COMUNICAZIONI 5 Genetica e Malattie Rare 1

Moderatori: Paola Pontrelli (Bari), Eleonora Riccio (Napoli)

MINILETTURA
Autoimmunità e infezioni
Chiara Casuscelli (Messina)

COMUNICAZIONI

• CO21 - MOSAICISM IN ADPKD PATIENT: A CASE REPORT
  N. Marzano, C. Caprara, T. Reis, D. Pomarè Montin, S.M. Pretto, M. Rigato, A. Giuliani, F. Gastaldon, C. Ronco, M. Zanella, V. Corradi
  International Renal Research Institute IRRIV Foundation, Vicenza, Italy; UOC Nefrology, ULSS 8 BERICA, San Bortolo Hospital, Vicenza, Italy; Laboratory of Molecular Pharmacology, University of Brasilia, Brazil; University of Florence, Italy
• CO22 - REAL WORLD OUTCOMES OF FABRY DISEASE IN ITALIAN EXCELLENCE CENTERS: THE GROUND STUDY
  A. Pisani1 , I. Olivotto2,3, R. Mignani4, F.U. Pieruzzi5,6, A. Tuttolomondo7, D. Noto8 , M. Pieroni9, E. Verrecchia10, E. Ingrassia11, A. Armaroli11
  1Department of Public Health, Federico II University, Naples, Italy. 2Meyer Hospital and Cardiomyopathy Unit, University Hospital Careggi, Firenze, Italy; 3Cardiomyopathy Unit, University Hospital Careggi, Firenze, Italy; 4Nephrology Unit, S. Orsola University Hospital, Bologna, Italy; 5Nephrology, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy; 6School of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy; 7Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, Molecular and Clinical Medicine, University of Palermo, Italy; 8Department of Health Promotion, Maternal and Child Health, Internal and Specialized Medicine of Excellence “G. D. Alessandro” PROMISE, University of Palermo, Italy; 9Cardiovascular Department, San Donato Hospital, Arezzo, Italy; 10Department of Geriatric and Orthopaedic Sciences, Catholic University of Sacred Heart, Rome, Italy; 11Medical Affairs Chiesi Italy S.p.A., Parma, Italy
• CO23 - VALUTAZIONE DEL GRADO DI PROTEINURIA NELLE DIFFERENTI FORME DI SINDROME DI ALPORT
  D. Toso1,3, M. Pilco3, M. Furlano3, M. Pybus4, E. Viera3, L. Fayos3, L. Zeni1, L. Econimo1, R. Cortinovis1, C. Dordoni2, C. Izzi2, F. Scolari1, F. Alberici1, E. Ars4, R. Torra3
  1U.O. Nefrologia, ASST Spedali Civili di Brescia, Università degli Studi di Brescia; 2U.O. Genetica clinica, ASST Spedali Civili di Brescia, Università degli Studi di Brescia; 3U.O. Nefrologia, Fundaciò Puigvert, Barcellona, Spagna, Università Autonoma di Barcellona, Spagna; 4U.O. Biologia Molecolare, Fundaciò Puigvert, Barcellona, Spagna, Università Autonoma di Barcellona, Spagna
• CO24 - ALTERATIONS OF THE INTERLEUKIN 6 SYSTEM IN ANDERSON-FABRY DISEASE
  G. Pintus1,2, L. Lenzini1, E. Iori3, M. Vettore3, C. Radu4, A. Padoan5, G. Carraro6, L. Calò6, P. Simioni4, D. Girelli7, G. Marchi7, N. Vitturi3
  1Internal & Emergency Medicine Unit, Department of Medicine, Padova University Hospital, Padova, Italy; 2Department of Clinical, Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Italy; 3Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, Padova, Italy; 4General Medicine and Thrombotic and Hemorrhagic Diseases Unit, Department of Medicine, Padova University Hospital, Padova, Italy; 5Laboratory Medicine Unit, University-Hospital of Padova, Italy; 6Nephrology, Dialysis and Transplant Unit, Department of Medicine, Padova University Hospital, Padova, Italy; 7Department of Medicine, Section of Internal Medicine, University of Verona, Italy
• CO25 - PREVALENZA DI IPERTROFIA VENTRICOLARE SINISTRA E VALVULOPATIE NELL’ ADPKD E ASSOCIAZIONI CON GENOTIPO E FENOTIPO: UPDATE DI UNO STUDIO MONOCENTRICO RETROSPETTIVO
  G. Condello1, P. Fulignati1, V. D’Ambrosio1,3, E. Rosati1, C. Tacente1, I. Mariani1, V. Tommolini1, L. Calvaruso1, G. Grandaliano1, F. Pesce2
  1Dipartimento di Medicina e Chirurgia Traslazionale, U.O.C Nefrologia Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy; 2Dipartimento di Scienze Mediche e Chirurgiche, U.O.S.D Nefrologia e Dialisi, Ospedale Isola Tiberina-Gemelli Isola, Rome, Italy; 3London Tubular centre, UCL, London, United Kingdom