Pop T.: Wilson’s disease

Hello, trouble! Yes, we here at ESPGHAN Podcasting Central mean you, our loyal listener. But you’re only the best kind of trouble, and we’re happy to see you again. Today’s guest is Prof Tudor Pop, from Cluj-Napoca, Romania’s second city. Transylvania, the region in northern Romania in which his hometown lies, has a long and complex ethnic history. Thus, you may know Romanian Cluj-Napoca as the Saxon Klausenburg or the Magyar Kolozsvár; Transylvanian settlements that haven’t been named in at least three languages are rare. Prof Pop has remained true to Cluj-Napoca and to the Iuliu Hațieganu University of Medicine and Pharmacy. There, he was awarded his medical diploma in 1995 and, rising through the paediatric ranks, became a professor in 2022. A stroll through Prof Pop’s listings on PubMed makes it clear that, whilst he has contributed widely to paediatrics, his international activity centres on Wilson disease, with special attention to its natural history and to diagnostic accuracy. That disorder is indeed the subject of the work he would like us to consider—a short bibliography is available in the documentation accompanying this podcast on the ESPGHAN website. Today, we can look forward to an account of his experience with Wilson disease in Romania, together with a review of the diagnostic and treatment guidelines promulgated by hepatology associations, particularly newer approaches that may not yet be widely available. Literature Ferenci P et al. Age and sex, but not ATP7B genotype, effectively influence the clinical phenotype of Wilson disease. Hepatology. 2019 Apr;69(4):1464–1476. DOI: 10.1002/hep.30280. Epub 2019 Mar 1. PMID: 30232804. Collins CJ et al. Direct measurement of ATP7B peptides is highly effective in the diagnosis of Wilson disease. Gastroenterology. 2021 Jun;160(7):2367–2382.e1. DOI: 10.1053/j.gastro.2021.02.052. Epub 2021 Feb 25. PMID: 33640437. PMCID: PMC8243898. Pop TL et al. Acute liver failure with hemolytic anemia in children with Wilson's disease: Genotype–phenotype correlations? World J Hepatol. 2021 Oct 27;13(10):1428–1438. DOI: 10.4254/wjh.v13.i10.1428. PMID: 34786177. PMCID: PMC8568853. European Association for the Study of the Liver. EASL-ERN Clinical Practice Guidelines on Wilson's disease. J Hepatol. 2025 Feb 22:S0168-8278(24)02706-5. DOI: 10.1016/j.jhep.2024.11.007. Online ahead of print. PMID: 40089450. Djebrani-Oussedik N et al. Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis. JHEP Rep. 2025 Jul 31;7(10):101537. DOI: 10.1016/j.jhepr.2025.101537. eCollection 2025 Oct. PMID: 40980162. PMCID: PMC12446559. Prof Pop´s favourite song: Enescu - Romanian Rhapsodie No. 1 ESPGHAN favourite Songs can be found on Spotify https://open.spotify.com/playlist/0YIHKjxITLEm9XNyHyypTo