Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency

Pediatr Blood Cancer. 2010 May;54(5):758-60. doi: 10.1002/pbc.22390.

Abstract

We report a Caucasian neonate with chronic non-spherocytic hemolytic anemia due to a class I G6PD deficiency. A novel mutation missense mutation in exon eight of the G6PD gene was detected (c.827C>T p.Pro276Leu). Bilirubin peaked on day 5 at 24 mg/dl with a conjugated bilirubin of 17 mg/dl. Jaundice resolved within 4 weeks. A detailed work-up failed to reveal other specific factors contributing to cholestasis. Severe hemolytic disease of the newborn may cause cholestasis even in the absence of associated primary hepato-biliary disease.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic, Congenital Nonspherocytic / complications*
  • Anemia, Hemolytic, Congenital Nonspherocytic / genetics
  • Anemia, Hemolytic, Congenital Nonspherocytic / pathology
  • Cholestasis / etiology*
  • Cholestasis / pathology
  • Glucosephosphate Dehydrogenase Deficiency / complications*
  • Glucosephosphate Dehydrogenase Deficiency / genetics
  • Glucosephosphate Dehydrogenase Deficiency / pathology
  • Humans
  • Infant, Newborn
  • Infant, Premature*
  • Jaundice, Neonatal / etiology*
  • Jaundice, Neonatal / pathology
  • Kernicterus / complications*
  • Kernicterus / genetics
  • Kernicterus / pathology
  • Male
  • Mutation, Missense*