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2. Pediatric ANCA vasculitis: clinical presentation, treatment, and outcomes in a French retrospective study

Author

Mahi, Sarah-louisa, Bahram, Siamak, Harambat, Jérôme, Allard, Lise, Merlin, Etienne, Belot, Alexandre, Ranchin, Bruno, Tenenbaum, Julie, Magnavacca, Marie, Haumesser, Lucile, Allain-Launay, Emma, Pietrement, Christine, Flodrops, Hugues, Ruin, Mahe, Dossier, Claire, Decramer, Stéphane, Ballot-Schmitt, Claire, Boyer, Olivia Gillion, Seugé, Laure, Ulinski, Tim, and Zaloszyc, Ariane

Published
2023
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4. School level of children carrying a HNF1B variant or a deletion

Author

Laliève, Fanny, Decramer, Stéphane, Heidet, Laurence, Baudouin, Véronique, Lahoche, Annie, Llanas, Brigitte, Cochat, Pierre, Tenenbaum, Julie, Lavocat, Marie-Pierre, Eckart, Philippe, Broux, Françoise, Roussey, Gwenaelle, Cloarec, Sylvie, Vrillon, Isabelle, Dunand, Olivier, Bessenay, Lucie, Tsimaratos, Michel, Nobili, François, Pietrement, Christine, De Parscau, Loïc, Bonneville, Valérie, Rodier, Nicolas, Saint-Martin, Cécile, Chassaing, Nicolas, Michel-Calemard, Laurence, Moriniere, Vincent, Bellanné-Chantelot, Christine, Bahans, Claire, and Guigonis, Vincent

Published
2020
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6. The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design

