Fast Facts for Patients: Pyruvate Kinase Deficiency - Couverture souple

Grace, Rachael

Couverture souple

ISBN 10 : 3318072591 ISBN 13 : 9783318072594

Editeur : S Karger AG, 2025

Synopsis

Pyruvate kinase deficiency (PK deficiency) is a rare genetic disease that causes red blood cells to break apart easily (hemolysis). Some patients have no or few symptoms; others have very low numbers of red blood cells (hemolytic anemia) and need treatment with regular blood transfusions. Hemolysis occurs in everyone with PK deficiency. It increases the risk of complications that need monitoring, such as gallstones, iron overload, and low bone density. Treatment with mitapivat, which is taken as a tablet, activates pyruvate kinase and reduces anemia and hemolysis in about half of all adults with PK deficiency. Research into other new treatments, including gene therapy, is promising. Common supportive treatments include blood transfusions, removal of the spleen (splenectomy), and medications to remove excess iron from the blood (chelation therapy).

Détails de l'édition

• Éditeur: S Karger AG
• Date d'édition: 2025
• Langue: anglais
• ISBN 10: 3318072591
• ISBN 13: 9783318072594
• Reliure: Broché
• Numéro d'édition: 2
• Nombre de pages: 56
• Coordonnées du fabricant: non disponible
• Personne responsable: non disponible