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.

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

Vaisitti, Tiziana;Catalano, Silvia;Boffini, Massimo;Deaglio, Silvia
;
Amoroso, Antonio
2021-01-01

Abstract

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.
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Monogenic diseases; Organ transplantation; Rare diseases; Transplant outcome
Vaisitti, Tiziana; Peritore, Daniela; Magistroni, Paola; Ricci, Andrea; Lombardini, Letizia; Gringeri, Enrico; Catalano, Silvia; Spada, Marco; Sciveres, Marco; Di Giorgio, Angelo; Limongelli, Giuseppe; Varrenti, Marisa; Gerosa, Gino; Terzi, Amedeo; Napoleone, Carlo Pace; Amodeo, Antonio; Ragni, Luca; Strologo, Luca Dello; Benetti, Elisa; Fontana, Iris; Testa, Sara; Peruzzi, Licia; Mitrotti, Adele; Abbate, Serena; Comai, Giorgia; Gotti, Eliana; Schiavon, Marco; Boffini, Massimo; De Angelis, Daniele; Bertani, Alessandro; Pinelli, Domenico; Torre, Massimo; Poggi, Camilla; Deaglio, Silvia; Cardillo, Massimo; Amoroso, Antonio
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1800618
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