A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis

Aleida G. M. de Vries*, Willie M. Bakker-van Waarde, Anne C. M. Dassel, Monique Losekoot, Evelien W. Duiker, Annette S. H. Gouw, Frank A. J. A. Bodewes

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

1 Citaat (Scopus)


We report a novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) mutation (heterozygote c.130dup, p.Leu44fs) presenting with transient neonatal cholestasis, subsequently followed by persistent elevation of transaminases, maturity-onset diabetes of the young (MODY) type 3 and hepatocellular adenomas. This case report demonstrates that clinical and histological symptoms of HNF1A mutations can present as early as infancy. We recommend screening for HNF1A mutations in patients presenting with otherwise unexplained, non-obstructive, neonatal cholestasis. Based on the location and type of the HNF1A mutations, patients should be screened for development of diabetes and pre-symptomatic hepatocellular adenomas.

Originele taal-2English
Pagina's (van-tot)1295-1297
Aantal pagina's3
TijdschriftJournal of Hepatology
Nummer van het tijdschrift5
StatusPublished - nov-2015

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