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Article

A novel homozygous NR1H4 mutation in idiopathic elevated transaminases.

Archivos argentinos de pediatria - 1 Feb 2026

Kaya Reyhan, Gümüş Meltem, Ergani Anna C, Emiroğlu Halil H, Marzioğlu Özdemir Ebru

Abstract excerpt

We describe a patient with a homozygous loss-of-function mutation in NR1H4, presenting with idiopathic mild elevation of transaminases. His presentation differs from the limited previously reported cases of progressive familial intrahepatic cholestasis type 5 (PFIC5). Case report: A 7-year-old boy was admitted to our outpatient clinic due to persistently elevated transaminases since 12 months of age. While PFIC5...

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Child
Cholestasis, Intrahepatic
Constitutive Androstane Receptor
AFP gene
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Cytoplasmic and Nuclear

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Identifiers

PMID: 40728263
DOI: 10.5546/aap.2024-10617.eng

Genes

NR1H4
AFP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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