Pyruvate kinase deficiency associated with severe liver dysfunction in the newborn.
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.
Raphaël
Martine F
MF
Department of Paediatric Haematology and Oncology, Wilhelmina Children's Hospital, University Medical Center of Utrecht, The Netherlands. m.f.raphael@umcutrecht.nl
Van Wijk
Richard
R
Schweizer
Joachim J
JJ
Schouten-van Meeteren
Netteke A Y
NA
Kindermann
Angelika
A
van Solinge
Wouter W
WW
Smiers
Frans J
FJ
D000743:Anemia, Hemolytic / Q000150:complications / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology*; D008099:Liver / Q000473:pathology; D017093:Liver Failure / Q000209:etiology; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics
D011770:Pyruvate Kinase