Publications by authors named "Giacomo Torti"
Fabry disease is a complex pathology, requiring a multidisciplinar approach both in the diagnostic workout and in the management of therapy. Clinical criteria able to predict its morbidity have not yet been found. The wide variability of clinical signs and symptoms requires an individual approach based on the single patient, in order to achieve an optimal management.
View Article and Find Full Text PDFThe occurrence of renal cell carcinoma (RCC) in Fabry disease (FD) is a rare event. We report a deep ultrastructural study of RCC in a patient with a previous histological diagnosis of FD. In order to highlight analogies and differences between the two histological samples, we used the nephrectomy specimen as a 'repeat biopsy', making a dynamic analysis of the evolution of the disease-related kidney damage.
View Article and Find Full Text PDFObjective: To evaluate oxidative stress in uremia and dialysis and chromogranin A, a stress hormone that could be related to oxidative processes.
Methods: Plasma oxidative stress biomarkers (-SH, 8-OHdG, and ox-LDL) and chromogranin A were measured in 89 outpatients (21 uremic patients, 17 in peritoneal dialysis, and 51 in haemodialysis), and in 18 subjects with normal renal function.
Results: -SH groups were significantly reduced in heamodialysis, peritoneal, and uremic patients as compared with the control group (p=0.
Article Synopsis
- In Fabry disease, end-stage renal disease (ESRD) and major complications affect patient health significantly, prompting a study in Italy to assess cardiac health and kidney function in patients receiving therapies.
- The study included 34 patients (31 males, 2 females) undergoing renal replacement therapy (RRT) and enzyme replacement therapy (ERT), measuring various cardiac and kidney parameters over time.
- Results indicated that while dialysis patients showed worsening cardiac health, those who received transplants maintained stable cardiac metrics and mild decline in kidney function, suggesting kidney transplants are preferable for long-term care in these patients.