Author

Buffin-Meyer, Bénédicte, Klein, Julie, van der Zanden, Loes F M, Levtchenko, Elena, Moulos, Panogiotis, Lounis, Nadia, Conte-Auriol, Françoise, Hindryckx, An, Wühl, Elke, Persico, Nicola, Oepkes, Dick, Schreuder, Michiel F, Tkaczyk, Marcin, Ariceta, Gema, Fossum, Magdalena, Parvex, Paloma, Feitz, Wout, Olsen, Henning, Montini, Giovanni, Decramer, Stéphane, Schanstra, Joost P, De Catte, Luc, Vayssieres, Christophe, Sartor, Agnès, Groussolles, Marion, Plard, Christelle, Guerby, Paul, Connan, Laure, Morin, Mathieu, Simon, Elizabeth, Breaud, Jean, Saliou, Anne-Hélène, De Parscau, Loic, Jay, Nadine, Germouty, Isabelle, Le Bouar, Gwenaelle, Ryckewaert, Amelie, Manca-Pellissier, Marie-Christine, Merrot, Thierry, Laurichesse, Helene, Gallot, Denis, Bessenay, Lucie, Bidat, Laurent, Boize, Philippe, Winer, Norbert, Allain-Launey, Emma, Le Vaillant, Claudine, Prieur, Fabienne, Lavocat, Marie-Pierre, Coatleven, Frederic, Debromez, Eric, Harembat, Jérôme, Llanas, Brigitte, Favre, Romain, Moog, Raphael, Zaloszyc, Ariane, Massardier, Jérôme, Demede, Delphine, Perrotin, Franck, Cloarec, Sylvie, Vequeau-Goua, Valérie, Descombes, Emmanuelle, Boulot, Pierre, Morin, Denis, Fuchs, Florent, Tenenbaum, Julie, Ville, Yves, Blanc, Thomas, Heidet, Laurence, Paris, Anne, Dobremez, Eric, Froute, Marie-Françoise, Gondry, Jean, Muszynski, Charles, Haraux, Elodie, Lobelle, Fabienne, Chevreau, Julien, Rosenblatt, Jonathan, Baudoin, Véronique, Deschenes, Georges, Guigue, Virginie, Amblard, Florence, Bourdat-Michel, Guylhène, Schaefer, Franz, Elsässer, Michael, Rossi, Federica, Manzoni, Gianantonio, De Marco, Erika A, Capone, Valentina, Caforio, Leonardo, Zaccara, Antonio, Innocenzi, Michele, Bagolan, Pietro, Capozza, Nicola, Castagnetti, Marco, Mancini, Mariangela, van Scheltema, Phebe Adama, Kortmann, Barbara, Schreuder, Michiel, Stańczyk, Małgorzata, Szaflik, Krzysztof, Wojtera, Justyna, Krzeszowski, Waldemar, Talar, Tomasz, Pawłowska, Barbara, Fortecka-Piestrzeniewicz, Katarzyna, Olejniczak, Dariusz, Arevalo, Silvia, Rodo, Carlota, Lindgren, Peter, Chehade, Hassib, ANTENATAL Consortium, Hindryckx, A., De Catte, L., Vayssieres, C., Sartor, A., Groussolles, M., Plard, C., Guerby, P., Connan, L., Morin, M., Simon, E., Breaud, J., Saliou, A.H., De Parscau, L., Jay, N., Germouty, I., Le Bouar, G., Ryckewaert, A., Manca-Pellissier, M.C., Merrot, T., Laurichesse, H., Gallot, D., Bessenay, L., Bidat, L., Boize, P., Winer, N., Allain-Launey, E., Le Vaillant, C., Prieur, F., Lavocat, M.P., Coatleven, F., Debromez, E., Harembat, J., Llanas, B., Favre, R., Moog, R., Zaloszyc, A., Massardier, J., Demede, D., Perrotin, F., Cloarec, S., Vequeau-Goua, V., Descombes, E., Boulot, P., Morin, D., Fuchs, F., Tenenbaum, J., Ville, Y., Blanc, T., Heidet, L., Paris, A., Dobremez, E., Froute, M.F., Gondry, J., Muszynski, C., Haraux, E., Lobelle, F., Chevreau, J., Rosenblatt, J., Baudoin, V., Deschenes, G., Guigue, V., Amblard, F., Bourdat-Michel, G., Wühl, E., Schaefer, F., Elsässer, M., Persico, N., Rossi, F., Manzoni, G., De Marco, E.A., Montini, G., Capone, V., Caforio, L., Zaccara, A., Innocenzi, M., Bagolan, P., Capozza, N., Castagnetti, M., Mancini, M., Oepkes, D., van