Marianne Hørby Jørgensen

Beyond consensus: Identifying divergences in the care of children with portal hypertension

María Mercadal‐Hally, Toni Ilhardt, O. Ackermann, Ruth De Bruyne et autres

Portal hypertension (PHT) poses a significant clinical challenge in children, with management approaches varying widely across different medical centres, as previously reported by the European Society for Paediatric Gastroenterology, Hepatology and Nutrition Portal Hypertension Special Interest Group (PHT-SIG). This brief communication reviews …

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Pathomechanism of Fever‐Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC —Observations In Vitro and In Vivo

Tian Sun, Nicole Hammann, Lina Leghlam, Bianca Peters et autres

BACKGROUND AND AIMS: Pathogenic variants in neuroblastoma amplified sequence (NBAS) gene causes infantile liver failure type 2 (IFLS2; MIM 616483), characterised by recurrent episodes of liver failure triggered by febrile infections. The underlying pathophysiological mechanisms remain incompletely understood. With this work we …

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OS-086 Event-free survival of maralixibat-treated patients with progressive familial intrahepatic cholestasis compared with aligned real-world data of untreated patients from NAPPED

Pedro Miranda Afonso, Alise D. E. de Groot, Mark Nomden, Paola Mian et autres

THU-284 Missense variants in the ABCB11 gene and disease severity in patients with bile salt export pump deficiency

Mark Nomden, Alise D. E. de Groot, Antonia Felzen, Richard J. Thompson et autres

THU-258-YI Familial intrahepatic cholestasis protein 1 (FIC1) deficiency: surgical biliary diversion improves native liver survival only in patients with relatively low serum bile acid levels in early life

Alise D. E. de Groot, Mark Nomden, Antonia Felzen, Pedro Miranda Afonso et autres

Paediatric autoimmune liver disease in Europe, the prospective ERN R-LIVER registry

Mikkel Malham, Gema Muñoz Bartolo, Antal Dezsőfi-Gottl, Steffen Hartleif et autres

BACKGROUND & AIMS: Most literature on paediatric autoimmune liver disease (P-AILD) comprises single-centre, retrospective studies. This study aims to describe robust, real-world data for P-AILD during the first year following diagnosis, utilising data from the prospective European Reference Network (ERN) R-LIVER registry. …

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Incidence, Prevalence, Medication Use, and Transplant Rates in Paediatric Autoimmune Hepatitis—A Nationwide Cohort Study

Mikkel Malham, Sabine Jansson, Fie Brantbjerg Tinning, Iben Møller Jønsson et autres

BACKGROUND AND AIMS: Despite the aggressive nature of paediatric autoimmune hepatitis (P-AIH), population-based epidemiology is poorly described. We aimed to validate an algorithm to identify patients with P-AIH in the Danish National Patient Registry (DNPR) and report incidence rates, prevalence, and describe …

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Three-day fever-associated liver failure and encephalitis in an infant

C. M. Petersen, Pia Jennes Foli-Andersen, Anne Louise Bischoff, Alex Christian Yde Nielsen et autres

Human herpesvirus 6 (HHV-6) infection typically presents as a benign and self-limiting viral illness. However, in rare cases, it can lead to life-threatening complications. In this case a previously healthy four-month-old infant was admitted in circulatory collapse, experiencing seizures and rapid cerebral …

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Severe hepatotoxicity is uncommon following the introduction of Elexacaftor/Tezacaftor/Ivacaftor: A real-world two-years follow-up study of the Danish cystic fibrosis cohort

Christine Højte, Mette Frahm Olsen, Daniel Faurholt‐Jepsen, Marianne Hørby Jørgensen et autres

BACKGROUND: Elexacaftor/Tezacaftor/Ivacaftor (ETI) has raised concerns about liver-related side effects. This study evaluated changes in liver function tests (LFTs) and the prevalence of hepatotoxicity over two years of ETI treatment in a nationwide cohort of Danish people with cystic fibrosis (pwCF) METHODS: …

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Variability in the management of portal hypertension across European countries: A survey‐study by ESPGHAN Portal Hypertension Special Interest Group

Ioannis Roilidis, O. Ackermann, Ruth De Bruyne, Toni Illhardt et autres

Portal hypertension (PHT) remains a significant burden in children with chronic liver disease (CLD) or portal vein thrombosis (PVT). Management strategies vary depending on the underlying cause and clinical presentation. There is a lack of consensus on various aspects of PHT, including …

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Hepatic Phenotype in NBAS‐Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients

Bianca Peters, Lea D. Schlieben, Heiko Brennenstuhl, Çiğdem Arıkan et autres

BACKGROUND AND AIMS: Since described in 2015, NBAS-associated disease has emerged as an important cause of acute liver failure (ALF) in children. We analysed the variable expression, genotype-phenotype association, outcome and prognostic factors of the hepatic involvement. METHODS: Individuals with biallelic pathogenic …

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Portosystemic shunt as a cause of alternating ketotic hypoglycemia and hyperinsulinism in patients with associated anomalies

Henrik Thybo Christesen, Marianne Hørby Jørgensen, Susanne Frevert, Pernille Wied Greisen et autres