ArticleOrphanet journal of rare diseases2021
The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 14 citations in OpenAlex.
- Deciding "what" to screen for and "when": The importance of natural history information.American journal of human genetics · 2026Review
- Genetic diagnosis of hereditary kidney disease in pediatric patients through whole-exome sequencing and mitochondrial DNA analysis.Kidney research and clinical practice · 2026Article
- Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis.Scientific reports · 2025Article
- Transabdominal ultrasound guided AAV9-GFP delivery in fetal pigs: a translational and minimally invasive model for in utero fetal gene therapy.Gene therapy · 2025Article
- Genomics in Pancreas-Kidney Transplantation: From Risk Stratification to Personalized Medicine.Genes · 2025Review
- Embryo and fetal gene editing: Technical challenges and progress toward clinical applications.Molecular therapy. Methods & clinical development · 2024Review
- Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Hepatology international · 2024Article
- Gene modification therapies for hereditary diseases in the fetus.Prenatal diagnosis · 2023Review
- The role of genetic testing in the diagnostic workflow of pediatric patients with kidney diseases: the experience of a single institution.Human genomics · 2023Article
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Authors and funding
37 authors at 15 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundRare 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.
resultsTo 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.
conclusionsThis 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.
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