Scheltema, P.A., Feitz, W., Kortmann, B., Schreuder, M., Tkaczyk, M., Stańczyk, M., Szaflik, K., Wojtera, J., Krzeszowski, W., Talar, T., Pawłowska, B., Fortecka-Piestrzeniewicz, K., Olejniczak, D., Ariceta, G., Arevalo, S., Rodo, C., Fossum, M., Lindgren, P., Parvex, P., Chehade, H., Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Radboud University Medical Center [Nijmegen], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), HybridStat Predictive Analytics [Athens, Greece], Centre d'investigation clinique de Toulouse (CIC 1436), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), University Hospitals Leuven [Leuven], Heidelberg University Hospital [Heidelberg], University of Milan, Fondazione IRCCS Ca’ Granda – Ospedale Maggiore Policlinico [Milan, Italy], Leiden University Medical Center (LUMC), Radboud Institute for Molecular Life Sciences [Nijmegen, the Netherlands], Polish Mother’s Memorial Hospital Research Institute [Lodz] (ICZMP), Pediatric Nephrology [Barcelona, Spain] (Vall d’Hebron Hospital), Universitat Autònoma de Barcelona (UAB)-Vall d'Hebron University Hospital [Barcelona], Karolinska University Hospital [Stockholm], Karolinska Institutet [Stockholm], Geneva University Hospital (HUG), Aarhus University Hospital, Aarhus University [Aarhus], Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, ANTENATAL Consortium: An Hindryckx, Luc De Catte, Christophe Vayssieres, Agnès Sartor, Marion Groussolles, Christelle Plard, Paul Guerby, Laure Connan, Mathieu Morin, Elizabeth Simon, Jean Breaud, Anne-Hélène Saliou, Loic De Parscau, Nadine Jay, Isabelle Germouty, Gwenaelle Le Bouar, Amelie Ryckewaert, Marie-Christine Manca-Pellissier, Thierry Merrot, Helene Laurichesse, Denis Gallot, Lucie Bessenay, Laurent Bidat, Philippe Boize, Norbert Winer, Emma Allain-Launey, Claudine Le Vaillant, Fabienne Prieur, Marie-Pierre Lavocat, Frederic Coatleven, Eric Debromez, Jérôme Harembat, Brigitte Llanas, Romain Favre, Raphael Moog, Ariane Zaloszyc, Jérôme Massardier, Delphine Demede, Franck Perrotin, Sylvie Cloarec, Valérie Vequeau-Goua, Emmanuelle Descombes, Pierre Boulot, Denis Morin, Florent Fuchs, Julie Tenenbaum, Yves Ville, Thomas Blanc, Laurence Heidet, Anne Paris, Eric Dobremez, Marie-Françoise Froute, Jean Gondry, Charles Muszynski, Elodie Haraux, Fabienne Lobelle, Julien Chevreau, Jonathan Rosenblatt, Véronique Baudoin, Georges Deschenes, Virginie Guigue, Florence Amblard, Guylhène Bourdat-Michel, Elke Wühl, Franz Schaefer, Michael Elsässer, Nicola Persico, Federica Rossi, Gianantonio Manzoni, Erika A De Marco, Giovanni Montini, Valentina Capone, Leonardo Caforio, Antonio Zaccara, Michele Innocenzi, Pietro Bagolan, Nicola Capozza, Marco Castagnetti, Mariangela Mancini, Dick Oepkes, Phebe Adama van Scheltema, Wout Feitz, Barbara Kortmann, Michiel Schreuder, Marcin Tkaczyk, Małgorzata Stańczyk, Krzysztof Szaflik, Justyna Wojtera, Waldemar Krzeszowski, Tomasz Talar, Barbara Pawłowska, Katarzyna Fortecka-Piestrzeniewicz, Dariusz Olejniczak, Gema Ariceta, Silvia Arevalo, Carlota Rodo, Magdalena Fossum, Peter Lindgren, Paloma Parvex, Hassib Chehade., Schanstra, Joost, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Pôle Santé publique et médecine publique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), and Università degli Studi di Milano = University of Milan (UNIMI)

