目的 探讨PKLR基因变异导致丙酮酸激酶缺乏症（pyruvate kinase deficiency, PKD）的临床特点、相关治疗及预后。 方法 回顾性分析2014年8月—2025年8月就诊于青岛大学附属医院6例PKD患者的临床资料。 结果 6例患者中，5例儿童患者均为婴儿期起病，1例成人患者为学龄期起病，均表现为皮肤黄染、贫血，通过基因检测确诊为PKD。2例因频繁输血行脾切除术治疗；3例为轻症，无需定期输血，未行脾切除术；1例死亡。 结论 PKD存在慢性溶血表现，临床表现轻重不一，基因检测被推荐用于诊断。目前尚缺乏有效的治愈手段，仍以对症支持治疗为主，脾切除术有助于减轻患者的输血依赖及提高生活质量。

Objective To investigate the clinical features, treatment, and prognosis of pyruvate kinase deficiency (PKD) caused by PKLR gene variants. Methods Clinical data of six patients with PKD who received care at the Affiliated Hospital of Qingdao University from August 2014 to August 2025 were retrospectively analyzed. Results Of the six patients, five were children with onset in infancy, and one was an adult whose disease onset occurred at school age. All presented with jaundice and anemia, and PKD was confirmed by genetic testing. Two patients underwent splenectomy due to frequent transfusion. Three patients were mild, required no regular transfusion, and did not undergo splenectomy. One patient died. Conclusions PKD manifests chronic hemolysis with variable clinical severity. Genetic testing is recommended for diagnosis. Curative therapy remains lacking; management is mainly supportive. Splenectomy may reduce transfusion dependence and improve quality of life.