110 results on '"Rock, Nathalie"'
Search Results
2. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
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Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., and Verkade, Henkjan J.
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- 2023
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3. Rituximab‐to‐vaccine interval on SARS‐CoV‐2 immunogenicity in children: The potential role of prior natural infection
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Gualtieri, Renato, primary, Yerly, Sabine, additional, Garcia‐Tarodo, Stephanie, additional, Parvex, Paloma, additional, Rock, Nathalie, additional, Posfay‐Barbe, Klara, additional, Didierlaurent, Arnaud M., additional, Eberhardt, Christiane, additional, and Blanchard‐Rohner, Geraldine, additional
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- 2024
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4. Retrospective analysis of the standardized BARD criteria for acute cholangitis in biliary atresia patients.
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Madadi‐Sanjani, Omid, Calinescu, Ana M., Rock, Nathalie, McLin, Valerie A., Uecker, Marie, Kuebler, Joachim F., Petersen, Claus, and Wildhaber, Barbara E.
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- 2024
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5. Predictors for pathological bone fractures in children undergoing liver transplantation: A retrospective cohort study
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Astolfi, Damiano, primary, Rock, Nathalie, additional, Ceroni, Dimitri, additional, and Wildhaber, Barbara E., additional
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- 2024
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6. Genetic landscape of pediatric acute liver failure of indeterminate origin
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MDL patientenzorg, Lenz, Dominic, Schlieben, Lea D, Shimura, Masaru, Bianzano, Alyssa, Smirnov, Dmitrii, Kopajtich, Robert, Berutti, Riccardo, Adam, Rüdiger, Aldrian, Denise, Baric, Ivo, Baumann, Ulrich, Bozbulut, Neslihan Eksi, Brugger, Melanie, Brunet, Theresa, Bufler, Philip, Burnytė, Birutė, Calvo, Pier Luigi, Crushell, Ellen, Dalgıç, Buket, Das, Anibh M, Dezsőfi, Antal, Distelmaier, Felix, Fichtner, Alexander, Freisinger, Peter, Garbade, Sven F, Gaspar, Harald, Goujon, Louise, Hadzic, Nedim, Hartleif, Steffen, Hegen, Bianca, Hempel, Maja, Henning, Stephan, Hoerning, Andre, Houwen, Roderick, Hughes, Joanne, Iorio, Raffaele, Iwanicka-Pronicka, Katarzyna, Jankofsky, Martin, Junge, Norman, Kanavaki, Ino, Kansu, Aydan, Kaspar, Sonja, Kathemann, Simone, Kelly, Deidre, Kırsaçlıoğlu, Ceyda Tuna, Knoppke, Birgit, Kohl, Martina, Kölbel, Heike, Kölker, Stefan, Konstantopoulou, Vassiliki, Krylova, Tatiana, Kuloğlu, Zarife, Kuster, Alice, Laass, Martin W, Lainka, Elke, Lurz, Eberhard, Mandel, Hanna, Mayerhanser, Katharina, Mayr, Johannes A, McKiernan, Patrick, McLean, Patricia, McLin, Valerie, Mention, Karine, Müller, Hanna, Pasquier, Laurent, Pavlov, Martin, Pechatnikova, Natalia, Peters, Bianca, Petković Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Pilic, Denisa, Rajwal, Sanjay, Rock, Nathalie, Roetig, Agnès, Santer, René, Schenk, Wilfried, Semenova, Natalia, Sokollik, Christiane, Sturm, Ekkehard, Taylor, Robert W, Tschiedel, Eva, Urbonas, Vaidotas, Urreizti, Roser, Vermehren, Jan, Vockley, Jerry, Vogel, Georg-Friedrich, Wagner, Matias, van der Woerd, Wendy, Wortmann, Saskia B, Zakharova, Ekaterina, Hoffmann, Georg Friedrich, Meitinger, Thomas, Murayama, Kei, Staufner, Christian, Prokisch, Holger, MDL patientenzorg, Lenz, Dominic, Schlieben, Lea D, Shimura, Masaru, Bianzano, Alyssa, Smirnov, Dmitrii, Kopajtich, Robert, Berutti, Riccardo, Adam, Rüdiger, Aldrian, Denise, Baric, Ivo, Baumann, Ulrich, Bozbulut, Neslihan Eksi, Brugger, Melanie, Brunet, Theresa, Bufler, Philip, Burnytė, Birutė, Calvo, Pier Luigi, Crushell, Ellen, Dalgıç, Buket, Das, Anibh M, Dezsőfi, Antal, Distelmaier, Felix, Fichtner, Alexander, Freisinger, Peter, Garbade, Sven F, Gaspar, Harald, Goujon, Louise, Hadzic, Nedim, Hartleif, Steffen, Hegen, Bianca, Hempel, Maja, Henning, Stephan, Hoerning, Andre, Houwen, Roderick, Hughes, Joanne, Iorio, Raffaele, Iwanicka-Pronicka, Katarzyna, Jankofsky, Martin, Junge, Norman, Kanavaki, Ino, Kansu, Aydan, Kaspar, Sonja, Kathemann, Simone, Kelly, Deidre, Kırsaçlıoğlu, Ceyda Tuna, Knoppke, Birgit, Kohl, Martina, Kölbel, Heike, Kölker, Stefan, Konstantopoulou, Vassiliki, Krylova, Tatiana, Kuloğlu, Zarife, Kuster, Alice, Laass, Martin W, Lainka, Elke, Lurz, Eberhard, Mandel, Hanna, Mayerhanser, Katharina, Mayr, Johannes A, McKiernan, Patrick, McLean, Patricia, McLin, Valerie, Mention, Karine, Müller, Hanna, Pasquier, Laurent, Pavlov, Martin, Pechatnikova, Natalia, Peters, Bianca, Petković Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Pilic, Denisa, Rajwal, Sanjay, Rock, Nathalie, Roetig, Agnès, Santer, René, Schenk, Wilfried, Semenova, Natalia, Sokollik, Christiane, Sturm, Ekkehard, Taylor, Robert W, Tschiedel, Eva, Urbonas, Vaidotas, Urreizti, Roser, Vermehren, Jan, Vockley, Jerry, Vogel, Georg-Friedrich, Wagner, Matias, van der Woerd, Wendy, Wortmann, Saskia B, Zakharova, Ekaterina, Hoffmann, Georg Friedrich, Meitinger, Thomas, Murayama, Kei, Staufner, Christian, and Prokisch, Holger
- Published
- 2024
7. Listing for Transplantation; Postoperative Management and Long-Term Follow-Up
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Rock, Nathalie Marie, McLin, Valérie Anne, and D'Antiga, Lorenzo, editor
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- 2019
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8. Genotype correlates with the natural history of severe bile salt export pump deficiency
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van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre A., Nebbia, Gabriella, Arnell, Henrik, Björn Fischler, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Bunt, Ton M.G., Hansen, Bettina E., and Verkade, Henkjan J.