Subjects
Posterior urethral valve, medicine.medical_specialty, Urinary system, [SDV]Life Sciences [q-bio], kidney disease, prenatal biomarkers, Renal function, Prenatal care, 030204 cardiovascular system & hematology, DIAGNOSIS, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Medicine, obstructive uropathy, Obstructive uropathy, development, 030304 developmental biology, RISK, 0303 health sciences, Transplantation, Kidney, ddc:618, Science & Technology, business.industry, Obstetrics, Original Articles, prediction, Urology & Nephrology, Omics, medicine.disease, 6. Clean water, 3. Good health, [SDV] Life Sciences [q-bio], Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], medicine.anatomical_structure, Nephrology, embryonic structures, Settore MED/20, URINARY-TRACT OBSTRUCTION, Renal disorders Radboud Institute for Health Sciences [Radboudumc 11], business, Life Sciences & Biomedicine, Kidney disease
Abstract

Altres ajuts: The study is partially made possible by support of the 'Programme Hospitalier de Recherche Clinique and 'La Foundation de la Recherche Médicale (grant number DEQ20170336759, France). M.T. was supported by the Polish Mothers Memorial Hospital Research Institute (internal grant number 2016/IV/54-GW. LvdZ is supported by a Kolff grant from the Dutch Kidney Foundation (13OKJ36) and a ZonMW-VENI grant from the Netherlands Organisation for Scientific Research (91618036). This project has been supported by ERN ERKNet and ERN eUROGEN, which are partly co-funded by the European Union within the framework of the Third Health Programme 'ERN-2016-Framework Partnership Agreement 2017-2021'. Posterior urethral valves (PUV) account for 17% of paediatric end-stage renal disease. A major issue in the management of PUV is prenatal prediction of postnatal renal function. Fetal ultrasound and fetal urine biochemistry are currently employed for this prediction, but clearly lack precision. We previously developed a fetal urine peptide signature that predicted in utero with high precision postnatal renal function in fetuses with PUV. We describe here the objectives and design of the prospective international multicentre ANTENATAL (multicentre validation of a fetal urine peptidome-based classifier to predict postnatal renal function in posterior urethral valves) study, set up to validate this fetal urine peptide signature. Participants will be PUV pregnancies enrolled from 2017 to 2021 and followed up until 2023 in >30 European centres endorsed and supported by European reference networks for rare urological disorders (ERN eUROGEN) and rare kidney diseases (ERN ERKNet). The endpoint will be renal/patient survival at 2 years postnatally. Assuming α = 0.05, 1-β = 0.8 and a mean prevalence of severe renal outcome in PUV individuals of 0.35, 400 patients need to be enrolled to validate the previously reported sensitivity and specificity of the peptide signature. In this largest multicentre study of antenatally detected PUV, we anticipate bringing a novel tool to the clinic. Based on urinary peptides and potentially amended in the future with additional omics traits, this tool will be able to precisely quantify postnatal renal survival in PUV pregnancies. The main limitation of the employed approach is the need for specialized equipment. Accurate risk assessment in the prenatal period should strongly improve the management of fetuses with PUV.

