中国当代儿科杂志2026，Vol.28Issue(5)：593-597,5.DOI:10.7499/j.issn.1008-8830.2509155
PKLR基因变异致丙酮酸激酶缺乏症6例临床分析
Clinical analysis of six patients with pyruvate kinase deficiency caused by PKLR variants
王雯 1赵艳霞 1王玲珍 1姜凡 1杨静 1孙立荣 1徐慧娟1
作者信息
- 1. 青岛大学附属医院儿童血液肿瘤科,山东 青岛 266000
- 折叠
摘要
Abstract
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.关键词
丙酮酸激酶缺乏症/临床特征/PKLR基因变异/脾切除术Key words
Pyruvate kinase deficiency/Clinical feature/PKLR gene variant/Splenectomy引用本文复制引用
王雯,赵艳霞,王玲珍,姜凡,杨静,孙立荣,徐慧娟..PKLR基因变异致丙酮酸激酶缺乏症6例临床分析[J].中国当代儿科杂志,2026,28(5):593-597,5.
