PhD defence: Cystic fibrosis-related liver disease from childhood to adulthood

Insights into diagnosis, progression and the impact of ETI

Christine Højte

PhD thesis

Cystic fibrosis-related liver disease (CFLD) is a significant but poorly understood complication of cystic fibrosis (CF). Why only a subset of individuals develop CFLD is unknown, and early detection remains challenging due to limited sensitivity of liver biomarkers and absence of validated imaging thresholds.

The hepatic effects of CF transmembrane regulator (CFTR) modulator therapy, particularly elexacaftor/tezacaftor/ivacaftor (ETI), are not fully understood, especially in children and those with previous liver abnormalities.

This thesis aims to improve understanding of CFLD from childhood through adulthood by identifying early markers, evaluating non-invasive diagnostics, and examining liver-related outcomes of CFTR modulator therapy, including both potentially beneficial and adverse effects.

2025, 178 pages.

Assessment Committee

Professor Faidon Magkos (Chair), Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.

Associate professor (docent) Anders Lindblad, Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, Sahlgrenska University Hospital, Gothenburg, Sweden.

Clinical professor Henning Grønbæk, Department of Hepatology and Gastroenterology, Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark.

Supervisors

Associate Professor Mette Frahm Olsen, Department of Nutrition, Exercise and Sports, University of Copenhagen, Danish Cystic Fibrosis Cohort, Department of Infectious Diseases, Cystic Fibrosis Center Copenhagen, University Hospital - Rigshospitalet, Copenhagen, Denmark.

Marianne Skov, MD, PhD, Danish Cystic Fibrosis Cohort, Department of Pediatrics and Adolescent Medicine, Cystic Fibrosis Center Copenhagen, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.

Bibi Uhre Nielsen, MD, PhD, Danish Cystic Fibrosis Cohort, Department of Infectious Diseases, Cystic Fibrosis Center Copenhagen, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.

Marianne Hørby-Jørgensen, MD, PhD, Department of Pediatric Gastroenterology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.

Place

Maersk Tower, Panum, Holst Auditorium, Blegdamsvej 3B, 2200 Copenhagen N

Copy of thesis

Ask for a copy of the thesis here: christine.hoejte.dahl@regionh.dk