Published
2020

7. Blockade of the kallikrein-kinin system reduces endothelial complement activation in vascular inflammation

Author

Davalieva, Katarina, Makridakis, Manousos, Vlahou, Antonia, Frantzi, Maria, Boizard, Franck, Moussaoui, Nabila, Lescat, Ophélie, Fedou, Camille, Feuillet, Guylène, Casemayou, Audrey, Neau, Eric, Decatte, Luc, Raaijmakers, Anke, Vayssière, Christophe, Goua, Valérie, Lucas, Charlotte, Benachi, Alexandra, Delmas, Hélène Laurichesse, Allain-Launay, Emma, Boudailliez, Bernard, Simon, Elisabeth, Noel, Catherine, Floch, Corinne, Bourdat-Michel, Guylène, Weingertner, Anne-Sophie, Oury, Jean-François, Baudouin, Véronique, Bory, Jean-Paul, Pietrement, Christine, Fiorenza, Maryse, Kessler, Sylvie, Auriol, Françoise Conte, Marcorelles, Pascale, Collardeau-Frachon, Sophie, Magalhães, Pedro, Batut, Julie, Blader, Patrick, Saulnier Blache, Jean-Sebastien, Allegaert, Karel, Aubard, Yves, Basmaison, Odile, Benevent, Jean-Baptiste, Biquard, Florence, Champion, Gérard, Delbosc, Jean-Marie, Eckart, Philippe, Gaucherand, Pascal, Guigonis, Vincent, Hougas, Blandine, Martin, Alain, Martin, Sophie, Maupin-Hyvonnet, Mariannick, Merveille, Marina, Mousty, Eve, Nobili, François, Taque, Sophie, Latosinska, Agnieszka, Faguer, Stanislas, Beige, Joachim, van der Zanden, Loes, Levtchenko, Elena, Moulos, Panogiotis, Lounis, Nadia, Conte-Auriol, Françoise, Olsen, Henning, Hindryckx, An, De Catte, Luc, Vayssieres, Christophe, Sartor, Agnes, Groussolles, Marion, Plard, Christelle, Guerby, Paul, Connan, Laure, Morin, Mathieu, Simon, Elizabeth, Breaud, Jean, Saliou, Anne-Hélène, De Parscau, Loic, Jay, Nadine, Germouty, Isabelle, Le Bouar, Gwenaelle, Ryckewaert, Amelie, Manca-Pellissier, Marie-Christine, Merrot, Thierry, Laurichesse, Helene, Gallot, Denis, Bessenay, Lucie, Bidat, Laurent, Boize, Philippe, Winer, Norbert, Allain-Launey, Emma, Le Vaillant, Claudine, Prieur, Fabienne, Lavocat, Marie-Pierre, Coatleven, Frederic, Debromez, Eric, Harembat, Jérôme, Llanas, Brigitte, Favre, Romain, Moog, Raphael, Zaloszyc, Ariane, Massardier, Jérôme, DEMEDE, Delphine, Perrotin, Franck, Cloarec, Sylvie, Vequeau-Goua, Valérie, Descombes, Emmanuelle, Boulot, Pierre, Morin, Denis, Fuchs, Florent, Tenenbaum, Julie, Ville, Yves, Blanc, Thomas, Heidet, Laurence, Paris, Anne, Dobremez, Eric, Froute, Marie-Françoise, Gondry, Jean, Muszynski, Charles, Haraux, Elodie, Lobelle, Fabienne, Chevreau, Julien, Rosenblatt, Jonathan, Baudoin, Véronique, Deschenes, Georges, Guigue, Virginie, Amblard, Florence, Bourdat-Michel, Guylhène, Wühl, Elke, Schaefer, Franz, Elsässer, Michael, Persico, Nicola, Rossi, Federica, Manzoni, Gianantonio, De Marco, Erika, Montini, Giovanni, Capone, Valentina, Caforio, Leonardo, Zaccara, Antonio, Innocenzi, Michele, Bagolan, Pietro, Capozza, Nicola, Castagnetti, Marco, Mancini, Mariangela, Oepkes, Dick, van Scheltema, Phebe Adama, Feitz, Wout, Kortmann, Barbara, Schreuder, Michiel, Pawłowska, Barbara, Fortecka-Piestrzeniewicz, Katarzyna, Olejniczak, Dariusz, Ariceta, Gema, Arevalo, Silvia, RODO, Carlota, Fossum, Magdalena, Lindgren, Peter, Parvex, Paloma, Chehade, Hassib, He, Tianlin, Metzger, Jochen, Mullen, William, Mischak, Harald, Zürbig, Petra, Jankowski, Vera, Buffin-Meyer, Bénédicte, Tkaczyk, Marcin, Stańczyk, Małgorzata, Breuil, Benjamin, Siwy, Justyna, Szaflik, Krzysztof, Talar, Tomasz, Wojtera, Justyna, Krzeszowski, Waldemar, Decramer, Stéphane, Lopatko Fagerström, Ingrid, Ståhl, Anne-lie, Mossberg, Maria, Tati, Ramesh, Kristoffersson, Ann-Charlotte, Kahn, Robin, Bascands, Jean-Loup, Klein, Julie, Schanstra, Joost, Segelmark, Mårten, Karpman, Diana, Department of Pediatrics [Lund, Sweden] (Clinical Sciences), Lund University [Lund], Wallenberg Center for Molecular Medicine [Lund, Sweden], Diabète athérothrombose et thérapies Réunion Océan Indien (DéTROI), Université de La Réunion (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Maladies Métaboliques et Cardiovasculaires (I2MC), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Nephrology [Lund, Sweden] (Clinical Sciences Lund), Department of Medical and Health Sciences [Lund, Sweden], Linköping University (LIU), The study was supported by The Swedish Research Council (K2015-99X-22877-01-6 and 2017-01920), The Knut and Alice Wallenberg Foundation (Wallenberg Clinical Scholar 2015.0320), The Torsten Söderberg Foundation, Skåne Centre of Excellence in Health, IngaBritt och Arne Lundberg's Research Foundation, Crown Princess Lovisa's Society for Child Care, Region Skåne and The Konung Gustaf V:s 80-årsfond (all to DK). Alfred Österlund Foundation (to LMFLL and RK). TheWallenberg Center forMolecular Medicine, The Swedish RheumatismAssociation, The Anna-Greta Crafoord Foundation, Greta and Johan Kock's Foundation, the Samariten Foundation, Fanny Ekdahl foundation, the Jerring foundation and the Thelma Zoegas Foundation (to RK). JPS and JK were partially funded by a grant from the 'Fondation pour la Recherche Médicale' (grant number DEQ20170336759). MS was funded by The Swedish Rheumatism Association and the Ingrid Asp Foundation., Schanstra, Joost, Macedonian Academy of Sciences and Arts [Skopje, North Macedonia] (MASA), Biomedical Research Foundation of the Academy of Athens (BRFAA), Mosaiques Diagnostics & Therapeutics (MOSAIQUES DIAGNOSTICS & THERAPEUTICS), Mosaiques Diagnostics & Therapeutics AG, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Institut de médecine moléculaire de Rangueil (I2MR), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-IFR150-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Toulouse [Toulouse], KfH-Nierenzentrum und Klinikum St. Georg, Nephrologie, Leipzig, Radboud University Medical Center [Nijmegen], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), HybridStat Predictive Analytics [Athens, Greece], Centre d'investigation clinique de Toulouse (CIC 1436), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), University Hospitals Leuven [Leuven], Heidelberg University Hospital [Heidelberg], University of Milan, Mosaiques Diagnostics GmbH [Hanovre, Allemagne], Institute of Cardiovascular and Medical Sciences [Glasgow], University of Glasgow, Universitätsklinikum RWTH Aachen - University Hospital Aachen [Aachen, Germany] (UKA), RWTH Aachen University, Polish Mother’s Memorial Hospital Research Institute [Lodz] (ICZMP), Mosaiques Diagnostics GmbH [Hannover, Germany], Mosaiques Diagnostics and Therapeutics AG [Hannover, Germany], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de La Réunion (UR), and Université Fédérale Toulouse Midi-Pyrénées

