[Expert consensus on the diagnosis and treatment of pyruvate kinase deficiency].

Abstract

Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder caused by mutations in the PKLR gene, encoding erythrocyte pyruvate kinase, which affects erythrocyte energy production, and then in turn affects erythrocyte function and longevity. PKD is characterized by chronic hemolytic anemia, and other features include chronic hemolytic complications, such as iron overload, decreased bone mineral density, and cardiopulmonary complications. The treatment of PKD requires individualized approach based on the patient's condition, including red blood cell transfusions, pyruvate kinase activators, and treatment for complications. This consensus focuses on the pathogenesis, clinical characteristics, diagnosis and treatment of PKD, and aims to provide better medical service for clinicians, such as diagnosis, treatment, monitoring, and prevention of complications for PKD patients.