Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure.
Journal
Children (Basel, Switzerland)
Journal Volume
12
Journal Issue
11
ISSN
2227-9067
Date Issued
2025-11-14
Author(s)
Hsu, Yung-Han
Jiang, Chuen-Bin
Hou, Jen-Yin
Jim, Wai-Tim
Lin, Shuan-Pei
Chang, Szu-Wen
Tseng, Kai-Ti
Abstract
Pyruvate kinase deficiency (PKD) is the most prevalent enzymatic defect of the glycolytic pathway, causing chronic congenital non-spherocytic hemolytic anemia. Clinical severity ranges from mild anemia to transfusion-dependent diseases. Severe neonatal presentations, including liver failure, have rarely been reported. We report a preterm female neonate with PKD who developed early-onset hemolytic anemia, conjugated hyperbilirubinemia, hepatosplenomegaly, coagulopathy, and progressive transaminitis. Imaging demonstrated hepatomegaly with diffuse parenchymal involvement. Whole-genome sequencing identified compound heterozygous pathogenic mutations in the gene, confirming the diagnosis of PKD. The patient required continuous transfusion support and was discharged following clinical stabilization. Although PKD most often manifests as isolated hemolytic anemia, this case illustrates a rare neonatal phenotype with concurrent liver dysfunction. We investigated the potential underlying mechanism. Recognition of hepatic involvement in PKD is essential because liver failure is associated with considerable morbidity and mortality, and it may necessitate interventions such as liver transplantation. This case highlights the importance of considering PKD in neonates presenting with hemolysis and liver failure. Early genetic confirmation enables timely management, including transfusion support, iron overload surveillance, and anticipatory guidance for potential hepatic complications.
Subjects
PKLR mutation
conjugated hyperbilirubinemia
genetic diagnosis
hemolytic anemia
hepatic involvement
iron overload
neonatal liver failure
pyruvate kinase deficiency
Type
journal article