Subjects
0301 basic medicine, Male, Research paper, Mouse, Kallikrein-Kinin System, [SDV]Life Sciences [q-bio], Pharmacology, Kidney, Mice, 0302 clinical medicine, Glomerular C3 deposition, Cell-Derived Microparticles, Complement Activation, Cells, Cultured, Chemistry, General Medicine, Kinin, Middle Aged, Receptor antagonist, 3. Good health, [SDV] Life Sciences [q-bio], medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, medicine.symptom, Endothelial microvesicles, Complement C1 Inhibitor Protein, Protein Binding, Vasculitis, Complement, Radiology, Nuclear Medicine and Medical Imaging, Adult, Endothelium, medicine.drug_class, Inflammation, Bradykinin, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Classical complement pathway, medicine, Animals, Humans, Aged, Endothelial Cells, Biological Transport, Complement System Proteins, Microvesicles, Complement system, Disease Models, Animal, 030104 developmental biology, Immunoglobulin G, Endothelium, Vascular, Radiologi och bildbehandling
Abstract

Background: The complement and kallikrein-kinin systems (KKS) are activated during vascular inflammation. The aim of this study was to investigate if blockade of the KKS can affect complement activation on the endothelium during inflammation. Methods: Complement deposition on endothelial microvesicles was assayed in vasculitis patient plasma samples and controls. Plasma was perfused over glomerular endothelial cells and complement deposition assayed by flow cytometry. The effect of the kinin system was assessed using kinin receptor antagonists and C1-inhibitor. The in vivo effect was assessed in kidney sections from mice with nephrotoxic serum-induced glomerulonephritis treated with a kinin receptor antagonist. Findings: Vasculitis patient plasma had significantly more C3- and C9-positive endothelial microvesicles than controls. Perfusion of patient acute-phase plasma samples over glomerular endothelial cells induced the release of significantly more complement-positive microvesicles, in comparison to remission or control plasma. Complement activation on endothelial microvesicles was reduced by kinin B1- and B2-receptor antagonists or by C1-inhibitor (the main inhibitor of the classical pathway and the KKS). Likewise, perfusion of glomerular endothelial cells with C1-inhibitor-depleted plasma induced the release of complement-positive microvesicles, which was significantly reduced by kinin-receptor antagonists or C1-inhibitor. Mice with nephrotoxic serum-induced glomerulonephritis exhibited significantly reduced glomerular C3 deposition when treated with a B1-receptor antagonist. Interpretation: Excessive complement deposition on the endothelium will promote endothelial injury and the release of endothelial microvesicles. This study demonstrates that blockade of the KKS can reduce complement activation and thereby the inflammatory response on the endothelium. (C) 2019 The Authors. Published by Elsevier B.V. Funding Agencies|Swedish Research CouncilSwedish Research Council [K2015-99X-22877-01-6, 2017-01920]; Knut and Alice Wallenberg FoundationKnut & Alice Wallenberg Foundation [2015.0320]; Torsten Soderberg Foundation; Skane Centre of Excellence in Health; Crown Princess Lovisas Society for Child Care; Konung Gustaf V:s 80-arsfond; Alfred Osterlund Foundation; Wallenberg Center for Molecular Medicine; Swedish Rheumatism Association; Anna-Greta Crafoord Foundation; Greta and Johan Kocks Foundation; Samariten Foundation; Fanny Ekdahl foundation; Jerring foundation; Fondation pour la Recherche MedicaleFondation pour la Recherche Medicale [DEQ20170336759]; Ingrid Asp Foundation; IngaBritt och Arne Lundbergs Research Foundation; Region Skane; Thelma Zoegas Foundation

Published
2019

8. School level of children carrying a HNF1B variant or a deletion

Author

Laliève, Fanny, primary, Decramer, Stéphane, additional, Heidet, Laurence, additional, Baudouin, Véronique, additional, Lahoche, Annie, additional, Llanas, Brigitte, additional, Cochat, Pierre, additional, Tenenbaum, Julie, additional, Lavocat, Marie-Pierre, additional, Eckart, Philippe, additional, Broux, Françoise, additional, Roussey, Gwenaelle, additional, Cloarec, Sylvie, additional, Vrillon, Isabelle, additional, Dunand, Olivier, additional, Bessenay, Lucie, additional, Tsimaratos, Michel, additional, Nobili, François, additional, Pietrement, Christine, additional, De Parscau, Loïc, additional, Bonneville, Valérie, additional, Rodier, Nicolas, additional, Saint-Martin, Cécile, additional, Chassaing, Nicolas, additional, Michel-Calemard, Laurence, additional, Moriniere, Vincent, additional, Bellanné-Chantelot, Christine, additional, Bahans, Claire, additional, and Guigonis, Vincent, additional

