The Laboratory of Immunopathology and Molecular Biology of the Kidney is part of the Pediatric Nephrology Dialysis and Transplant unit of the Dept. of Women’s and children’s Health of Hospital/University of Padua. The Unit is a center of excellence and reference for Pediatric Nephrology and Rare kidney disease. It is also part of the international registries and networks (i.e. ERK-Net) for the diagnosis and treatment of kidney rare diseases. Furthermore, it works in close collaboration with various specialists to follow children patients from prenatal diagnosis to kidney transplantation, using a multidisciplinary and comprehensive approach. The Laboratory provides an analysis pattern for the immune-histological classification of primary and secondary pediatric renal diseases and for the follow-up of pediatric kidney transplantation recipients. It also coordinates the management of molecular tests for genetic kidney disease. Furthermore, the laboratory has a remarkable biobank of paraffin and frozen renal tissues of transplanted pediatric patients.The Pediatric Nephrology Dialysis and Transplant unit together with the laboratory conduct and coordinate important scientific studies, from the clinical trials to the translational research, in particular concerning kidney transplantation, congenital abnormalities of the kidney and urinary tract (CAKUT), nephrotic syndrome, acute kidney injury (AKI) and dialysis in childhood.
Concerning the CAKUT, one of the most severe phenotype is renal hypodysplasia (RHD), which is a defect in the number and/or normal differentiation of nephronic units with a subsequent impairment of kidney function. Even though mutations of at least 17 genes involved in the early stages of kidney development have been associated with RHD, the majority of patients remains without a genetic diagnosis. In the last three years, we have been participating in the University of Padua Strategic project “Bioinfogen” with the aim to create new bioinformatics tools to facilitate NGS data analysis in Mendelian diseases. Our unit is investigating on RHD genetic causes in 20 patients and their healthy relatives, with whole exome sequencing. To date we identified a new candidate genefor isolated bilateral RHD (INVS) and now we are continuing the validation studies. Furthermore, we highlighted a variant in a candidate gene in 25% of the analyzed cases. These results will permit to lay the basis for setting up a perspective RHD diagnostic panel.
Another milestone of our laboratory is the study of factors affecting the survival of kidney transplantation in the pediatric population. To date the survival graft rate is 20 years, data unacceptable for pediatric patients. Moreover, the gold standard in the diagnosis of renal allograft failure (main cause of kidney rejection), is the biopsy. We are studying urinary and blood extra cellular vesicles as of noninvasive biomarkers predictive of rejection.
- Susanna Negrisolo
- Andrea Carraro
- Giulia Fregonese
- Diana Marzenta
- Francesca Cattaneo
- Serena Abate
Selected PubblicationsIatropoulos P, Daina E, Curreri M, Piras R, Valoti E, Mele C, Bresin E, Gamba S, Alberti M, Breno M, Perna A, Bettoni S, Sabadini E, Murer L, Vivarelli M, Noris M, Remuzzi G; Registry of Membranoproliferative Glomerulonephritis/C3 Glomerulopathy; Nastasi.. 2018. Cluster Analysis Identifies Distinct Pathogenetic Patterns in C3 Glomerulopathies/Immune Complex-Mediated Membranoproliferative GN.. Journal of the American Society of Nephrology, 29(1), pp. 283-294. IF:8.966, cit. 1
Giglio S, Provenzano A, Mazzinghi B, Becherucci F, Giunti L, Sansavini G, Ravaglia F, RopertoRm, Farsetti S, Benetti E, Rotondi M, Murer L., Lazzeri E, Lasagni L, Materassi M, Romagnani P.. 2015. Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression.. Journal of The American Society of Nephrology, vol. 26; p. 230-236, IF 8.491, cit. 28
Barzon L*- Murer L*, Pacenti M, Biasolo Ma, Della Vella M, Benetti E, Zanon Gf, Palu G.. 2009. Investigation of intrarenal viral infections in kidney transplant recipients unveils an association between parvovirus B19 and chronic allograft injury.. The Journal of Infectious Diseases, VOL. 199, P. 372-380, IF 6.344, cit 19
L. Artifoni, L., Negrisolo, S., Montini, G., Zucchetta, P., Molinari, P.P., Cassar, W., Destro, R., Anglani, F., Rigamonti, W., Zacchello, G., Murer, L.. 2007. Interleukin-8 and CXCR1 Receptor Functional Polymorphisms and Susceptibility to Acute Pyelonephritis. Journal of Urology, 177(3), pp. 1102-1106 IF 5.157, cit 51
Murer L, Addabbo F, Carmosino M, Procino G, Tamma G, Montini G, Rigamonti W, Zucchetta P, DellaVella M, Venturini A, Zacchello G, Svelto M, Valenti G.. 2004. Selective decrease in urinary AQUAPORIN 2 and increase in PROSTAGLANDIN E2 excretion is associated with postobstructive polyuria in human congenital hydronephrosis.. Journal of The American Society of Nephrology, Vol. 15, P. 2705-2712, IF 8.491, Cit 34
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