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- 2020
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9. Genetic landscape of pediatric acute liver failure of indeterminate origin
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Lenz, Dominic, primary, Schlieben, Lea D., additional, Shimura, Masaru, additional, Bianzano, Alyssa, additional, Smirnov, Dmitrii, additional, Kopajtich, Robert, additional, Berutti, Riccardo, additional, Adam, Rüdiger, additional, Aldrian, Denise, additional, Baric, Ivo, additional, Baumann, Ulrich, additional, Bozbulut, Neslihan E., additional, Brugger, Melanie, additional, Brunet, Theresa, additional, Bufler, Philip, additional, Burnytė, Birutė, additional, Calvo, Pier L., additional, Crushell, Ellen, additional, Dalgiç, Buket, additional, Das, Anibh M., additional, Dezsőfi, Antal, additional, Distelmaier, Felix, additional, Fichtner, Alexander, additional, Freisinger, Peter, additional, Garbade, Sven F., additional, Gaspar, Harald, additional, Goujon, Louise, additional, Hadzic, Nedim, additional, Hartleif, Steffen, additional, Hegen, Bianca, additional, Hempel, Maja, additional, Henning, Stephan, additional, Hoerning, Andre, additional, Houwen, Roderick, additional, Hughes, Joanne, additional, Iorio, Raffaele, additional, Iwanicka-Pronicka, Katarzyna, additional, Jankofsky, Martin, additional, Junge, Norman, additional, Kanavaki, Ino, additional, Kansu, Aydan, additional, Kaspar, Sonja, additional, Kathemann, Simone, additional, Kelly, Deidre, additional, Kirsaçlioğlu, Ceyda T., additional, Knoppke, Birgit, additional, Kohl, Martina, additional, Kölbel, Heike, additional, Kölker, Stefan, additional, Konstantopoulou, Vassiliki, additional, Krylova, Tatiana, additional, Kuloğlu, Zarife, additional, Kuster, Alice, additional, Laass, Martin W., additional, Lainka, Elke, additional, Lurz, Eberhard, additional, Mandel, Hanna, additional, Mayerhanser, Katharina, additional, Mayr, Johannes A., additional, McKiernan, Patrick, additional, McClean, Patricia, additional, McLin, Valerie, additional, Mention, Karine, additional, Müller, Hanna, additional, Pasquier, Laurent, additional, Pavlov, Martin, additional, Pechatnikova, Natalia, additional, Peters, Bianca, additional, Petković Ramadža, Danijela, additional, Piekutowska-Abramczuk, Dorota, additional, Pilic, Denisa, additional, Rajwal, Sanjay, additional, Rock, Nathalie, additional, Roetig, Agnès, additional, Santer, René, additional, Schenk, Wilfried, additional, Semenova, Natalia, additional, Sokollik, Christiane, additional, Sturm, Ekkehard, additional, Taylor, Robert W., additional, Tschiedel, Eva, additional, Urbonas, Vaidotas, additional, Urreizti, Roser, additional, Vermehren, Jan, additional, Vockley, Jerry, additional, Vogel, Georg-Friedrich, additional, Wagner, Matias, additional, van der Woerd, Wendy, additional, Wortmann, Saskia B., additional, Zakharova, Ekaterina, additional, Hoffmann, Georg F., additional, Meitinger, Thomas, additional, Murayama, Kei, additional, Staufner, Christian, additional, and Prokisch, Holger, additional
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- 2023
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10. Preparation for Pediatric Liver Transplant: Medical Aspects
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Rock, Nathalie Marie, primary and McLin, Valérie Anne, additional
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- 2021
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11. Understanding and Responding to the Impact of COVID-19 on Paediatric Gastroenterology Training & Practice of Young ESPGHAN Members
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Niţă, Andreia F., Tsita, Despina, Grima, Anne-Marie, Cameron, Fiona, Rock, Nathalie M., and Tapsas, Dimitrios
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- 2021
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12. P1 Analysis of long-term treatment effects of odevixibat on clinical outcomes in children with progressive familial intrahepatic cholestasis in odevixibat clinical studies vs external controls from the NAPPED database
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Hansen, Bettina, primary, Valcheva, Velichka, additional, Yu, Qifeng, additional, Wessel, Daan BE van, additional, Thompson, Richard J, additional, Gonzales, Emmanuel, additional, Jankowska, Irena, additional, Sokal, Etienne, additional, Grammatikopoulos, Tassos, additional, Kadaristiana, Agustina, additional, Jacquemin, Emmanuel, additional, Spraul, Anne, additional, Lipiński, Patryk, additional, Czubkowski, Piotr, additional, Rock, Nathalie, additional, Shagrani, Mohammad, additional, Kumar, Kishwer, additional, Alkuraya, Fowzan, additional, Sateesh, Meddirevula, additional, Broering, Dieter, additional, Nicastro, Emanuele, additional, Kelly, Deirdre A, additional, Nebbia, Gabriella, additional, Arnell, Henrik, additional, Fischler, Björn, additional, Serranti, Daniele, additional, Arikan, Cigdem, additional, Polat, Esra, additional, Debray, Dominique, additional, Lacaille, Florence, additional, Goncalves, Cristina, additional, Hierro, Loreto, additional, Bartolo, Gema Muñoz, additional, Mozer-Glassberg, Yael, additional, Azaz, Amer, additional, Brecelj, Jernej, additional, Dezsőfi, Antal, additional, Calvo, Pier Luigi, additional, Grabhorn, Enke, additional, Sturm, Ekkehard, additional, Woerd, Wendy L van der, additional, Kamath, Binita M, additional, Wang, Jian-She, additional, Li, Liting, additional, Durmaz, Özlem, additional, Onal, Zerrin, additional, Felzen, Antonia, additional, Nomden, Mark, additional, Sonajalg, Jaak, additional, Stein, Philip, additional, Ni, Quanhong, additional, Clemson, Christine, additional, Mattsson, Jan P, additional, and Verkade, Henkjan J, additional
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- 2023
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13. Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients with Alagille syndrome
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Rock, Nathalie, Demaret, Tanguy, Stéphenne, Xavier, Scheers, Isabelle, Smets, Francoise, McLin, Valérie A., Boschi, Antonella, and Sokal, Etienne M.
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- 2020
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14. Analysis of long-term treatment effects of odevixibat on clinical outcomes in children with progressive familial intrahepatic cholestasis in odevixibat clinical studies vs external controls from the NAPPED database
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Hansen, Bettina, primary, Valcheva, Velichka, additional, Yu, Qifeng, additional, van Wessel, Daan, additional, Thompson, Richard, additional, Gonzalès, Emmanuel, additional, Jankowska, Irena, additional, Sokal, Etienne, additional, Grammatikopoulos, Tassos, additional, Kadaristiana, Agustina, additional, Jacquemin, Emmanuel, additional, Spraul, Anne, additional, Lipiński, Patryk, additional, Czubkowski, Piotr, additional, Rock, Nathalie, additional, Shagrani, Mohammad, additional, Kumar, Kishwer, additional, Alkuraya, Fowzan, additional, Sateesh, Meddirevula, additional, Broering, Dieter Clemens, additional, Nicastro, Emanuele, additional, Kelly, Deirdre, additional, Nebbia, Gabriella, additional, Arnell, Henrik, additional, Fischler, Björn, additional, Serranti, Daniele, additional, Arıkan, Cigdem, additional, Polat, Esra, additional, Debray, Dominique, additional, Lacaille, Florence, additional, Gonçalves, Cristina, additional, Llanillo, Loreto Hierro, additional, Bartolo, Gema Muñoz, additional, Mozer-Glassberg, Yael, additional, Azaz, Amer, additional, Brecelj, Jernej, additional, Dezsőfi, Antal, additional, Calvo, Pier Luigi, additional, Grabhorn, Enke, additional, Sturm, Ekkehard, additional, van der Woerd, Wendy L., additional, Kamath, Binita M., additional, Wang, Jian-She, additional, Liting, Li, additional, Durmaz, Ozlem, additional, Önal, Zerrin, additional, Felzen, Antonia, additional, Nomden, Mark, additional, Sonajalg, Jaak, additional, Stein, Philip, additional, Ni, Quanhong, additional, Clemson, Christine, additional, Mattsson, Jan, additional, and Verkade, Henkjan J., additional
- Published
- 2023
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15. Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group
