1. The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy
- Author
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Vaisitti T., Peritore D., Magistroni P., Ricci A., Lombardini L., Gringeri E., Catalano S., Spada M., Sciveres M., Di Giorgio A., Limongelli G., Varrenti M., Gerosa G., Terzi A., Napoleone C. P., Amodeo A., Ragni L., Strologo L., Benetti E., Fontana I., Testa S., Peruzzi L., Mitrotti A., Abbate S., Comai G., Gotti E., Schiavon M., Boffini M., De Angelis D., Bertani A., Pinelli D., Torre M., Poggi C., Deaglio S., Cardillo M., Amoroso A., Serena A., Giorgia C., Vaisitti, T., Peritore, D., Magistroni, P., Ricci, A., Lombardini, L., Gringeri, E., Catalano, S., Spada, M., Sciveres, M., Di Giorgio, A., Limongelli, G., Varrenti, M., Gerosa, G., Terzi, A., Napoleone, C. P., Amodeo, A., Ragni, L., Strologo, L., Benetti, E., Fontana, I., Testa, S., Peruzzi, L., Mitrotti, A., Abbate, S., Comai, G., Gotti, E., Schiavon, M., Boffini, M., De Angelis, D., Bertani, A., Pinelli, D., Torre, M., Poggi, C., Deaglio, S., Cardillo, M., Amoroso, A., Serena, A., and Giorgia, C.
- Subjects
Registrie ,Pediatrics ,medicine.medical_specialty ,Transplant outcome ,Transplant Recipient ,Monogenic diseases ,Organ transplantation ,Rare diseases ,Child ,Humans ,Italy ,Quality of Life ,Registries ,Transplant Recipients ,Kidney Transplantation ,Organ Transplantation ,Disease ,Quality of life ,medicine ,Pharmacology (medical) ,Monogenic disease ,Genetics (clinical) ,Lung ,business.industry ,Research ,Liver and kidney ,General Medicine ,Transplantation ,medicine.anatomical_structure ,Cohort ,Medicine ,business ,Rare disease ,Human - Abstract
Background Rare diseases are chronic and life-threatening disorders affecting 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.
- Published
- 2021