Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
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.
Kordes
Uwe
U
Department of Pediatric Hematology and Oncology, University Medical Center Eppendorf, Hamburg, Germany. kordes@uke.de
Richter
Andrea
A
Santer
Rene
R
Schäfer
Hansjörg
H
Singer
Dominique
D
Sonntag
Josef
J
Steuerwald
Ulrike
U
Schneppenheim
Reinhard
R
Janka
Gritta
G
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002779:Cholestasis / Q000209:etiology* / Q000473:pathology; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007567:Jaundice, Neonatal / Q000209:etiology* / Q000473:pathology; D007647:Kernicterus / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008297:Male; D020125:Mutation, Missense