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Murillo Perez, Carla Fiorella, primary, Vandriel, Shannon M., additional, Wang, Jian-She, additional, Liting, Li, additional, She, Huiyu, additional, Jankowska, Irena, additional, Czubkowski, Piotr, additional, Gliwicz, Dorota, additional, Gonzalès, Emmanuel, additional, Jacquemin, Emmanuel, additional, Bouligand, Jérôme, additional, D’Antiga, Lorenzo, additional, Nicastro, Emanuele, additional, Fischler, Björn, additional, Arnell, Henrik, additional, Siew, Susan, additional, Stormon, Michael, additional, Loomes, Kathleen M., additional, Piccoli, David A., additional, Rand, Elizabeth B., additional, Squires, James E., additional, Karpen, Saul J., additional, Romero, Rene, additional, Kasahara, Mureo, additional, Önal, Zerrin, additional, Sokal, Etienne, additional, Demaret, Tanguy, additional, Wiecek, Sabina, additional, Lacaille, Florence, additional, Debray, Dominique, additional, Hardikar, Winita, additional, Shankar, Sahana, additional, Valentino, Pamela, additional, Sundaram, Shikha, additional, Chaidez, Alexander, additional, Ebel, Noelle, additional, Feinstein, Jeffrey, additional, Mozar-Glazberg, Yael, additional, Lin, Henry, additional, Rock, Nathalie, additional, Verkade, Henkjan J., additional, Jensen, M.K., additional, Jaramillo, Catalina, additional, Kim, Kyungmo, additional, Oh, Seak Hee, additional, Brecelj, Jernej, additional, Alam, Seema, additional, Indolfi, Giuseppe, additional, Blondet, Niviann, additional, Fawaz, Rima, additional, Nastasio, Silvia, additional, Calvo, Pier Luigi, additional, Nebbia, Gabriella, additional, Arıkan, Cigdem, additional, Larson-Nath, Catherine, additional, Zizzo, Andréanne N., additional, Sandahl, Thomas Damgaard, additional, Tzivinikos, Christos, additional, El-Koofy, Nehal, additional, Elmonem, Mohamed, additional, Desai, Dev, additional, Karnsakul, Wikrom, additional, Karthikeyan, Palaniswamy, additional, Bulut, Pinar, additional, Kerkar, Nanda, additional, Wolters, Victorien, additional, Roberts, Amin J, additional, Evans, Helen, additional, Sanchez, Maria Camila, additional, Cavalieri, Maria Lorena, additional, Kelly, Deirdre, additional, Lee, Way Seah, additional, Hajinicolaou, Christina, additional, Lertudomphonwanit, Chatmanee, additional, Fischer, Ryan, additional, Bernabeu, Jesús Quintero, additional, Quiros-Tejeira, Ruben E., additional, Melere, Melina, additional, Carvalho, Elisa, additional, Eshun, John, additional, Zellos, Aglaia, additional, Dezsőfi, Antal, additional, Pinto, Raquel Borges, additional, Schwarz, Kathleen, additional, Rogalidou, Maria, additional, Garcia, Jennifer, additional, Tamara, María Legarda, additional, Beretta, Marisa, additional, Mujawar, Quais, additional, Santos-Silva, Ermelinda, additional, Busoms, Cristina Molera, additional, Lurz, Eberhard, additional, Gonçalves, Cristina, additional, Jimenez-Rivera, Carolina, additional, Bañales, Jesús M., additional, Shah, Uzma, additional, Thompson, Richard, additional, Hansen, Bettina, additional, and Kamath, Binita M., additional
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- 2023
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16. Congenital Hepatic Fibrosis, Caroli’s Disease, and Other Fibrocystic Liver Diseases
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Rock, Nathalie, Kanavaki, Ino, McLin, Valérie, Guandalini, Stefano, editor, Dhawan, Anil, editor, and Branski, David, editor
- Published
- 2016
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17. Natural History of Liver Disease in a Large International Cohort of Children with Alagille syndrome: Results from The <scp>GALA</scp> Study
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UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Vandriel, Shannon M., Li, Li‐Ting, She, Huiyu, Wang, Jian‐She, Gilbert, Melissa A., Jankowska, Irena, Czubkowski, Piotr, Gliwicz‐Miedzińska, Dorota, Gonzales, Emmanuel M., Jacquemin, Emmanuel, Bouligand, Jérôme, Spinner, Nancy B., Loomes, Kathleen M., Piccoli, David A., D'Antiga, Lorenzo, Nicastro, Emanuele, Sokal, Etienne, Demaret,Tanguy, Ebel, Noelle H., Feinstein, Jeffrey A., Fawaz, Rima, Nastasio, Silvia, Lacaille, Florence, Debray, Dominique, Arnell, Henrik, Fischler, Björn, Siew, Susan, Stormon, Michael, Karpen, Saul J., Romero, Rene, Kim, Kyung Mo, Baek, Woo Yim, Hardikar, Winita, Shankar, Sahana, Roberts, Amin J., Evans, Helen M., Jensen, M. Kyle, Kavan, Marianne, Sundaram, Shikha S., Chaidez, Alexander, Karthikeyan, Palaniswamy, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Verkade, Henkjan J., Lee, Way Seah, Squires, James E., Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan T., Larson‐Nath, Catherine, Mozer‐Glassberg, Yael, Arikan, Cigdem, Lin, Henry C., Quintero Bernabeu, Jesus, Alam, Seema, Kelly, Deirdre, Carvalho, Elisa, Ferreira, Cristina Targa, Indolfi, Giuseppe, Quiros‐Tejeira, Ruben E., Bulut, Pinar, Calvo, Pier Luigi, Önal, Zerrin, Valentino, Pamela L., Desai, Dev M., Eshun, John, Rogalidou, Maria, Dezsőfi, Antal, Wiecek, Sabina, Nebbia, Gabriella, Borges Pinto, Raquel, Wolters, Victorien M., Tamara, María Legarda, Zizzo, Andréanne N., Garcia, Jennifer, Schwarz, Kathleen, Beretta, Marisa, Sandahl, Thomas Damgaard, Jimenez‐Rivera, Carolina, Kerkar, Nanda, Brecelj, Jernej, Mujawar, Quais, Rock, Nathalie, Busoms, Cristina Molera, Karnsakul, Wikrom, Lurz, Eberhard, Santos‐Silva, Ermelinda, Blondet, Niviann, Bujanda, Luis, Shah, Uzma, Thompson, Richard J., Hansen, Bettina E., Kamath, Binita M., UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Vandriel, Shannon M., Li, Li‐Ting, She, Huiyu, Wang, Jian‐She, Gilbert, Melissa A., Jankowska, Irena, Czubkowski, Piotr, Gliwicz‐Miedzińska, Dorota, Gonzales, Emmanuel M., Jacquemin, Emmanuel, Bouligand, Jérôme, Spinner, Nancy B., Loomes, Kathleen M., Piccoli, David A., D'Antiga, Lorenzo, Nicastro, Emanuele, Sokal, Etienne, Demaret,Tanguy, Ebel, Noelle H., Feinstein, Jeffrey A., Fawaz, Rima, Nastasio, Silvia, Lacaille, Florence, Debray, Dominique, Arnell, Henrik, Fischler, Björn, Siew, Susan, Stormon, Michael, Karpen, Saul J., Romero, Rene, Kim, Kyung Mo, Baek, Woo Yim, Hardikar, Winita, Shankar, Sahana, Roberts, Amin J., Evans, Helen M., Jensen, M. Kyle, Kavan, Marianne, Sundaram, Shikha S., Chaidez, Alexander, Karthikeyan, Palaniswamy, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Verkade, Henkjan J., Lee, Way Seah, Squires, James E., Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan T., Larson‐Nath, Catherine, Mozer‐Glassberg, Yael, Arikan, Cigdem, Lin, Henry C., Quintero Bernabeu, Jesus, Alam, Seema, Kelly, Deirdre, Carvalho, Elisa, Ferreira, Cristina Targa, Indolfi, Giuseppe, Quiros‐Tejeira, Ruben E., Bulut, Pinar, Calvo, Pier Luigi, Önal, Zerrin, Valentino, Pamela L., Desai, Dev M., Eshun, John, Rogalidou, Maria, Dezsőfi, Antal, Wiecek, Sabina, Nebbia, Gabriella, Borges Pinto, Raquel, Wolters, Victorien M., Tamara, María Legarda, Zizzo, Andréanne N., Garcia, Jennifer, Schwarz, Kathleen, Beretta, Marisa, Sandahl, Thomas Damgaard, Jimenez‐Rivera, Carolina, Kerkar, Nanda, Brecelj, Jernej, Mujawar, Quais, Rock, Nathalie, Busoms, Cristina Molera, Karnsakul, Wikrom, Lurz, Eberhard, Santos‐Silva, Ermelinda, Blondet, Niviann, Bujanda, Luis, Shah, Uzma, Thompson, Richard J., Hansen, Bettina E., and Kamath, Binita M.
- Abstract
Background: Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers and real-world data are lacking. This study aimed to elucidate the natural history of liver disease in a contemporary, international, cohort of children with ALGS. Methods: Multicenter retrospective study of children with a clinically and/or genetically confirmed ALGS diagnosis, born Jan-1997 - Aug-2019. Native liver survival (NLS) and event-free survival rates were assessed. Cox models were constructed to identify early biochemical predictors of clinically evident portal hypertension (CEPH) and NLS. Results: 1433 children (57% male) from 67 centers in 29 countries were included. 10 and 18-years NLS rates were 54.4% and 40.3%. By 10 and 18-years, 51.5% and 66.0% of ALGS children experienced ≥1 adverse liver-related event (CEPH, transplant or death). Children (>6 and ≤12 months) with median total bilirubin (TB) levels between ≥5.0 and <10.0 mg/dL had a 4.1-fold (95% CI 1.6 - 10.8) and those ≥10.0 mg/dL had an 8.0-fold (95% CI 3.4 - 18.4) increased risk of developing CEPH compared with those <5.0 mg/dL. Median TB levels between ≥5.0 and <10.0 mg/dL and >10.0 mg/dL were associated with a 4.8 (95% CI 2.4 - 9.7) and 15.6 (95% CI 8.7 - 28.2) increased risk of transplantation relative to <5.0 mg/dL. Median TB <5.0 mg/dL were associated with higher NLS rates relative to ≥5.0 mg/dL, with 79% reaching adulthood with native liver (p<0.001). Conclusions: In this large international cohort of ALGS, only 40.3% of children reach adulthood with their native liver. A TB <5.0 mg/dL between 6-and-12-months of age is associated with better hepatic outcomes. These thresholds provide clinicians with an objective tool to assist with clinical decision-making and in the evaluation of novel therapies.
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- 2023
18. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
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UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., Verkade, Henkjan J., UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., and Verkade, Henkjan J.
