Diagnosis, monitoring, and management of pyruvate kinase deficiency in children
| Autor: | Jenny M. Despotovic, Rachael F. Grace, Shaniqua Johnson |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
Hemolytic anemia
medicine.medical_specialty Erythrocytes Adolescent business.industry Hepatobiliary disease Pyruvate Kinase Hematology Disease Anemia Hemolytic Congenital Nonspherocytic Pyruvate Metabolism Inborn Errors medicine.disease Gastroenterology Hemolysis Oncology Internal medicine Pediatrics Perinatology and Child Health Quality of Life Medicine Humans Glycolysis business Pyruvate kinase Pyruvate kinase deficiency Cardiopulmonary disease |
| Zdroj: | Pediatric bloodcancerREFERENCES. 69(8) |
| ISSN: | 1545-5017 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text