Published
2019
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9. Treatment and outcome of congenital nephrotic syndrome

Author

Bérody, Sandra, primary, Heidet, Laurence, additional, Gribouval, Olivier, additional, Harambat, Jérome, additional, Niaudet, Patrick, additional, Baudouin, Veronique, additional, Bacchetta, Justine, additional, Boudaillez, Bernard, additional, Dehennault, Maud, additional, de Parscau, Loïc, additional, Dunand, Olivier, additional, Flodrops, Hugues, additional, Fila, Marc, additional, Garnier, Arnaud, additional, Louillet, Ferielle, additional, Macher, Marie-Alice, additional, May, Adrien, additional, Merieau, Elodie, additional, Monceaux, Françoise, additional, Pietrement, Christine, additional, Rousset-Rouvière, Caroline, additional, Roussey, Gwenaëlle, additional, Taque, Sophie, additional, Tenenbaum, Julie, additional, Ulinski, Tim, additional, Vieux, Rachel, additional, Zaloszyc, Ariane, additional, Morinière, Vincent, additional, Salomon, Rémi, additional, and Boyer, Olivia, additional

Published
2018
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10. The Constitutively Active V2 Receptor Mutants Conferring NSIAD Are Weakly Sensitive to Agonist and Antagonist Regulation

Author

Tenenbaum, Julie, primary, Ayoub, Mohammed A., additional, Perkovska, Sanja, additional, Adra-Delenne, Anne-Laure, additional, Mendre, Christiane, additional, Ranchin, Bruno, additional, Bricca, Giamperro, additional, Geelen, Ghislaine, additional, Mouillac, Bernard, additional, Durroux, Thierry, additional, and Morin, Denis, additional

Published
2009
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11. Treatment and outcome of congenital nephrotic syndrome.

Author

Bérody S, Heidet L, Gribouval O, Harambat J, Niaudet P, Baudouin V, Bacchetta J, Boudaillez B, Dehennault M, de Parscau L, Dunand O, Flodrops H, Fila M, Garnier A, Louillet F, Macher MA, May A, Merieau E, Monceaux F, Pietrement C, Rousset-Rouvière C, Roussey G, Taque S, Tenenbaum J, Ulinski T, Vieux R, Zaloszyc A, Morinière V, Salomon R, and Boyer O

Subjects
Disease Progression, Female, France epidemiology, Humans, Incidence, Infant, Infant, Newborn, Male, Nephrotic Syndrome epidemiology, Nephrotic Syndrome genetics, Nephrotic Syndrome therapy, Retrospective Studies, Survival Rate, Treatment Outcome, Membrane Proteins genetics, Mutation, Nephrectomy mortality, Nephrotic Syndrome mortality
Abstract

Background: Recommendations for management of Finnish-type congenital nephrotic syndrome (CNS) followed by many teams include daily albumin infusions, early bilateral nephrectomy, dialysis and transplantation. We aimed to assess the treatment and outcome of patients with CNS in France., Methods: We conducted a nationwide retrospective study on 55 consecutive children born between 2000 and 2014 treated for non-infectious CNS., Results: The estimated cumulative incidence of CNS was 0.5/100 000 live births. The underlying defect was biallelic mutations in NPHS1 (36/55, 65%), NPHS2 (5/55, 7%), PLCE1 (1/55, 2%), heterozygous mutation in WT1 (4/55, 7%) and not identified in nine children (16%). Fifty-three patients (96%) received daily albumin infusions from diagnosis (median age 14 days), which were spaced and withdrawn in 10 patients. Twenty children (35%) were managed as outpatients. Thirty-nine patients reached end-stage kidney disease (ESKD) at a median age of 11 months. The overall renal survival was 64% and 45% at 1 and 2 years of age, respectively. Thirteen children died during the study period including four at diagnosis, two of nosocomial catheter-related septic shock, six on dialysis and one after transplantation. The remaining 13 patients were alive with normal renal function at last follow-up [median 32 months (range 9-52)]. Renal and patient survivals were longer in patients with NPHS1 mutations than in other patients. The invasive infection rate was 2.41/patient/year., Conclusions: Our study shows: (i) a survival free from ESKD in two-thirds of patients at 1 year and in one-half at 2 years and (ii) a significant reduction or even a discontinuation of albumin infusions allowing ambulatory care in a subset of patients. These results highlight the need for new therapeutic guidelines for CNS patients., (© The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.)

Published
2019
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