- Abstract
Background & aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with relatively mild phenotypes, responsive to surgical interruption of the enterohepatic circulation (siEHC). The phenotype of patients with a compound heterozygous genotype of one p.D482G or p.E297G mutation and one PPTM has remained unclear. We aimed to assess their genotype-phenotype relationship. Methods: From the NAPPED database, we selected patients with homozygous p.D482G or p.E297G mutations (BSEP1/1; n = 31), with one p.D482G or p.E297G, and one PPTM (BSEP1/3; n = 30), and with two PPTMs (BSEP3/3; n = 77). We compared clinical presentation, native liver survival (NLS), and the effect of siEHC on NLS. Results: The groups had a similar median age at presentation (0.7-1.3 years). Overall NLS at age 10 years was 21% in BSEP1/3 vs. 75% in BSEP1/1 and 23% in BSEP3/3 (p <0.001). Without siEHC, NLS in the BSEP1/3 group was similar to that in BSEP3/3, but considerably lower than in BSEP1/1 (at age 10 years: 38%, 30%, and 71%, respectively; p = 0.003). After siEHC, BSEP1/3 and BSEP3/3 were associated with similarly low NLS, while NLS was much higher in BSEP1/1 (10 years after siEHC, 27%, 14%, and 92%, respectively; p <0.001). Conclusions: Individuals with BSEP deficiency with one p.E297G or p.D482G mutation and one PPTM have a similarly severe disease course and low responsiveness to siEHC as those with two PPTMs. This identifies a considerable subgroup of patients who are unlikely to benefit from interruption of the enterohepatic circulation by either surgical or ileal bile acid transporter inhibitor treatment. Impact and implications: This manuscript defines the clinical features and prognosis of individuals with BSEP deficiency involving the combination of one relatively mild and one very severe BSEP deficiency mutation. Until
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- 2023
19. Epidemiology, clinical features and management of autoimmune hepatitis in Switzerland: a retrospective and prospective cohort study
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Ludz, Christine, Stirnimann, Guido, Semela, David, Mertens, Joachim; https://orcid.org/0000-0003-2007-0308, Kremer, Andreas E; https://orcid.org/0000-0002-9263-948X, Filipowicz Sinnreich, Magdalena, Sokollik, Christiane, Bernsmeier, Christine, Bresson-Hadni, Solange, McLin, Valérie, Rock, Nathalie, Braegger, Christian; https://orcid.org/0000-0001-8069-9875, Posovszky, Carsten; https://orcid.org/0000-0002-9487-8812, Müller, Pascal, Cremer, Matthias, De Gottardi, Andrea, Galante, Antonio, Furlano, Raoul, Righini-Grunder, Franziska, Becker, Björn, Böhm, Stephan, Heyland, Klaas, Nydegger, Andreas, Limoni, Costanzo, Vergani, Diego, Mieli-Vergani, Giorgina, Di Bartolomeo, Claudia, Cerny, Andreas, Beretta-Piccoli, Benedetta Terziroli, Ludz, Christine, Stirnimann, Guido, Semela, David, Mertens, Joachim; https://orcid.org/0000-0003-2007-0308, Kremer, Andreas E; https://orcid.org/0000-0002-9263-948X, Filipowicz Sinnreich, Magdalena, Sokollik, Christiane, Bernsmeier, Christine, Bresson-Hadni, Solange, McLin, Valérie, Rock, Nathalie, Braegger, Christian; https://orcid.org/0000-0001-8069-9875, Posovszky, Carsten; https://orcid.org/0000-0002-9487-8812, Müller, Pascal, Cremer, Matthias, De Gottardi, Andrea, Galante, Antonio, Furlano, Raoul, Righini-Grunder, Franziska, Becker, Björn, Böhm, Stephan, Heyland, Klaas, Nydegger, Andreas, Limoni, Costanzo, Vergani, Diego, Mieli-Vergani, Giorgina, Di Bartolomeo, Claudia, Cerny, Andreas, and Beretta-Piccoli, Benedetta Terziroli
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BACKGROUND AND AIMS: The Swiss Autoimmune Hepatitis Cohort Study is a nationwide registry, initiated in 2017, that collects retrospective and prospective clinical data and biological samples from patients of all ages with autoimmune hepatitis treated at Swiss hepatology centres. Here, we report the analysis of the first 5 years of registry data. RESULTS: A total of 291 patients with autoimmune hepatitis have been enrolled, 30 of whom were diagnosed before 18 years of age and composed the paediatric cohort. Paediatric cohort: median age at diagnosis 12.5 years (range 1–17, interquartile range (IQR) 8–15), 16 (53%) girls, 6 (32%) with type 2 autoimmune hepatitis, 8 (27%) with autoimmune sclerosing cholangitis, 1 with primary biliary cholangitis variant syndrome, 4 (15%) with inflammatory bowel disease and 10 (41%) with advanced liver fibrosis at diagnosis. Adult cohort: median age at diagnosis 54 years (range 42–64, IQR 18–81), 185 (71%) women, 51 (20%) with primary biliary cholangitis variant syndrome, 22 (8%) with primary sclerosing cholangitis variant syndrome, 9 (4%) with inflammatory bowel disease and 66 (32%) with advanced liver fibrosis at diagnosis. The median follow-up time for the entire cohort was 5.2 years (IQR 3–9.3 years). Treatment in children: 29 (97%) children were initially treated with corticosteroids, 28 of whom received combination treatment with azathioprine. Budesonide was used in four children, all in combination with azathioprine. Mycophenolate mofetil was used in five children, all of whom had previously received corticosteroids and thiopurine. Treatment in adults (data available for 228 patients): 219 (96%) were treated with corticosteroids, mostly in combination with azathioprine. Predniso(lo)ne was the corticosteroid used in three-quarters of patients; the other patients received budesonide. A total of 78 (33%) patients received mycophenolate mofetil, 62 of whom had previously been treated with azathioprine. Complete biochemical response w
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- 2023
20. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
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Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Felzen, Antonia; van Wessel, Daan B.E.; Gonzales, Emmanuel; Thompson, Richard J.; Jankowska, Irena; Shneider, Benjamin L.; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipi?ski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Björn; Hulscher, Jan B.F.; Serranti, Daniele; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezs?fi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J.; Kamath, Binita M.; Wang, Jian-She; Li, Liting; Durmaz, Özlem; Kerkar, Nanda; Jørgensen, Marianne Hørby; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordoñez; Wang, Heng; Sency, Valerie; Kim, Kyung Mo; Chen, Huey-Ling; de Carvalho, Elisa; Fabre, Alexandre; Bernabeu, Jesus Quintero; Zellos, Aglaia; Alonso, Estella M.; Sokol, Ronald J.; Suchy, Frederick J.; Loomes, Kathleen M.; McKiernan, Patrick J.; Rosenthal, Philip; Turmelle, Yumirle; Horslen, Simon; Schwarz, Kathleen; Bezerra, Jorge A.; Wang, Kasper; Hansen, Bettina E.; Verkade, Henkjan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Arıkan, Çiğdem (ORCID 0000-0002-0794-2741 & YÖK ID 240198), Felzen, Antonia; van Wessel, Daan B.E.; Gonzales, Emmanuel; Thompson, Richard J.; Jankowska, Irena; Shneider, Benjamin L.; Sokal, Etienne; Grammatikopoulos, Tassos; Kadaristiana, Agustina; Jacquemin, Emmanuel; Spraul, Anne; Lipi?ski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Björn; Hulscher, Jan B.F.; Serranti, Daniele; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Muñoz Bartolo, Gema; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezs?fi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J.; Kamath, Binita M.; Wang, Jian-She; Li, Liting; Durmaz, Özlem; Kerkar, Nanda; Jørgensen, Marianne Hørby; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordoñez; Wang, Heng; Sency, Valerie; Kim, Kyung Mo; Chen, Huey-Ling; de Carvalho, Elisa; Fabre, Alexandre; Bernabeu, Jesus Quintero; Zellos, Aglaia; Alonso, Estella M.; Sokol, Ronald J.; Suchy, Frederick J.; Loomes, Kathleen M.; McKiernan, Patrick J.; Rosenthal, Philip; Turmelle, Yumirle; Horslen, Simon; Schwarz, Kathleen; Bezerra, Jorge A.; Wang, Kasper; Hansen, Bettina E.; Verkade, Henkjan J., Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), and School of Medicine
- Abstract
Background & Aims: bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with relatively mild phenotypes, responsive to surgical interruption of the enterohepatic circulation (siEHC). The phenotype of patients with a compound heterozygous genotype of one p.D482G or p.E297G mutation and one PPTM has remained unclear. We aimed to assess their genotype-phenotype relationship. Methods: from the NAPPED database, we selected patients with homozygous p.D482G or p.E297G mutations (BSEP1/1; n = 31), with one p.D482G or p.E297G, and one PPTM (BSEP1/3; n = 30), and with two PPTMs (BSEP3/3; n = 77). We compared clinical presentation, native liver survival (NLS), and the effect of siEHC on NLS. Results: the groups had a similar median age at presentation (0.7-1.3 years). Overall NLS at age 10 years was 21% in BSEP1/3 vs. 75% in BSEP1/1 and 23% in BSEP3/3 (p <0.001). Without siEHC, NLS in the BSEP1/3 group was similar to that in BSEP3/3, but considerably lower than in BSEP1/1 (at age 10 years: 38%, 30%, and 71%, respectively; p = 0.003). After siEHC, BSEP1/3 and BSEP3/3 were associated with similarly low NLS, while NLS was much higher in BSEP1/1 (10 years after siEHC, 27%, 14%, and 92%, respectively; p <0.001). Conclusions: individuals with BSEP deficiency with one p.E297G or p.D482G mutation and one PPTM have a similarly severe disease course and low responsiveness to siEHC as those with two PPTMs. This identifies a considerable subgroup of patients who are unlikely to benefit from interruption of the enterohepatic circulation by either surgical or ileal bile acid transporter inhibitor treatment. Impact and implications: this manuscript defines the clinical features and prognosis of individuals with BSEP deficiency involving the combination of one relatively mild and one very severe BSEP deficiency mutation. Until, 1. MD/PhD scholarship from the University of Groningen, Groningen, The Netherlands 2. ESPGHAN Networking Grant 2019 3. ChiLDReN and CTSA National Institutes of Health grants: Ann & Robert H. Lurie Children's Hospital, Chicago: U01DK062436; University of Colorado, Denver: U01DK62453, UL1 TR002535; Baylor college of Medicine, Houston: U01DK103149; Children's Hospital of Philadelphia, Philadelphia: U01DK062481, UL1TR000003; Children's Hospital of Pittsburgh, Pittsburgh: U01DK062466; University of California, San Francisco U01DK062500; University of California, San Francisco CTSI grant UL1TR001872; Riley Hospital for Children, Indianapolis: U01DK084536; Seattle Children’s Hospital, Seattle: DK084575; Children’s Hospital Los Angeles, California: U01DK084538. 4. Unrestrictive research grant from Albireo 5. Unrestrictive research grant from Mirum Pharmaceuticals. 6. C&W de Boer Stichting research grant.
