted panels and enzyme activity measurements can be used together to get an accurate diagnosis (40)(41)(42).…”

Section: Pyruvate Kinase Deficiencymentioning

confidence: 99%

Inherited hemolytic anemias in children

Akyol¹,

Tahiroğlu²,

Ünal³

2022

Kastamonu Med J

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Inherited hemolytic anemia is one of the most commonly seen anemias encountred in the pediatric age, especially in Türkiye, where consanguineous marriages are common. Inherited hemolytic anemias mainly includes hemoglobinopathies, erythrocyte membrane defects and enzyme defects. Hemolytic anemias have a wide etiology and clinical spectrum with acquired and hereditary causes in childhood. Always a careful self and family history review and synthesis of physical examination and laboratory findings are vital for differential diagnosis. Therefore, physicians should be competent about prevention methods and early diagnosis markers.

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Anemia and Associated Risk Factors in Pediatric Patients

Martinez-Torres,

Torres,

Davis

et al. 2023

PHMT

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Anemia is the most common hematologic abnormality identified in children and represents a major global health problem. A delay in diagnosis and treatment might place patients with anemia at risk for the development of rare but serious complications, including chronic and irreversible cognitive impairment. Identified risk factors contributing to the development of anemia in children include the presence of nutritional deficiencies, environmental factors, chronic comorbidities, and congenital disorders of hemoglobin or red blood cells. Pediatricians, especially those in the primary care setting, serve a particularly critical role in the identification and care of those children affected by anemia. Prompt recognition of these risk factors is crucial for developing appropriate and timely therapeutic interventions and prevention strategies.

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Diagnosis, monitoring, and management of pyruvate kinase deficiency in children

Cited by 3 publications

References 49 publications

Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea

Current Status of Molecular Diagnosis of Hereditary Hemolytic Anemia in Korea

Inherited hemolytic anemias in children

Anemia and Associated Risk Factors in Pediatric Patients

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