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Neonatal cholestasis and glucose‐6‐P‐dehydrogenase deficiency |
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| Authors: | Uwe Kordes MD Andrea Richter MD Rene Santer MD Hansjörg Schäfer MD Dominique Singer MD Josef Sonntag MD Ulrike Steuerwald MD Reinhard Schneppenheim MD Gritta Janka MD |
| Institution: | 1. Department of Pediatric Hematology and Oncology, University Medical Center Eppendorf, Hamburg, Germany;2. Department of Pediatric Gastroenterology, University Medical Center Eppendorf, Hamburg, Germany;3. Department of Pediatric Metabolic Disease, University Medical Center Eppendorf, Hamburg, Germany;4. Department of Pathology, University Medical Center Eppendorf, Hamburg, Germany;5. Department of Neonatology and Pediatric Intensive Care Unit, University Medical Center Eppendorf, Hamburg, Germany;6. Kinderklinik, St?dtisches Klinikum Lüneburg, Lüneburg, Germany;7. Screening Laboratory Metabscreen, Hannover, Germany |
| 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. Pediatr Blood Cancer 2010;54:758–760. © 2010 Wiley‐Liss, Inc. |
| Keywords: | cholestasis glucose‐6‐P‐dehydrogenase deficiency inspissated bile syndrome kernicterus neonatal jaundice |