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- 2023
21. THU-291 - Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group
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Murillo Perez, Carla Fiorella, Vandriel, Shannon M., Wang, Jian-She, Liting, Li, She, Huiyu, Jankowska, Irena, Czubkowski, Piotr, Gliwicz, Dorota, Gonzalès, Emmanuel, Jacquemin, Emmanuel, Bouligand, Jérôme, D’Antiga, Lorenzo, Nicastro, Emanuele, Fischler, Björn, Arnell, Henrik, Siew, Susan, Stormon, Michael, Loomes, Kathleen M., Piccoli, David A., Rand, Elizabeth B., Squires, James E., Karpen, Saul J., Romero, Rene, Kasahara, Mureo, Önal, Zerrin, Sokal, Etienne, Demaret, Tanguy, Wiecek, Sabina, Lacaille, Florence, Debray, Dominique, Hardikar, Winita, Shankar, Sahana, Valentino, Pamela, Sundaram, Shikha, Chaidez, Alexander, Ebel, Noelle, Feinstein, Jeffrey, Mozar-Glazberg, Yael, Lin, Henry, Rock, Nathalie, Verkade, Henkjan J., Jensen, M.K., Jaramillo, Catalina, Kim, Kyungmo, Oh, Seak Hee, Brecelj, Jernej, Alam, Seema, Indolfi, Giuseppe, Blondet, Niviann, Fawaz, Rima, Nastasio, Silvia, Calvo, Pier Luigi, Nebbia, Gabriella, Arıkan, Cigdem, Larson-Nath, Catherine, Zizzo, Andréanne N., Sandahl, Thomas Damgaard, Tzivinikos, Christos, El-Koofy, Nehal, Elmonem, Mohamed, Desai, Dev, Karnsakul, Wikrom, Karthikeyan, Palaniswamy, Bulut, Pinar, Kerkar, Nanda, Wolters, Victorien, Roberts, Amin J, Evans, Helen, Sanchez, Maria Camila, Cavalieri, Maria Lorena, Kelly, Deirdre, Lee, Way Seah, Hajinicolaou, Christina, Lertudomphonwanit, Chatmanee, Fischer, Ryan, Bernabeu, Jesús Quintero, Quiros-Tejeira, Ruben E., Melere, Melina, Carvalho, Elisa, Eshun, John, Zellos, Aglaia, Dezsőfi, Antal, Pinto, Raquel Borges, Schwarz, Kathleen, Rogalidou, Maria, Garcia, Jennifer, Tamara, María Legarda, Beretta, Marisa, Mujawar, Quais, Santos-Silva, Ermelinda, Busoms, Cristina Molera, Lurz, Eberhard, Gonçalves, Cristina, Jimenez-Rivera, Carolina, Bañales, Jesús M., Shah, Uzma, Thompson, Richard, Hansen, Bettina, and Kamath, Binita M.
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- 2023
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22. Features of Nodules in Explants of Children Undergoing Liver Transplantation for Biliary Atresia
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Calinescu, Ana M., primary, Rougemont, Anne-Laure, additional, Anooshiravani, Mehrak, additional, Rock, Nathalie M., additional, McLin, Valerie A., additional, and Wildhaber, Barbara E., additional
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- 2022
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23. Congenital Hepatic Fibrosis, Caroli’s Disease, and Other Fibrocystic Liver Diseases
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Rock, Nathalie, primary, Kanavaki, Ino, additional, and McLin, Valérie, additional
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- 2015
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24. Case Report: Low Hematocrit Leading to Tacrolimus Toxicity
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Piletta-Zanin, Alexandre, primary, De Mul, Aurélie, additional, Rock, Nathalie, additional, Lescuyer, Pierre, additional, Samer, Caroline F., additional, and Rodieux, Frédérique, additional
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- 2021
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25. 6 - Preparation for Pediatric Liver Transplant: Medical Aspects
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Rock, Nathalie Marie and McLin, Valérie Anne
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- 2021
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26. Vitamin D Insufficiency Prior to Paediatric Liver Transplantation Is Associated with Early T-Cell Mediated Rejection
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Rock, Nathalie M., primary, Anghileri, Elisa, additional, Cousin, Vladimir L., additional, Petit, Laetitia-Marie, additional, and McLin, Valérie A., additional
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- 2021
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27. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency
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van Wessel, Daan B. E. Thompson, Richard J. Gonzales, Emmanuel and Jankowska, Irena Shneider, Benjamin L. Sokal, Etienne and Grammatikopoulos, Tassos Kadaristiana, Agustina Jacquemin, Emmanuel Spraul, Anne Lipinski, Patryk Czubkowski, Piotr and Rock, Nathalie Shagrani, Mohammad Broering, Dieter Algoufi, Talal Mazhar, Nejat Nicastro, Emanuele Kelly, Deirdre and Nebbia, Gabriella Arnell, Henrik Fischler, Bjorn Hulscher, Jan B. F. Serranti, Daniele Arikan, Cigdem Debray, Dominique and Lacaille, Florence Goncalves, Cristina Hierro, Loreto and Bartolo, Gema Munoz Mozer-Glassberg, Yael Azaz, Amer and Brecelj, Jernej Dezsofi, Antal Calvo, Pier Luigi and Krebs-Schmitt, Dorothee Hartleif, Steffen van der Woerd, Wendy L. Wang, Jian-She Li, Li-Ting Durmaz, Ozlem Kerkar, Nanda Jorgensen, Marianne Horby Fischer, Ryan and Jimenez-Rivera, Carolina Alam, Seema Cananzi, Mara and Laverdure, Noemie Ferreira, Cristina Targa Ordonez, Felipe and Wang, Heng Sency, Valerie Kim, Kyung Mo Chen, Huey-Ling and Carvalho, Elisa Fabre, Alexandre Bernabeu, Jesus Quintero and Alonso, Estella M. Sokol, Ronald J. Suchy, Frederick J. and Loomes, Kathleen M. McKiernan, Patrick J. Rosenthal, Philip and Turmelle, Yumirle Rao, Girish S. Horslen, Simon Kamath, Binita M. Rogalidou, Maria Karnsakul, Wikrom W. Hansen, Bettina Verkade, Henkjan J. Nat Course Prognosis PFIC Effect B
- Abstract
BACKGROUND AND AIMS: Mutations in ATPase phospholipid transporting 8B1 (ATP8B1) can lead to familial intrahepatic cholestasis type 1 (FIC1) deficiency, or progressive familial intrahepatic cholestasis type 1. The rarity of FIC1 deficiency has largely prevented a detailed analysis of its natural history, effects of predicted protein truncating mutations (PPTMs), and possible associations of serum bile acid (sBA) concentrations and surgical biliary diversion (SBD) with long-term outcome. We aimed to provide insights by using the largest genetically defined cohort of patients with FIC1 deficiency to date. APPROACH AND RESULTS: This multicenter, combined retrospective and prospective study included 130 patients with compound heterozygous or homozygous predicted pathogenic ATP8B1 variants. Patients were categorized according to the number of PPTMs (i.e., splice site, frameshift due to deletion or insertion, nonsense, duplication), FIC1-A (n = 67; no PPTMs), FIC1-B (n = 29; one PPTM), or FIC1-C (n = 34; two PPTMs). Survival analysis showed an overall native liver survival (NLS) of 44% at age 18 years. NLS was comparable among FIC1-A, FIC1-B, and FIC1-C (% NLS at age 10 years: 67%, 41%, and 59%, respectively; P = 0.12), despite FIC1-C undergoing SBD less often (% SBD at age 10 years: 65%, 57%, and 45%, respectively; P = 0.03). sBAs at presentation were negatively associated with NLS (NLS at age 10 years, sBAs < 194 mu mol/L: 49% vs. sBAs >= 194 mu mol/L: 15%; P = 0.03). SBD decreased sBAs (230 [125-282] to 74 [11-177] mu mol/L; P = 0.005). SBD (HR 0.55, 95% CI 0.28-1.03, P = 0.06) and post-SBD sBA concentrations < 65 mu mol/L (P = 0.05) tended to be associated with improved NLS. CONCLUSIONS: Less than half of patients with FIC1 deficiency reach adulthood with native liver. The number of PPTMs did not associate with the natural history or prognosis of FIC1 deficiency. sBA concentrations at initial presentation and after SBD provide limited prognostic information on long-term NLS.
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- 2021
28. THE PRESENCE OF A TRUNCATING MUTATION IN ABCB11 ABROGATES THE BENEFICIAL EFFECT OF A RESIDUAL FUNCTION MUTATION ON THE COURSE OF SEVERE BILE SALT EXPORT PUMP DEFICIENCY
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Felzen, Antonia, van Wessel, Daan, Thompson, Richard J., Gonzales, Emmanuel M., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipinski, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Bjorn, Hulscher, Jan, Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Bartolo, Gema Munoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsofi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, Van der Woerd, Wendy, Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Ozlem, Kerkar, Nanda, Jorgensen, Marianne Horby, Fischer, Ryan T., Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Ruiz, Mathias, Ferreira, Cristina Targa, Ferrero, Felipe Ordonez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick James, Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon P., Schwarz, Kathleen B., Bezerra, Jorge A., Wang, Kasper S., Hansen, Bettina E., Verkade, Henkjan J., and Center for Liver, Digestive and Metabolic Diseases (CLDM)
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- 2020
29. NATIVE LIVER SURVIVAL IN PATIENTS WITH FIC1 DEFICIENCY: IMPACT OF GENOTYPE, SERUM BILE ACID CONCENTRATIONS AND SURGICAL BILIARY DIVERSION
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van Wessel, Daan, Thompson, Richard J., Gonzales, Emmanuel M., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipinski, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriela, Arnell, Henrik, Fischler, Bjorn, Hulscher, Jan, Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Bartolo, Gema Munoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsofi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, Van der Woerd, Wendy, Wang, Jian-She, Li, Liting, Durmaz, Ozlem, Kerkar, Nanda, Jorgensen, Marianne Horby, Fischer, Ryan T., Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Verkade, Henkjan J., and Center for Liver, Digestive and Metabolic Diseases (CLDM)
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- 2020
30. Erythema Bullous Multiforme: A Complication of Mycoplasma pneumoniae Infection
- Author
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Rock, Nathalie, Belli, Dominique, and Bajwa, Nadia
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- 2014
- Full Text
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31. Reliable Detection of Intrapulmonary Shunts Using Contrast-Enhanced Echocardiography in Children With Portal Hypertension or Portosystemic Shunt
- Author
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Rock, Nathalie M., primary, Beghetti, Maurice, additional, Tissot, Cécile, additional, Willi, Jean-Pierre, additional, Bouhabib, Maya, additional, McLin, Valérie A., additional, and Maggio, Albane B.R., additional
- Published
- 2021
- Full Text
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32. Facteurs associés au développement des anémies hémolytiques après transplantation hépatique chez l'enfant
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Rock, Nathalie and Mclin, Valérie Anne
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Enfant ,Pédiatrie ,ddc:610 ,Hémolyse ,Anémie ,Transplantation hépatique - Abstract
L'anémie hémolytique post transplantation hépatique n'a été décrite que très rarement dans la littérature sous forme de descriptions de cas. Le but de ce travail est de présenter 7 cas d'hémolyse auto-immune apparus après transplantation dans une cohorte de 96 patients. A ce jour, c'est le plus grand nombre de cas rapportés dans la littérature avec une incidence de 8.5%. Deux différents types d'hémolyse sont définis : les précoces, en général de bon pronostic et s'autolimitant, et les tardives, plus sévères, répondant au Rituximab. Cette étude permet de décrire différents facteurs associés au développement de ces anémies : (1) l'âge et le diagnostic d'atrésie des voies biliaires ; (2) le développement d'infection précoce ou tardive dont l'infection à cytomégalovirus ; (3) l'utilisation de la solution de conservation du greffon IGF1. Ce travail aide à la compréhension des mécanismes de l'hémolyse ainsi qu'à la prise en charge des patients.
