Kamath B.: Alagille - A multifaceted condition
Prof Dr Binita Kamath of first the United Kingdom (London’s King’s College Hospital), then the United States (Children’s Hospital of Philadelphia), then Toronto’s Hospital for Sick Children – and now, wait for it, the Children’s Hospital of Philadelphia again ! – speaks with us today in the ESPGHAN podcast series. She has seen diagnosis of Alagille syndrome (AGS) move from clinicomorphologic assessment into two-pronged genetic sorting (first JAG1, then NOTCH2) and its treatment move from surgery (liver transplantation, biliary diversion) to pharmacology, with drug-based faecal wasting of bile salts via administration of the intestinal bile-salt uptake inhibitor maralixibat – those are her topics today, both the insights into maralixibat use gained from the Global Alagille Alliance group, or GALA, and the question : “How did you achieve such a rocket of a career, and how would you advise young, ambitious paediatric hepatologists to make the most of their opportunities ? ” She also touches on features of NOTCH2 disease, on the natural history of liver disease in AGS, and on evidence for thyroid dysfunction in AGS, together with forecasts for the evolution of therapy. In passing, this note : The report on maralixibat treatment cited below involves ninety-four co-authors – perhaps a record, at least in paediatric cholestatic liver disease ! Literature : Hansen BE et al. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA. Hepatology 2024 Jun 1 79(6):1279-1292. doi: 10.1097/HEP.0000000000000727. Epub 2023 Dec 25. PMID: 38146932. PMCID: PMC11095900. Dr. Kamath´s favourite song: At Last - Etta James https://open.spotify.com/track/4Hhv2vrOTy89HFRcjU3QOx?si=6f29d0369a3745c6 ESPGHAN favourite Songs can be found on Spotify https://open.spotify.com/playlist/0YIHKjxITLEm9XNyHyypTo