Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).
case_report · Level V
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Abstract
This report describes the phenotype of a novel de novo heterozygous frameshift mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta or TCF2) manifest as a neonatal paucity of intrahepatic bile ducts. HNF-1beta mutations should be considered in neonates with cholestatic jaundice associated with renal malformation or diabetes mellitus.
Medical subject headings
- Cholestasis
- Hepatocyte Nuclear Factor 1-beta
- Jaundice, Neonatal
- Mutation