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- 2020
- Full Text
- View/download PDF
33. THU-289 - Analysis of long-term treatment effects of odevixibat on clinical outcomes in children with progressive familial intrahepatic cholestasis in odevixibat clinical studies vs external controls from the NAPPED database
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Hansen, Bettina, Valcheva, Velichka, Yu, Qifeng, van Wessel, Daan, Thompson, Richard, Gonzalès, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Kumar, Kishwer, Alkuraya, Fowzan, Sateesh, Meddirevula, Broering, Dieter Clemens, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Serranti, Daniele, Arıkan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Gonçalves, Cristina, Llanillo, Loreto Hierro, Bartolo, Gema Muñoz, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy L., Kamath, Binita M., Wang, Jian-She, Liting, Li, Durmaz, Ozlem, Önal, Zerrin, Felzen, Antonia, Nomden, Mark, Sonajalg, Jaak, Stein, Philip, Ni, Quanhong, Clemson, Christine, Mattsson, Jan, and Verkade, Henkjan J.
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- 2023
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34. The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium
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Felzen, Antonia, primary, van Wessel, Daan, additional, Thompson, Richard, additional, Gonzales, Emmanuel, additional, Jankowska, Irena, additional, Sokal, Etienne, additional, Grammatikopoulos, Tassos, additional, Kadaristiana, Agustina, additional, Jacquemin, Emmanuel, additional, Spraul, Anne, additional, Lipiński, Patryk, additional, Czubkowski, Piotr, additional, Rock, Nathalie, additional, Shagrani, Mohammad Ali, additional, Broering, Dieter Clemens, additional, Algoufi, Talal, additional, Mazhar, Nejat, additional, Nicastro, Emanuele, additional, Kelly, Deirdre, additional, Nebbia, Gabriella, additional, Arnell, Henrik, additional, Fischler, Björn, additional, Hulscher, JBF, additional, Serranti, Daniele, additional, Arıkan, Cigdem, additional, Polat, Esra, additional, Debray, Dominique, additional, Lacaille, Florence, additional, Gonçalves, Cristina, additional, Hierro, Loreto, additional, Bartolo, Gema Muñoz, additional, Glassberg, Yael Mozer, additional, Azaz, Amer, additional, Brecelj, Jernej, additional, Dezsőfi, Antal, additional, Calvo, Pier Luigi, additional, Grabhorn, Enke, additional, Sturm, Ekkehard, additional, van der Woerd, Wendy, additional, Kamath, Binita M., additional, Wang, Jian-She, additional, Liting, Li, additional, Durmaz, Ozlem, additional, Kerkar, Nanda, additional, Jørgensen, Marianne Hørby, additional, Fischer, Ryan, additional, Jimenez-Rivera, Carolina, additional, Alam, Seema, additional, Cananzi, Mara, additional, Ruiz, Mathias, additional, Targa, Cristina, additional, Ferrero, Felipe Ordoñez, additional, Wang, Heng, additional, Kim, Kyungmo, additional, Chen, Huey-Ling, additional, Carvalho, Elisa, additional, Hansen, Bettina, additional, and Verkade, Henkjan, additional
- Published
- 2020
- Full Text
- View/download PDF
35. Intrahepatic and extrahepatic congenital portosystemic shunts differ in in clinical presentation and outcomes in children
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McLin, Valerie A., Franchi-Abella, Stephanie, Debray, Dominique, Korff, Simona, Casotti, Valeria, Colledan, Michèle, d'Antiga, Lorenzo, de Ville de Goyet, Jean, Lurz, Eberhard, Stéphenne, Xavier, ROCK, Nathalie, The Liver Meeting AASLD (American Association of the Study of Liver Diseases), UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
- Published
- 2019
36. Congenital porto-systemic shunts in children: preliminary results from the IRCPSS
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McLin, Valérie, Franchi-Abella, S, Debray, D., Korff, S, Casotti V, Colledan, M, d'Antiga, L, de Ville de Goyet, J, Lurz, E., Stéphenne, Xavier, ROCK, Nathalie, 52nd Annual Meeting ESPGHAN (European Society for Pediatric Gastroenterology, Hepatology and Nutrition), UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
- Abstract
Objectives and Study: Our aim was to use data from patients followed by centers participating in the first International Registry for Congenital Porto-Systemic Shunts (IRCPSS) to identify trends that might inform therapeutic strategies according to shunt anatomy. Methods: Data were collected retrospectively (descriptive patient data, mode of presentation, complications, management). Intrahepatic (IH) was defined as porto-hepatic and extrahepatic (EH) as a porto-systemic communication occurring either upstream of the portal vein or originating at the portal vein. Persistent ductus venosus were considered EH. Results: 246 children were identified with either intrahepatic (IH) or extrahepatic shunts (EH): 122 IH and 120 EH. 3 patients had both IH and EH. 24% of all CPSS were identified pre-natally. Among patients diagnosed pre-natally, a majority had IH shunts (75%). 189 (76%) patients were diagnosed post-natally at a mean age of 39.1 mo (0-200) for IH and 61.9mo (0-192) for EH. IH and EH shunts were equally frequent when diagnosed after birth. IH shunts were more often an incidental finding. Among patients diagnosed post-natally, symptoms were equally frequent among patients with IH (57%) or EH (61%) CPSS and are summarized in Table 1. In addition, patients with EH CPSS were more likely to have several symptoms than patients with IH CPSS. They were also more likely to have liver nodules on imaging (40.7% vs 26%). Closure: 184 children with CPSS were closed including 11 patients with 2 steps closure. Among these 184 patients 54 % of IH CPSS and 5% of EH CPSS closed spontaneously. 46% of IH CPSS required medical or surgical closure of which nearly 40% for a preventive indication. 94% of patients with EH CPSS were closed through a procedure, of which 41% were preventive. Conclusion: IH and EH shunts were equally frequent in this multicenter retrospective cohort of CPSS in children. CPSS are a cause of severe symptoms in children and should be sought in infants with hypoglycemia or cholestasis. In older children, they should be considered in the differential diagnosis of liver nodules, cardiopulmonary symptoms or neurocognitive deficits. Given the potential severity of complications, preventative closure was often performed, although timing and approach need further study, something which the IRCPSS aims to address.
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- 2019
37. Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome
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ROCK, Nathalie, Demaret, T, Stephenne, Xavier, Scheers, Isabelle, Smets, Françoise, McLin, V, Boschi, Antonella, Sokal, Etienne, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, and UCL - (SLuc) Service d'ophtalmologie
- Subjects
and Child Health ,Gastroenterology ,Pediatrics ,Perinatology - Abstract
Objectives and Study: Ophthalmic abnormalities are amongst the 5 major criteria for diagnosing autosomal dominant Alagille syndrome (AS), of which embryotoxon, pseudo-papilledema (PPO), and pigmentary retinopathy are the most common. Papilledema (PO), with or without intracranial hypertension (ICHT)/pseudotumor cerebri syndrome (PTCS), are rarely described. We here report 9 cases of bilateral PO in an AS cohort, 5 of whom were diagnosed with PTCS that occurred after liver transplantation. Methods: We reviewed ophthalmologic examination data from 85 pediatric patients with clinically (n = 48) and/or genetically (n = 37) proven AS, who were followed in 2 referral hospitals (UCL St Luc Brussels, n = 75; HUG Geneva, n = 10). Patients who received liver transplantation (LT) (n = 40) were compared with pediatric patients (n = 40) with LT for indications other than AS. Results: Sixty-nine patients fulfilled the inclusion criteria; the PO incidence in this cohort was 13% (9/69, 13%). Forty of these patients (40/69, 58%) underwent LT, of whom 2 developed true PO before LT and 6 developed PO after LT (6/40, 15%). One non-LT child (1/28, 3%) had PO, but had a normal neurological examination and rapid resolution. PO resolved spontaneously or remained stable without complications in 4 patients (2 with pre-transplant onset) (4/69, 6%). The remaining 5 patients had a normal neurological examination and cerebral magnetic resonance imaging findings (5/69, 7%). Probable PTCS was diagnosed in 1 patient and definite PCTS was diagnosed in 4 patients. PTCS was treated with steroids alone in 1 patient, and in combination with acetazolamide in 2 patients. In 2 of these 3 patients, ventriculo-peritoneal derivation was ultimately required for severe progressive visual loss. PPO was present in 10 other (10/69, 10%). One patient in the non-AS cohort had PO, yielding an incidence of 2.5% (1/40). Conclusions: True PTCS may be underdiagnosed in AS, but should be considered as a feature of this syndrome. Our findings supports the necessity of close follow-up of ophthalmologic complications before and/or after LT, because of the risk of severe and irreversible loss of vision.
