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NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death

19 Apr 2024

Abstract excerpt

BACKGROUND: Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited. METHODS: New patients with biallelic NR1H4 variants from our center and all patients from literature were retrospectively analyzed. RESULTS: Three new patients were identified to be carrying five new variants. Liver phenotypes of our patients manifests as low-γ-glutamyl transferase...

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PMID: 38641832
DOI: 10.1186/s13023-024-03166-1

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