丙酮酸激酶缺乏症诊断与治疗专家共识(2024版)  

Expert consensus on the diagnosis and treatment of pyruvate kinase deficiency

作　　者：中华医学会血液学分会红细胞疾病(贫血)学组 张连生[2] 邵宗鸿[3] 王化泉[4] 李莉娟[5] 董喜凤[4] Red Blood Cell Disease(Anemia)Group,Chinese Society of Hematology,Chinese Medical Association;Zhang Liansheng;Shao Zonghong(不详;Department of Hematology,Lanzhou University Second Hospital,Lanzhou 730030,China;Department of Hematology,Tianjin Medical University General Hospital,Tianjin 300052,China)

机构地区：[1]不详 [2]兰州大学第二医院血液内科,兰州730030 [3]天津医科大学总医院血液内科,天津300052 [4]天津医科大学总医院血液科 [5]兰州大学第二医院血液科

出　　处：《中华医学杂志》2024年第45期4118-4124,共7页National Medical Journal of China

摘　　要：丙酮酸激酶缺乏症(PKD)是一种罕见的常染色体隐性遗传疾病,由PKLR基因突变引起,该基因编码红细胞丙酮酸激酶,丙酮酸激酶突变影响红细胞能量产生,进而影响红细胞功能和寿命。PKD的临床特点主要是慢性溶血性贫血,其他特点还包括慢性溶血相关的并发症,如铁过载、骨密度降低和心、肺等脏器并发症等。PKD的治疗需在个体化掌握病情的基础上,给予患者红细胞输注、丙酮酸激酶激活剂以及针对并发症的治疗等。本共识围绕上述PKD的发病机制、临床特点、诊断和治疗等方面展开介绍,旨在临床医师更好地为PKD患者提供诊断、治疗、监测、并发症预防等医疗服务。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.

关 键 词：贫血 溶血性 先天性 丙酮酸激酶缺乏症 丙酮酸激酶 诊断 治疗 

分 类 号：R596.1[医药卫生—内科学]