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- 2019
38. Intrahepatic and extrahepatic congenital portosystemic shunts differ in in clinical presentation and outcomes in children
- Author
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UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, McLin, Valerie A., Franchi-Abella, Stephanie, Debray, Dominique, Korff, Simona, Casotti, Valeria, Colledan, Michèle, d'Antiga, Lorenzo, de Ville de Goyet, Jean, Lurz, Eberhard, Stéphenne, Xavier, ROCK, Nathalie, The Liver Meeting AASLD (American Association of the Study of Liver Diseases), UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, McLin, Valerie A., Franchi-Abella, Stephanie, Debray, Dominique, Korff, Simona, Casotti, Valeria, Colledan, Michèle, d'Antiga, Lorenzo, de Ville de Goyet, Jean, Lurz, Eberhard, Stéphenne, Xavier, ROCK, Nathalie, and The Liver Meeting AASLD (American Association of the Study of Liver Diseases)
- Published
- 2019
39. Congenital porto-systemic shunts in children: preliminary results from the IRCPSS
- Author
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UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, McLin, V., Franchi-Abella, S, Debray, D., Korff, S., Casotti, V., Colledan, M., d'Antiga, L., de Ville de Goyet, J., Lurz, E., Stéphenne, Xavier, ROCK, Nathalie, Hierro, L., Kanavaki, A., Lipsich, J., Lopez-Santamaria, M., Magnusson, M., Mozer-Glassberg, Y., Ponce, M.D., Prieto, C., Ugurcan, O.D., Varma, S., Guerin, F., Pop,T., Wildhaber, B., Gonzales, E., The International Liver Congress (EASL), UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, McLin, V., Franchi-Abella, S, Debray, D., Korff, S., Casotti, V., Colledan, M., d'Antiga, L., de Ville de Goyet, J., Lurz, E., Stéphenne, Xavier, ROCK, Nathalie, Hierro, L., Kanavaki, A., Lipsich, J., Lopez-Santamaria, M., Magnusson, M., Mozer-Glassberg, Y., Ponce, M.D., Prieto, C., Ugurcan, O.D., Varma, S., Guerin, F., Pop,T., Wildhaber, B., Gonzales, E., and The International Liver Congress (EASL)
- Abstract
Background: • Congenital portosystemic shunts (CPSS) are increasingly diagnosed in children and adults owing to high resolution imaging. • Their natural history is incompletely understood. • CPSS may be associated with life-threatening complications. • There are no established predictors of spontaneous closure. •Among patients in whom CPSS does not close spontaneously, is unclear which patients will develop complications, consequently which shunts require closure. Aim: To use preliminary data from 15/28 centers participating in the International Registry for Congenital Porto-Systemic Shunts (IRCPSS) to identify trends that might inform management decisions
- Published
- 2019
40. Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome
- Author
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UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - (SLuc) Service d'ophtalmologie, ROCK, Nathalie, Demaret, T, Stephenne, Xavier, Scheers, Isabelle, Smets, Françoise, McLin, V, Boschi, Antonella, Sokal, Etienne, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - (SLuc) Service d'ophtalmologie, ROCK, Nathalie, Demaret, T, Stephenne, Xavier, Scheers, Isabelle, Smets, Françoise, McLin, V, Boschi, Antonella, and Sokal, Etienne
- Abstract
Objectives and Study: Ophthalmic abnormalities are amongst the 5 major criteria for diagnosing autosomal dominant Alagille syndrome (AS), of which embryotoxon, pseudo-papilledema (PPO), and pigmentary retinopathy are the most common. Papilledema (PO), with or without intracranial hypertension (ICHT)/pseudotumor cerebri syndrome (PTCS), are rarely described. We here report 9 cases of bilateral PO in an AS cohort, 5 of whom were diagnosed with PTCS that occurred after liver transplantation. Methods: We reviewed ophthalmologic examination data from 85 pediatric patients with clinically (n = 48) and/or genetically (n = 37) proven AS, who were followed in 2 referral hospitals (UCL St Luc Brussels, n = 75; HUG Geneva, n = 10). Patients who received liver transplantation (LT) (n = 40) were compared with pediatric patients (n = 40) with LT for indications other than AS. Results: Sixty-nine patients fulfilled the inclusion criteria; the PO incidence in this cohort was 13% (9/69, 13%). Forty of these patients (40/69, 58%) underwent LT, of whom 2 developed true PO before LT and 6 developed PO after LT (6/40, 15%). One non-LT child (1/28, 3%) had PO, but had a normal neurological examination and rapid resolution. PO resolved spontaneously or remained stable without complications in 4 patients (2 with pre-transplant onset) (4/69, 6%). The remaining 5 patients had a normal neurological examination and cerebral magnetic resonance imaging findings (5/69, 7%). Probable PTCS was diagnosed in 1 patient and definite PCTS was diagnosed in 4 patients. PTCS was treated with steroids alone in 1 patient, and in combination with acetazolamide in 2 patients. In 2 of these 3 patients, ventriculo-peritoneal derivation was ultimately required for severe progressive visual loss. PPO was present in 10 other (10/69, 10%). One patient in the non-AS cohort had PO, yielding an incidence of 2.5% (1/40). Conclusions: True PTCS may be underdiagnosed in AS, but should be considered as a feature of this sy
- Published
- 2019
41. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
- Author
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van Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, and Nebbia, Gabriella
- Published
- 2021
- Full Text
- View/download PDF
42. Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome
- Author
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ROCK, Nathalie, Demaret, Tanguy, Stéphenne, Xavier, Scheers, Isabelle, Smets, Françoise, McLin, Valérie, Boschi, Antonella, Sokal, Etienne, AASLD Liver Meeting, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - (MGD) Service d'ophtalmologie, and UCL - SSS/IONS/NEUR - Clinical Neuroscience
- Subjects
eye diseases - Abstract
Background Ophthalmic abnormalities are amongst the 5 major criteria for diagnosing autosomal dominant Alagille Syndrome (AS). Embryotoxon, pseudo-papilledema and pigmentary retinopathy being most frequently part of the syndrome. Papilledema with or without intracranial hypertension (ICHT) are rarely described. We report 9 cases of bilateral papilloedema, 4 associated to ICHT at lumbar puncture (LP) , all being diagnosed idiopathic ICHT in children with AS. Methods We reviewed ophthalmologic examination data from 85 pediatric patients with clinically (n=48) and/or genetically (n=37) proven AS followed in two referring hospitals (UCL St Luc Brussels, n=75; HUG Geneva n=10). Patients were included if data were available before and after liver transplantation (LT). Results 69 patients fulfilled inclusions criteria. 41 patients (41/69, 59%) of this group had LT of whom 2 developed true papilloedema before LT and 6 after LT (6/41, 14%). One papilloedema, but normal neurologic exam and rapid resolution was found in a non-transplanted child (1/28, 3%). Papilloedema resolved spontaneously in 4 patients (2 with pre-transplant onset) (4/69, 6%). In a fifth patient, severe papilloedema without documented ICHT (normal LP) resolved after switching tacrolimus to cyclosporine and adding acetazolamide. In only 4 remaining patients; the ICHT was revealed at LP. In all patients normal neurological exam and cerebral MRI were reported (4/69, 6%). ICHT was treated by steroids alone in one patient, and in the 3 others patients in combination with acetazolamide and a switch from tacrolimus to cyclosporine. Among these 3 patients, ventriculo-peritoneal derivation was ultimately required in 2 for severe progressive visual loss. We detected pseudo-papilloedema in 7 additional children (7/69, 10%); which was persistent and unchanged after LT in n=4. Conclusion Besides pseudopapilloedema, true papilloedema with or without proven ICHT in a context of AS occurs in probably more patients than expected. A close follow-up of ophthalmologic complications should be implemented for these patients before and/or after LT because the risk of severe and irreversible visual loss.
