Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn

• Published in: American journal of hematology Vol. 82; no. 11; pp. 1025 - 1028
• Main Authors: Raphaël, Martine F., Van Wijk, Richard, Schweizer, Joachim J., Schouten‐van Meeteren, Netteke A.Y., Kindermann, Angelika, van Solinge, Wouter W., Smiers, Frans J.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.11.2007; Wiley-Liss
• Subjects: Anemia, Hemolytic - complications; Anemia, Hemolytic - genetics; Anemias. Hemoglobinopathies; Biological and medical sciences; Diseases of red blood cells; Fatal Outcome; Female; Hematologic and hematopoietic diseases; Humans; Infant, Newborn; Jaundice, Neonatal - etiology; Liver - pathology; Liver Failure - etiology; Medical sciences; Pyruvate Kinase - deficiency; Pyruvate Kinase - genetics; Human; Hemolytic anemia; Newborn; Hematology; Digestive system; Dysfunction; Pyruvate kinase deficiency; Liver; Metabolic diseases; Hemopathy; Enzymopathy; Genetic disease
• ISSN: 0361-8609; 1096-8652
• DOI: 10.1002/ajh.20942

Significant hyperbilirubinaemia, anemia, and splenomegaly are common features in patients with severe haemolysis due to pyruvate kinase (PK) deficiency. Until now, severe neonatal PK deficiency has not been associated with fatal liver disease at this age. We present two neonatal cases of severe PK deficiency complicated with progressive fatal liver disease. The patients presented with severe haemolysis, progressive cholestasis, and hepatosplenomegaly, and both patients ultimately developed liver failure at a very young age. Despite extensive investigations, no specific explanation for liver disease and failure was found. We suggest that the PK deficiency itself directly led to liver dysfunction. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.