SUPPLEMENT nnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnnn n As reported in the literature, the mortality rate for patients with Acute Hepatic Failure (AHF) approaches 80 % in cases in which liver transplantation is not possible.Post transplant mortality depends on the seriousness of the neurological condition at the time of the operation (20 % in I-II degree coma patients and 44 % in III degree coma patients). This is the rationale for extracorporeal depuration treatment, as a bridge to transplantation, both in AHF and in Primary Non Function (PNF) cases.The recirculating molecular adsorption system (MARS), whose only function is to depurate through a "hybrid" membrane removing toxic substances related to albumin, has advantage in that it can be used for long periods. The aim of this study is to report on our experience in the use of MARS on 10 AHF patients (4 PNF, 2 delayed non function, 4 fulminant hepatitis). The average age was 41,8 years (range 23-56), 6 were male, 4 female. All had bilirubin 8805; 15 mg/ dl and ammonia 8805; 160 g/dl. MARS was applied for 8 € 1,5 hours a day. The average number of treatments was 6,4 (range 1-24).The EEG, hepatic and renal parameters were monitored before and after the treatment, while the hemodynamic parameters were monitored during the treatment.No hemodynamic complications occured during the treatment. A significant reduction in bilirubin (p < 0,01) and ammonia (p < 0,01) was observed. the average INR level at the onset of treatment was 2,05, at the end 1,59. After the treatment there was an improvement in neurological conditions. Three of the PNF patients recovered function of the transplanted organ and survived without further transplantations. The same applies for the two patients with delayed non function. All fulminant hepatitis patients were successfully bridged to transplantation, three subsquently died from complications, one was discharged in good condition.On the basis of our preliminary studies, the MARS treatment was found to be safe with a high tolerance rate, having a role in AHF treatment as bridge to liver transplantation or waiting for the graft to recover its functionality.

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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.