- Published
- 2018
43. FRI-436-Congenital porto-systemic shunts in children: Preliminary results from the IRCPSS
- Author
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McLin, Valérie, primary, Franchi-Abella, Stéphanie, additional, Debray, Dominique, additional, Korff, Simona, additional, Casotti, Valeria, additional, Colledan, Michele, additional, D’Antiga, Lorenzo, additional, Goyet, Jean De Ville De, additional, Durmaz, Ozlem, additional, Lurz, Ebehard, additional, Hierro, Loreto, additional, Kanavaki, Ino, additional, Lipsich, José, additional, Lopez-Santamaria, Maria, additional, Maria, Magnusson, additional, Mozer-Glassberg, Yael, additional, Ponce, Md, additional, Pop, Tudor, additional, Prieto, Cr, additional, Rock, Nathalie, additional, Stephenne, Xavier, additional, Varma, Sharat, additional, Wildhaber, Barbara, additional, Guerin, Florent, additional, and Gonzales, Emmanuel, additional
- Published
- 2019
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- View/download PDF
44. Intracranial hypertension and papilledema in a large cohort of pediatric Alagille syndrome
- Author
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UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - (MGD) Service d'ophtalmologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, ROCK, Nathalie, Demaret, Tanguy, Stéphenne, Xavier, Scheers, Isabelle, Smets, Françoise, McLin, Valérie, Boschi, Antonella, Sokal, Etienne, AASLD Liver Meeting, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique, UCL - (MGD) Service d'ophtalmologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, ROCK, Nathalie, Demaret, Tanguy, Stéphenne, Xavier, Scheers, Isabelle, Smets, Françoise, McLin, Valérie, Boschi, Antonella, Sokal, Etienne, and AASLD Liver Meeting
- Abstract
Background Ophthalmic abnormalities are amongst the 5 major criteria for diagnosing autosomal dominant Alagille Syndrome (AS). Embryotoxon, pseudo-papilledema and pigmentary retinopathy being most frequently part of the syndrome. Papilledema with or without intracranial hypertension (ICHT) are rarely described. We report 9 cases of bilateral papilloedema, 4 associated to ICHT at lumbar puncture (LP) , all being diagnosed idiopathic ICHT in children with AS. Methods We reviewed ophthalmologic examination data from 85 pediatric patients with clinically (n=48) and/or genetically (n=37) proven AS followed in two referring hospitals (UCL St Luc Brussels, n=75; HUG Geneva n=10). Patients were included if data were available before and after liver transplantation (LT). Results 69 patients fulfilled inclusions criteria. 41 patients (41/69, 59%) of this group had LT of whom 2 developed true papilloedema before LT and 6 after LT (6/41, 14%). One papilloedema, but normal neurologic exam and rapid resolution was found in a non-transplanted child (1/28, 3%). Papilloedema resolved spontaneously in 4 patients (2 with pre-transplant onset) (4/69, 6%). In a fifth patient, severe papilloedema without documented ICHT (normal LP) resolved after switching tacrolimus to cyclosporine and adding acetazolamide. In only 4 remaining patients; the ICHT was revealed at LP. In all patients normal neurological exam and cerebral MRI were reported (4/69, 6%). ICHT was treated by steroids alone in one patient, and in the 3 others patients in combination with acetazolamide and a switch from tacrolimus to cyclosporine. Among these 3 patients, ventriculo-peritoneal derivation was ultimately required in 2 for severe progressive visual loss. We detected pseudo-papilloedema in 7 additional children (7/69, 10%); which was persistent and unchanged after LT in n=4. Conclusion Besides pseudopapilloedema, true papilloedema with or without proven ICHT in a context of AS occurs in probably more patients than exp
- Published
- 2018
45. Factors associated with immune hemolytic anemia after pediatric liver transplantation
- Author
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Rock, Nathalie, primary, Ansari, Marc, additional, Villard, Jean, additional, Ferrari-Lacraz, Sylvie, additional, Waldvogel, Sophie, additional, and McLin, Valérie Anne, additional
- Published
- 2018
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46. “Late” Withdrawal Syndrome after Carbamazepine In Utero Exposure in a CYP2C9 Slow Metabolizer Newborn
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Passia, Evangelia, primary, Rock, Nathalie, additional, Pfister, Riccardo E., additional, Ing Lorenzini, Kuntheavy R., additional, Desmeules, Jules, additional, and Samer, Caroline F., additional
- Published
- 2017
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47. Treatment of an Acute Promyelocytic Leukemia Relapse Using Arsenic Trioxide and All-Trans-Retinoic in a 6-Year-Old Child
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Rock, Nathalie, primary, Mattiello, V., additional, Judas, C., additional, Huezo-Diaz, P., additional, Bourquin, J.P., additional, Gumy-Pause, F., additional, and Ansari, M., additional
- Published
- 2014
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48. Genotype correlates with the natural history of severe bile salt export pump deficiency
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van Wessel, Daan B E, Thompson, Richard J, Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre A, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B F, Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Sturm, Ekkehard, van der Woerd, Wendy J, Kamath, Binita M, Wang, Jian-She, Li, Liting, Durmaz, Özlem, Onal, Zerrin, Bunt, Ton M G, Hansen, Bettina E, Verkade, Henkjan J, NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium, Center for Liver, Digestive and Metabolic Diseases (CLDM), Lifestyle Medicine (LM), UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique
- Subjects
0301 basic medicine ,Male ,LIVER ,Surgical biliary diversion ,CHILDREN ,Gastroenterology ,Severity of Illness Index ,PFIC2 ,Liver disease ,0302 clinical medicine ,Genotype ,ABCB11 ,ATP Binding Cassette Transporter, Subfamily B, Member 11 ,OUTCOMES ,ddc:618 ,Bile acid ,Liver Neoplasms ,Prognosis ,Biliary Tract Surgical Procedures ,BSEP ,Child, Preschool ,Cohort ,SURGICAL-MANAGEMENT ,030211 gastroenterology & hepatology ,Female ,EXPRESSION ,Adult ,medicine.medical_specialty ,Carcinoma, Hepatocellular ,medicine.drug_class ,Natural history ,Cholestasis, Intrahepatic ,Time ,Bile Acids and Salts ,03 medical and health sciences ,TYPE-2 ,FAMILIAL INTRAHEPATIC CHOLESTASIS ,Cholestasis ,Predictive Value of Tests ,Internal medicine ,medicine ,ABCB11 MUTATIONS ,Humans ,Genetic Testing ,EXTERNAL BILIARY DIVERSION ,Severe BSEP deficiency ,Retrospective Studies ,Hepatology ,business.industry ,Retrospective cohort study ,medicine.disease ,Bile Salt Export Pump ,Survival Analysis ,030104 developmental biology ,Mutation ,business - Abstract
Background & Aims: Mutations in ABCB11 can cause deficiency of the bile salt export pump (BSEP), leading to cholestasis and end-stage liver disease. Owing to the rarity of the disease, the associations between genotype and natural history, or outcomes following surgical biliary diversion (SBD), remain elusive. We aimed to determine these associations by assembling the largest genetically defined cohort of patients with severe BSEP deficiency to date. Methods: This multicentre, retrospective cohort study included 264 patients with homozygous or compound heterozygous pathological ABCB11 mutations. Patients were categorized according to genotypic severity (BSEP1, BSEP2, BSEP3). The predicted residual BSEP transport function decreased with each category. Results: Genotype severity was strongly associated with native liver survival (NLS, BSEP1 median 20.4 years; BSEP2, 7.0 years; BSEP3, 3.5 years; p
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49. FRI276 - The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium.
- Author
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Felzen, Antonia, van Wessel, Daan, Thompson, Richard, Gonzales, Emmanuel, Jankowska, Irena, Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad Ali, Broering, Dieter Clemens, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, and Nebbia, Gabriella
- Subjects
- *
CONSORTIA , *PHENOTYPES - Published
- 2020
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50. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.
- Author
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Hansen BE, Vandriel SM, Vig P, Garner W, Mogul DB, Loomes KM, Piccoli DA, Rand EB, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, D'Antiga L, Nicastro E, Arnell H, Fischler B, Sokal É, Demaret T, Siew S, Stormon M, Karpen SJ, Romero R, Ebel NH, Feinstein JA, Roberts AJ, Evans HM, Sundaram SS, Chaidez A, Hardikar W, Shankar S, Fischer RT, Lacaille F, Debray D, Lin HC, Jensen MK, Jaramillo C, Karthikeyan P, Indolfi G, Verkade HJ, Larson-Nath C, Quiros-Tejeira RE, Valentino PL, Rogalidou M, Dezsőfi A, Squires JE, Schwarz K, Calvo PL, Bernabeu JQ, Zizzo AN, Nebbia G, Bulut P, Santos-Silva E, Fawaz R, Nastasio S, Karnsakul W, Tamara ML, Busoms CM, Kelly DA, Sandahl TD, Jimenez-Rivera C, Banales JM, Mujawar Q, Li LT, She H, Wang JS, Kim KM, Oh SH, Sanchez MC, Cavalieri ML, Lee WS, Hajinicolaou C, Lertudomphonwanit C, Waisbourd-Zinman O, Arikan C, Alam S, Carvalho E, Melere M, Eshun J, Önal Z, Desai DM, Wiecek S, Pinto RB, Wolters VM, Garcia J, Beretta M, Kerkar N, Brecelj J, Rock N, Lurz E, Blondet N, Shah U, Thompson RJ, and Kamath BM
- Subjects
- Humans, Female, Male, Retrospective Studies, Child, Infant, Child, Preschool, Progression-Free Survival, Adolescent, Carrier Proteins, Membrane Glycoproteins, Alagille Syndrome complications, Alagille Syndrome drug therapy
- Abstract
Background and Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study., Approach and Results: Maralixibat trials comprise 84 patients with ALGS with up to 6 years of treatment. GALA contains retrospective data from 1438 participants. GALA was filtered to align with key maralixibat eligibility criteria, yielding 469 participants. Serum bile acids could not be included in the GALA filtering criteria as these are not routinely performed in clinical practice. Index time was determined through maximum likelihood estimation in an effort to align the disease severity between the two cohorts with the initiation of maralixibat. Event-free survival, defined as the time to first event of manifestations of portal hypertension (variceal bleeding, ascites requiring therapy), surgical biliary diversion, liver transplant, or death, was analyzed by Cox proportional hazards methods. Sensitivity analyses and adjustments for covariates were applied. Age, total bilirubin, gamma-glutamyl transferase, and alanine aminotransferase were balanced between groups with no statistical differences. Event-free survival in the maralixibat cohort was significantly better than the GALA cohort (HR, 0.305; 95% CI, 0.189-0.491; p <0.0001). Multiple sensitivity and subgroup analyses (including serum bile acid availability) showed similar findings., Conclusions: This study demonstrates a novel application of a robust statistical method to evaluate outcomes in long-term intervention studies where placebo comparisons are not feasible, providing wide application for rare diseases. This comparison with real-world natural history data suggests that maralixibat improves event-free survival in patients with ALGS., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.)
- Published
- 2024
- Full Text
- View/download PDF
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