[Clinical analysis of six patients with pyruvate kinase deficiency caused by PKLR variants].

OBJECTIVES

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.