Clinical Spectrum of Pyruvate Kinase Deficiency

Investigators at multiple international institutions conducted a longitudinal cohort study to characterize the clinical manifestations, complications, and treatments of patients with pyruvate kinase (PK) deficiency. Patients were eligible if they had biochemically or molecularly diagnosed PK deficiency. At the time of enrollment, data regarding participants’ PK genetic mutation (categorized as missense/missense [MM], missense/non-missense, and non-missense/non-missense [NN]), demographics, medical history (eg perinatal complications, transfusion history, history and timing of splenectomy), and laboratory studies were obtained retrospectively from medical records. The data were summarized using descriptive statistics. The investigators also used several tests of association to identify predictors of no response to splenectomy (defined as a hemoglobin <8 g/dL post-splenectomy).

Of 278 patients enrolled, 254 were included …