The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.

Autor: Vaisitti T; Department of Medical Sciences, University of Torino, Via Nizza 52, 10126, Torino, Italy., Peritore D; National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy., Magistroni P; Immunogenetics and Transplant Biology, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, Torino, Italy., Ricci A; National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy., Lombardini L; National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy., Gringeri E; Hepatobiliary Surgery and Liver Transplantation Unit, Padova University Hospital, Padova, Italy., Catalano S; General Surgery 2U - Liver Transplant Center, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, University of Turin, Torino, Italy., Spada M; Divison of Hepatobiliopancreatic Surgery, Liver and Kidney Transplantation, Research Unit of Clinical Hepatogastroenterology and Transplantation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sciveres M; Department of Pediatrics, Ismett, Palermo, Italy., Di Giorgio A; Paediatric Hepatology, Gastroenterology and Transplantation, Papa Giovanni XXIII Hospital, Bergamo, Italy., Limongelli G; Center for Coordination on rare diseases - Regione Campania, Cardiovascular Rare and Genetic Diseases Unit, Department of Cardiology, Monaldi Hospital, AORN Dei Colli,, Naples, Italy., Varrenti M; DeGasperis CardioCenter, Niguarda Great Metropolitan Hospital, Milan, Italy., Gerosa G; Heart Transplantation Unit, Cardio-Thoraco-Vascular Sciences and Public Health Department, University Padova Hospital, Padova, Italy., Terzi A; UOS Transplantation Surgery, Asst Papa Giovanni XXIII Hospital, Bergamo, Italy., Pace Napoleone C; Pediatric Cardiac Surgery and Congenital Cardiopathies Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera Città Della Salute E Della Scienza Di Torino, Turin, Italy., Amodeo A; Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ragni L; Paediatric Cardiology and ACHD Unit, S. Orsola, Malpighi Hospital, Bologna, Italy., Dello Strologo L; Renal Transplant Unit. Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy., Benetti E; Pediatric Nephrology, Dialysis and Transplant Unit, Department of Women's and Children's Health, Padua University Hospital, Padua, Italy., Fontana I; Azienda Ospedaliera Universitaria San Martino, Genoa, Italy., Testa S; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Peruzzi L; Pediatric Nephrology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, Turin, Italy., Mitrotti A; Azienda Ospedaliera, Universitaria Policlinico Di Bari, Bari, Italy., Abbate S; Department of Pediatrics, Ismett, Palermo, Italy., Comai G; Nephrology, Dialysis and Kidney Transplant Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Gotti E; Unit of Nephrology, Azienda Socio Sanitaria Territoriale Papa Giovanni XXIII, Bergamo, Italy., Schiavon M; Thoracic Surgery and Lung Transplant Unit, Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University Hospital of Padua, Padua, Italy., Boffini M; Heart and Lung Transplant Center, Cardiac Surgery Division, Surgical Sciences Department, University of Torino, Torino, Italy., De Angelis D; Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bertani A; Division of Thoracic Surgery and Lung Transplantation, Department for the Treatment and Study of Cardiothoracic Diseases and Cardiothoracic Transplantation, IRCCS-ISMETT, Palermo, Italy., Pinelli D; Department of Organ Failure and Transplantation, ASST Giovanni XXIII, Bergamo, Italy., Torre M; Ospedale Maggiore Policlinico, Milan, Italy., Poggi C; Department of Thoracic Surgery, Policlinico Umberto I Hospital, University of Rome Sapienza, Rome, Italy., Deaglio S; Department of Medical Sciences, University of Torino, Via Nizza 52, 10126, Torino, Italy. silvia.deaglio@unito.it.; Immunogenetics and Transplant Biology, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, Torino, Italy. silvia.deaglio@unito.it., Cardillo M; National Transplant Center, Istituto Superiore Di Sanità, Roma, Italy., Amoroso A; Department of Medical Sciences, University of Torino, Via Nizza 52, 10126, Torino, Italy.; Immunogenetics and Transplant Biology, Azienda Ospedaliera Universitaria Città Della Salute E Della Scienza Di Torino, Torino, Italy.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Sep 04; Vol. 16 (1), pp. 374. Date of Electronic Publication: 2021 Sep 04.
DOI: 10.1186/s13023-021-02013-x
Abstrakt: Background: Rare diseases are chronic and life-threatening disorders affecting < 1 person every 2,000. For most of them, clinical symptoms and signs can be observed at birth or childhood. Approximately 80% of all rare diseases have a genetic background and most of them are monogenic conditions. In addition, while the majority of these diseases is still incurable, early diagnosis and specific treatment can improve patients' quality of life. Transplantation is among the therapeutic options and represents the definitive treatment for end-stage organ failure, both in children and adults. The aim of this paper was to analyze, in a large cohort of Italian patients, the main rare genetic diseases that led to organ transplantation, specifically pointing the attention on the pediatric cohort.
Results: To the purpose of our analysis, we considered heart, lung, liver and kidney transplants included in the Transplant Registry (TR) of the Italian National Transplantation Center in the 2002-2019 timeframe. Overall, 49,404 recipients were enrolled in the cohort, 5.1% of whom in the pediatric age. For 40,909 (82.8%) transplant recipients, a disease diagnosis was available, of which 38,615 in the adult cohort, while 8,495 patients (17.2%) were undiagnosed. There were 128 disease categories, and of these, 117 were listed in the main rare disease databases. In the pediatric cohort, 2,294 (5.6%) patients had a disease diagnosis: of the 2,126 (92.7%) patients affected by a rare disease, 1,402 (61.1%) presented with a monogenic condition. As expected, the frequencies of pathologies leading to organ failure were different between the pediatric and the adult cohort. Moreover, the pediatric group was characterized, compared to the adult one, by an overall better survival of the graft at ten years after transplant, with the only exception of lung transplants. When comparing survival considering rare vs non-rare diseases or rare and monogenic vs rare non-monogenic conditions, no differences were highlighted for kidney and lung transplants, while rare diseases had a better survival in liver as opposed to heart transplants.
Conclusions: This work represents the first national survey analyzing the main genetic causes and frequencies of rare and/or monogenic diseases leading to organ failure and requiring transplantation both in adults and children.
(© 2021. The Author(s).)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje