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8. Cluster analysis identifies distinct pathogenetic patterns in c3 glomerulopathies/immune complex–Mediated membranoproliferative GN

Author

Iatropoulos, 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, Bottanelli, L, Donadelli, R, Cuccarolo, P, Abbate, M, Carrara, C, Cannata, A, Ferrari, S, Gaspari, F, Stucchi, N, Bassani, C, Lena, M, Omati, G, Taruscia, D, Bellantuono, R, Giordano, M, Messina, G, Caruso, M, Gotti, E, Mescia, F, Perticucci, E, Schieppati, A, Verdoni, L, Berto, M, Baraldi, O, Montini, G, Pasini, A, Passler, W, Degasperi, T, Gaggiotti, M, Gregorini, G, Miglietti, N, Guarnieri, A, Cirami, L, Roperto, R, Di Giorgio, G, Barbano, G, Innocenti, M, Ghiggeri, G, Magnasco, A, Rolla, D, Casartelli, D, Lambertini, D, Maggio, M, Cosci, P, Conti, G, Amar, K, Ardissino, G, Marinosci, A, Sinico, R, Montoli, A, Bonucchi, D, Facchini, F, Furci, L, Ferretti, A, Nuzzi, F, Pecoraro, C, Visciano, B, Canavese, C, Radin, E, Stratta, P, Nordio, M, Benetti, E, Parolin, M, Alberici, F, Manenti, L, Brugnano, R, Manenti, F, Capitanini, A, Emma, F, Massella, L, Rosa, M, Mazzon, M, Basso, E, Besso, L, Lavacca, A, Mella, A, Bertero, M, Coppo, R, Peruzzi, L, Porcellini, M, Piccoli, G, Clari, R, Pasi, A, Gangemi, C, Alfandary, H, Dagan, A, Conceiçao, M, Sameiro, F, Croze, L, Malvezzi, P, Tsygin, A, Zelan, B, Nastasi, N, Iatropoulos, Paraskevas, Daina, Erica, Curreri, Manuela, Piras, Rossella, Valoti, Elisabetta, Mele, Caterina, Bresin, Elena, Gamba, Sara, Alberti, Marta, Breno, Matteo, Perna, Annalisa, Bettoni, Serena, Sabadini, Ettore, Murer, Luisa, Vivarelli, Marina, Noris, Marina, Remuzzi, Giuseppe, Bottanelli, L., Donadelli, R., Cuccarolo, P., Abbate, M., Carrara, C., Cannata, A., Ferrari, S., Gaspari, F., Stucchi, N., Bassani, C., Lena, M., Omati, G., Taruscia, D., Bellantuono, R., Giordano, M., Messina, G., Caruso, M., Gotti, E., Mescia, F., Perticucci, E., Schieppati, A., Verdoni, L., Berto, M., Baraldi, O., Montini, G., Pasini, A., Passler, W., Degasperi, T., Gaggiotti, M., Gregorini, G., Miglietti, N., Guarnieri, A., Cirami, L., Roperto, R. M., Di Giorgio, G., Barbano, G., Innocenti, M. L. D., Ghiggeri, G. M., Magnasco, A., Rolla, D., Casartelli, D., Lambertini, D., Maggio, M., Cosci, P. M., Conti, G., Amar, K., Ardissino, G., Marinosci, A., Sinico, R. A., Montoli, A., Bonucchi, D., Facchini, F., Furci, L., Ferretti, A., Nuzzi, F., Pecoraro, C., Visciano, B., Canavese, C., Radin, E., Stratta, P., Nordio, M., Benetti, E., Parolin, M., Alberici, F., Manenti, L., Brugnano, R., Manenti, F., Capitanini, A., Emma, F., Massella, L., Rosa, M., Mazzon, M., Basso, E., Besso, L., Lavacca, A., Mella, A., Bertero, M., Coppo, R., Peruzzi, L., Porcellini, M. G., Piccoli, G. B., Clari, R., Pasi, A., Gangemi, C., Alfandary, H., Dagan, A., Conceiçao, M., Sameiro, F. M., Croze, L., Malvezzi, P., Tsygin, A., Zelan, B., Nastasi, null, Iatropoulos, 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, Bottanelli, L, Donadelli, R, Cuccarolo, P, Abbate, M, Carrara, C, Cannata, A, Ferrari, S, Gaspari, F, Stucchi, N, Bassani, C, Lena, M, Omati, G, Taruscia, D, Bellantuono, R, Giordano, M, Messina, G, Caruso, M, Gotti, E, Mescia, F, Perticucci, E, Schieppati, A, Verdoni, L, Berto, M, Baraldi, O, Montini, G, Pasini, A, Passler, W, Degasperi, T, Gaggiotti, M, Gregorini, G, Miglietti, N, Guarnieri, A, Cirami, L, Roperto, R, Di Giorgio, G, Barbano, G, Innocenti, M, Ghiggeri, G, Magnasco, A, Rolla, D, Casartelli, D, Lambertini, D, Maggio, M, Cosci, P, Conti, G, Amar, K, Ardissino, G, Marinosci, A, Sinico, R, Montoli, A, Bonucchi, D, Facchini, F, Furci, L, Ferretti, A, Nuzzi, F, Pecoraro, C, Visciano, B, Canavese, C, Radin, E, Stratta, P, Nordio, M, Benetti, E, Parolin, M, Alberici, F, Manenti, L, Brugnano, R, Manenti, F, Capitanini, A, Emma, F, Massella, L, Rosa, M, Mazzon, M, Basso, E, Besso, L, Lavacca, A, Mella, A, Bertero, M, Coppo, R, Peruzzi, L, Porcellini, M, Piccoli, G, Clari, R, Pasi, A, Gangemi, C, Alfandary, H, Dagan, A, Conceiçao, M, Sameiro, F, Croze, L, Malvezzi, P, Tsygin, A, Zelan, B, Nastasi, N, Iatropoulos, Paraskevas, Daina, Erica, Curreri, Manuela, Piras, Rossella, Valoti, Elisabetta, Mele, Caterina, Bresin, Elena, Gamba, Sara, Alberti, Marta, Breno, Matteo, Perna, Annalisa, Bettoni, Serena, Sabadini, Ettore, Murer, Luisa, Vivarelli, Marina, Noris, Marina, Remuzzi, Giuseppe, Bottanelli, L., Donadelli, R., Cuccarolo, P., Abbate, M., Carrara, C., Cannata, A., Ferrari, S., Gaspari, F., Stucchi, N., Bassani, C., Lena, M., Omati, G., Taruscia, D., Bellantuono, R., Giordano, M., Messina, G., Caruso, M., Gotti, E., Mescia, F., Perticucci, E., Schieppati, A., Verdoni, L., Berto, M., Baraldi, O., Montini, G., Pasini, A., Passler, W., Degasperi, T., Gaggiotti, M., Gregorini, G., Miglietti, N., Guarnieri, A., Cirami, L., Roperto, R. M., Di Giorgio, G., Barbano, G., Innocenti, M. L. D., Ghiggeri, G. M., Magnasco, A., Rolla, D., Casartelli, D., Lambertini, D., Maggio, M., Cosci, P. M., Conti, G., Amar, K., Ardissino, G., Marinosci, A., Sinico, R. A., Montoli, A., Bonucchi, D., Facchini, F., Furci, L., Ferretti, A., Nuzzi, F., Pecoraro, C., Visciano, B., Canavese, C., Radin, E., Stratta, P., Nordio, M., Benetti, E., Parolin, M., Alberici, F., Manenti, L., Brugnano, R., Manenti, F., Capitanini, A., Emma, F., Massella, L., Rosa, M., Mazzon, M., Basso, E., Besso, L., Lavacca, A., Mella, A., Bertero, M., Coppo, R., Peruzzi, L., Porcellini, M. G., Piccoli, G. B., Clari, R., Pasi, A., Gangemi, C., Alfandary, H., Dagan, A., Conceiçao, M., Sameiro, F. M., Croze, L., Malvezzi, P., Tsygin, A., Zelan, B., and Nastasi, null

Abstract

Membranoproliferative GN (MPGN) was recently reclassified as alternative pathway complement–mediated C3 glomerulopathy (C3G) and immune complex–mediated membranoproliferative GN (IC-MPGN). However, genetic and acquired alternative pathway abnormalities are also observed in IC-MPGN. Here, we explored the presence of distinct disease entities characterized by specific pathophysiologic mechanisms. We performed unsupervised hierarchical clustering, a data-driven statistical approach, on histologic, genetic, and clinical data and data regarding serum/plasma complement parameters from 173 patients with C3G/IC-MPGN. This approach divided patients into four clusters, indicating the existence of four different pathogenetic patterns. Specifically, this analysis separated patients with fluid-phase complement activation (clusters 1–3) who had low serum C3 levels and a high prevalence of genetic and acquired alternative pathway abnormalities from patients with solid-phase complement activation (cluster 4) who had normal or mildly altered serum C3, late disease onset, and poor renal survival. In patients with fluid-phase complement activation, those in clusters 1 and 2 had massive activation of the alternative pathway, including activation of the terminal pathway, and the highest prevalence of subendothelial deposits, but those in cluster 2 had additional activation of the classic pathway and the highest prevalence of nephrotic syndrome at disease onset. Patients in cluster 3 had prevalent activation of C3 convertase and highly electron-dense intramembranous deposits. In addition, we provide a simple algorithm to assign patients with C3G/IC-MPGN to specific clusters. These distinct clusters may facilitate clarification of disease etiology, improve risk assessment for ESRD, and pave the way for personalized treatment.

Published
2018

12. Cluster Analysis Identifies Distinct Pathogenetic Patterns in C3 Glomerulopathies/Immune Complex–Mediated Membranoproliferative GN

Author

Iatropoulos, Paraskevas, Daina, Erica, Curreri, Manuela, Piras, Rossella, Valoti, Elisabetta, Mele, Caterina, Bresin, Elena, Gamba, Sara, Alberti, Marta, Breno, Matteo, Perna, Annalisa, Bettoni, Serena, Sabadini, Ettore, Murer, Luisa, Vivarelli, Marina, Noris, Marina, Remuzzi, Giuseppe, Bottanelli, L., Donadelli, R., Cuccarolo, P., Abbate, M., Carrara, C., Cannata, A., Ferrari, S., Gaspari, F., Stucchi, N., Bassani, C., Lena, M., Omati, G., Taruscia, D., Bellantuono, R., Giordano, M., Messina, G., Caruso, M., Gotti, E., Mescia, F., Perticucci, E., Schieppati, A., Verdoni, L., Berto, M., Baraldi, O., Montini, G., Pasini, A., Passler, W., Degasperi, T., Gaggiotti, M., Gregorini, G., Miglietti, N., Guarnieri, A., Cirami, L., Roperto, R. M., Di Giorgio, G., Barbano, G., Innocenti, M. L. D., Ghiggeri, G. M., Magnasco, A., Rolla, D., Casartelli, D., Lambertini, D., Maggio, M., Cosci, P. M., Conti, G., Amar, K., Ardissino, G., Marinosci, A., Sinico, R. A., Montoli, A., Bonucchi, D., Facchini, F., Furci, L., Ferretti, A., Nuzzi, F., Pecoraro, C., Visciano, B., Canavese, C., Radin, E., Stratta, P., Nordio, M., Benetti, E., Parolin, M., Alberici, F., Manenti, L., Brugnano, R., Manenti, F., Capitanini, A., Emma, F., Massella, L., Rosa, M., Mazzon, M., Basso, E., Besso, L., Lavacca, A., Mella, A., Bertero, M., Coppo, R., Peruzzi, L., Porcellini, M. G., Piccoli, G. B., Clari, R., Pasi, A., Gangemi, C., Alfandary, H., Dagan, A., Conceiçao, M., Sameiro, F. M., Croze, L., Malvezzi, P., Tsygin, A., Zelan, B., Nastasi, null, Iatropoulos, 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, Bottanelli, L, Donadelli, R, Cuccarolo, P, Abbate, M, Carrara, C, Cannata, A, Ferrari, S, Gaspari, F, Stucchi, N, Bassani, C, Lena, M, Omati, G, Taruscia, D, Bellantuono, R, Giordano, M, Messina, G, Caruso, M, Gotti, E, Mescia, F, Perticucci, E, Schieppati, A, Verdoni, L, Berto, M, Baraldi, O, Montini, G, Pasini, A, Passler, W, Degasperi, T, Gaggiotti, M, Gregorini, G, Miglietti, N, Guarnieri, A, Cirami, L, Roperto, R, Di Giorgio, G, Barbano, G, Innocenti, M, Ghiggeri, G, Magnasco, A, Rolla, D, Casartelli, D, Lambertini, D, Maggio, M, Cosci, P, Conti, G, Amar, K, Ardissino, G, Marinosci, A, Sinico, R, Montoli, A, Bonucchi, D, Facchini, F, Furci, L, Ferretti, A, Nuzzi, F, Pecoraro, C, Visciano, B, Canavese, C, Radin, E, Stratta, P, Nordio, M, Benetti, E, Parolin, M, Alberici, F, Manenti, L, Brugnano, R, Manenti, F, Capitanini, A, Emma, F, Massella, L, Rosa, M, Mazzon, M, Basso, E, Besso, L, Lavacca, A, Mella, A, Bertero, M, Coppo, R, Peruzzi, L, Porcellini, M, Piccoli, G, Clari, R, Pasi, A, Gangemi, C, Alfandary, H, Dagan, A, Conceiçao, M, Sameiro, F, Croze, L, Malvezzi, P, Tsygin, A, Zelan, B, and Nastasi, N

Subjects
0301 basic medicine, Complement system, Glomerulonephritis, Membranoproliferative, membranoproliferative glomerulonephritis (MPGN), 030232 urology & nephrology, Disease, Antigen-Antibody Complex, Biology, Kidney, 03 medical and health sciences, 0302 clinical medicine, Glomerulopathy, Clinical Research, medicine, Dense Deposit Disease, Humans, C3 glomerulopathy, General Medicine, Complement System Proteins, C3 glomerulonephriti, medicine.disease, C3-convertase, Immune complex, 030104 developmental biology, Nephrology, Immunology, Alternative complement pathway, Nephrotic syndrome, Rare disease
Abstract

Membranoproliferative GN (MPGN) was recently reclassified as alternative pathway complement–mediated C3 glomerulopathy (C3G) and immune complex–mediated membranoproliferative GN (IC-MPGN). However, genetic and acquired alternative pathway abnormalities are also observed in IC-MPGN. Here, we explored the presence of distinct disease entities characterized by specific pathophysiologic mechanisms. We performed unsupervised hierarchical clustering, a data-driven statistical approach, on histologic, genetic, and clinical data and data regarding serum/plasma complement parameters from 173 patients with C3G/IC-MPGN. This approach divided patients into four clusters, indicating the existence of four different pathogenetic patterns. Specifically, this analysis separated patients with fluid-phase complement activation (clusters 1–3) who had low serum C3 levels and a high prevalence of genetic and acquired alternative pathway abnormalities from patients with solid-phase complement activation (cluster 4) who had normal or mildly altered serum C3, late disease onset, and poor renal survival. In patients with fluid-phase complement activation, those in clusters 1 and 2 had massive activation of the alternative pathway, including activation of the terminal pathway, and the highest prevalence of subendothelial deposits, but those in cluster 2 had additional activation of the classic pathway and the highest prevalence of nephrotic syndrome at disease onset. Patients in cluster 3 had prevalent activation of C3 convertase and highly electron-dense intramembranous deposits. In addition, we provide a simple algorithm to assign patients with C3G/IC-MPGN to specific clusters. These distinct clusters may facilitate clarification of disease etiology, improve risk assessment for ESRD, and pave the way for personalized treatment.

Published
2017

13. Early proteinuria lowering by angiotensin-converting enzyme inhibition predicts renal survival in children with CKD

Author

Van Den Belt S.M., Heerspink H.J.L., Gracchi V., De Zeeuw D., Wühl E., Schaefer F., Anarat A., Bakkaloglu A., Ozaltin F., Peco-Antic A., Querfeld U., Gellermann J., Sallay P., Drozdz D., Bonzel K.-E., Wingen A.-M., Zurowska A., Balasz I., Trivelli A., Perfumo F., Müller-Wiefel D.E., Möller K., Offner G., Enke B., Gimpel C., Mehls O., Emre S., Caliskan S., Mir S., Wygoda S., Hohbach-Hohenfellner K., Jeck N., Klaus G., Ardissino G., Testa S., Montini G., Charbit M., Niaudet P., Caldas-Afonso A., Fernandes-Teixeira A., Dušek J., Matteucci M.C., Picca S., Mastrostefano A., Wigger M., Berg U.B., Celsi G., Fischbach M., Terzic J., Fydryk J., Urasinski T., Coppo R., Peruzzi L., Arbeiter K., Jankauskiené A., Grenda R., Litwin M., Janas R., Laube G., Neuhaus T.J., Çukurova Üniversitesi, Çocuk Sağlığı ve Hastalıkları, Ege Üniversitesi, Groningen Kidney Center (GKC), and Real World Studies in PharmacoEpidemiology, -Genetics, -Economics and -Therapy (PEGET)

Subjects
Male, Medizin, 030232 urology & nephrology, Angiotensin-Converting Enzyme Inhibitors, Blood Pressure, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, urologic and male genital diseases, 0302 clinical medicine, Ramipril, Medicine, Child, Proteinuria, biology, Hazard ratio, General Medicine, Prognosis, female genital diseases and pregnancy complications, Survival Rate, ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS, Treatment Outcome, Nephrology, Area Under Curve, Child, Preschool, Disease Progression, Female, InformationSystems_MISCELLANEOUS, medicine.symptom, Glomerular Filtration Rate, medicine.drug, medicine.medical_specialty, Adolescent, Urology, Renal function, Risk Assessment, 03 medical and health sciences, Clinical Research, Confidence Intervals, Humans, Proportional Hazards Models, business.industry, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Angiotensin-converting enzyme, Confidence interval, ComputingMethodologies_PATTERNRECOGNITION, Concomitant, Multivariate Analysis, Linear Models, biology.protein, Kidney Failure, Chronic, business, Renal survival
Abstract

PubMed ID: 29930161, Background Although pharmacotherapeutic proteinuria lowering was found to be nephroprotective in adults, the predictive value of early drug-induced proteinuria reduction for long-term renal survival in pediatric CKD is unknown. We analyzed data from the ESCAPE Trial for a potential association between initial antiproteinuric effect of standardized angiotensin-converting enzyme (ACE) inhibition and renal disease progression in children with CKD. Methods In total, 280 eligible children with CKD stages 2-4 (mean age 11.7 years old, median eGFR 46 ml/min per 1.73 m2, 71% congenital renal malformations) received a fixed dose of ramipril (6 mg/m2 per day) and were subsequently randomized to conventional or intensified BP control. We assessed initial proteinuria reduction from baseline to first measurement on ramipril (at 2.561.3 months). We used multivariable Cox modeling to estimate the association between initial proteinuria reduction and the risk of reaching a renal end point (50% eGFR decline or ESRD), which occurred in 80 patients during 5 years of observation. Results Ramipril therapy lowered proteinuria by a mean of 43.5% (95% confidence interval, 36.3% to 49.9%). Relative to proteinuria reduction,30%, 30%-60% and .60% reduction resulted in hazard ratios (95% confidence intervals) of 0.70 (0.40 to 1.22) and 0.42 (0.22 to 0.79), respectively. This association was independent of age, sex, CKD diagnosis, baseline eGFR, baseline proteinuria, initial BP, and concomitant BP reduction. Conclusions The early antiproteinuric effect of ACE inhibition is associated with long-term preservation of renal function in children with CKD. Proteinuria lowering should be considered an important target in the management of pediatric CKD. Copyright © 2018 by the American Society of Nephrology., Baxter Nederland Fifth Framework Programme: QLRT-2001-00908 Boehringer Ingelheim Stiftung Cancer Research Foundation European Commission American College of Endocrinology, The Effect of Strict Blood Pressure Control and ACE inhibition on the Progression of CRF in Pediatric Patients (ESCAPE) Trial was supported by grants from the Boehringer Ingelheim Stiftung, the European Commission (Fifth Framework Programme QLRT-2001-00908), the Kuratorium für Dialyse und Nierentransplantation e.V., Neu-Isenburg, and the Baxter Extramural Grant Program. Aventis Pharmaceuticals supplied ramipril and financed the Good Clinical Practice audit.

Published
2018

15. Plasmapheresis-hemodialysis tandem in children and young adults

Author

Scarfia, R.V., Paglialonga, F., Ardissino, G., Biasuzzi, A., Bagnaschi, G., Ballarino, A., Frezzani, V., Patricelli, M.G., Sala, D., Testa, S., Edefonti, A., Scarfia, R.V., Paglialonga, F., Ardissino, G., Biasuzzi, A., Bagnaschi, G., Ballarino, A., Frezzani, V., Patricelli, M.G., Sala, D., Testa, S., and Edefonti, A.

Abstract

No abstract, In pazienti che necessitino sia di plasmaferesi (PLF) che di emodialisi (ED), l'applicazione simultanea delle due metodiche, nota come tandem PLF-ED (TPE) può costituire una soluzione vantaggiosa. Tuttavia esiste scarsa esperienza circa il suo utilizzo, in particolare in età pediatrica. Abbiamo esaminato in modo retrospettivo le sedute di TPE eseguite negli ultimi 5 anni nel nostro Centro. I trattamenti di TPE sono stati 67 in 7 pazienti, di età mediana 16.2 anni (5–34) e peso mediano di 37 kg (17.0– 59.0). Le indicazioni per TPH erano: sindrome emolitica uremica atipica da deficit di fattore H, fattore I o da mutazioni non definite, nella maggior parte delle sedute (64/67 sedute), vasculite, glomerulosclerosi focale (prima del trapianto) e iperimmunizzazione in pazienti in lista per trapianto di rene. In 66/67 trattamenti la procedura è stata completata con successo, raggiungendo i volumi di sostituzione e ultrafiltrazione desiderati. La durata della PLF è stata inferiore a quella di ED, e non ha quindi comportato un prolungamento della seduta dialitica. Un unico trattamento è stato interrotto a causa di un episodio ipotensivo, in una paziente nota per ipotensioni ricorrenti. In conclusione la TPE è una procedura sicura e ben tollerata, anche in bambini e adolescenti stabili dal punto di vista emodinamico.

Published
2018

16. CKD GENERAL AND CLINICAL EPIDEMIOLOGY 2

Author

Davids, M. R., Marais, N., Jacobs, J., Cohen, E., Krause, I., Goldberg, E., Garty, M., Dursun, B., Sahan, Y., Tanriverdi, H., Rota, S., Uslu, S., Senol, H., Minutolo, R., Gabbai, F. B., Agarwal, R., Chiodini, P., Borrelli, S., Stanzione, G., Nappi, F., Bellizzi, V., Conte, G., Nicola, L. D., J. V., De, Johnson, S., Fremeaux Bacchi, V., Ardissino, G., Ariceta, G., Beauchamp, J., Cohen, D., Greenbaum, L. A., Ogawa, M., Schaefer, F., Licht, C., Scalzotto, E., Nalesso, F., Zaglia, T., Corradi, V., Neri, M., Martino, F., Zanella, M., Brendolan, A., Mongillo, M., Ronco, C., Chinnappa, S., Mooney, A., A. M., El, Y. K., Tu, Tan, L. B., Jung, J. Y., Kim, A. J., Ro, H., Lee, C., Chang, J. H., Lee, H. H., Chung, W., Clarke, A. L., Young, H. M., Hull, K. L., Hudson, N., Burton, J. O., Smith, A. C., Marx, S., Petrilla, A., Filipovic, I., Lee, W. C., Meijers, B., Poesen, R., Storr, M., Claes, K., Kuypers, D., Evenepoel, P., Aukland, M., Betriu, A., Martinez Alonso, M., Arcidiacono, M. V., Cannata Andia, J., Pascual, J., Valdivielso, J. M., Fernandez Giraldez, E., Kingswood, J. C., Zonnenberg, B., Sauter, M., Zakar, G., Biro, B., Besenczi, B., Varga, A., Pekacs, P., Pizzini, P., Pisano, A., Leonardis, D., Panuccio, V., Cutrupi, S., Tripepi, G., Mallamaci, F., Zoccali, C., Arnold, J., Baharani, J., Rayner, H., B. H., So, Blackwell, S., Jardine, A. G., Macgregor, M. S., Cunha, C., Barreto, P., Pereira, S., Ventura, A., Mota, M., Seabra, J., Sakaguchi, T., Kobayashi, S., Yano, T., Yoshimoto, W., Bancu, I., Bastons, J. B., Escayola, M. C., Vallespin, E. V., Poblet, M. B., Luque, D. M., Fabregas, M. P., Chen, J., Chen, S., Chang, J., Hwang, S., Chen, H., Ahbap, E., Kara, E., Basturk, T., Sahutoglu, T., Koc, Y., Sakaci, T., Sevinc, M., Akgol, C., Ozagari, A. A., Unsal, A., Minami, S., Hesaka, A., Yamaguchi, S., Iwahashi, E., Sakai, S., Fujimoto, T., Sasaki, K., Fujita, Y., Yokoyama, K., Marks, A., Fluck, N., Prescott, G., Robertson, L., Smith, W. C., Black, C., Ohsawa, M., Fujioka, T., Omori, S., Isurugi, T., Tanno, K., Onoda, T., Omama, S., Ishibashi, Y., Makita, S., Okayama, A., Garland, J. S., Simpson, C. S., Metangi, M. F., Parfrey, B., Johri, A. M., Sloan, L., Mcauley, J., Cunningham, R., Mullan, R., Quinn, M., Harron, C., Chiu, H., Murphy Burke, D., Werb, R., Jung, B., Chan Yan, C., Duncan, J., Forzley, B., Lowry, R., Hargrove, G., Carson, R., Levin, A., Karim, M., Reznik, E. V., G. I. V., Rollino, C., Troiano, M., Bagatella, M., Liuzzo, C., Quarello, F., Roccatello, D., Blaslov, K., Bulum, T., Prkacin, I., Duvnjak, L., Heleniak, Z., Cieplinska, M., Szychlinski, T., Pryczkowska, M., Bartosinska, E., Wiatr, H., Kotlowska, H., Tylicki, L., Rutkowski, B., Song, Y. R., Kim, S. G., Kim, H. J., Noh, J. W., Tong, A., Jesudason, S., Craig, J. C., Winkelmayer, W. C., Hung, P. H., Huang, Y. T., Hsiao, C. Y., Sung, P. S., Guo, H. R., Tsai, K. J., Wu, C., Su, S., Kao, S., Lu, K., Lin, Y., Lin, W., Lee, H., Cheng, M., Wang, W., Yang, L., Wang, M., Lela, I. V., Sekoranja, M., Poljicanin, T., Karanovic, S., Abramovic, M., Matijevic, V., Stipancic, Z., Leko, N., Cvitkovic, A., Dika, Z., Kos, J., Laganovic, M., Grollman, A. P., Jelakovic, B., Dryl Rydzynska, T., Prystacki, T., Malyszko, J., Trifiro', Gianluca, Sultana, J., Giorgianni, F., Ingrasciotta, Y., Muscianisi, M., Tari, D. U., Perrotta, M., Buemi, Michele, Canale, V., Arcoraci, Vincenzo, Santoro, Domenico, Rizzo, M., Iheanacho, I., Van, F. E., Goldsmith, D., Grandtnerova, B., Beratsova, Z., Cervenˇova, M., Cˇervenˇ, J., Markech, M., Stefanikova, A., Engelen, W., Elseviers, M., Gheuens, E., Colson, C., Muyshondt, I., and Daelemans, R.

Subjects
Transplantation, medicine.medical_specialty, business.industry, urologic and male genital diseases, medicine.disease, Gastroenterology, female genital diseases and pregnancy complications, Nephrology, Internal medicine, mental disorders, Medicine, Stage (cooking), Metabolic syndrome, business, Kidney disease
Published
2014

17. MULTIPLE SPOT URINE SAMPLING IS MORE PRECISE, ACCURATE AND SIMPLE COMPARED TO 24 HOURS COLLECTION FOR ESTIMATING SODIUM EXCRETION

Author

Salice, G., primary, Ardissino, G., additional, Ghiglia, S., additional, Perrone, M., additional, Tel, F., additional, Mezzopane, A., additional, Piantanida, A., additional, Lettera, T., additional, Mehmeti, F., additional, Savina, P., additional, Grimaldi, G., additional, Xaiz, L., additional, Napolitano, F., additional, De Luca, F., additional, Giussani, A., additional, Cortinovis, L., additional, Milani, S., additional, and Consonni, D., additional

Published
2018
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18. PERCUTANEOUS APPROACH TO COMPLEX RENAL ARTERY STENOSES IN PEDIATRIC RENOVASCULAR HYPERTENSION

Author

Salice, P., primary, Mircoli, L., additional, Burdick, L., additional, Borzani, I., additional, Colombo, F., additional, Mastrangelo, A., additional, Ardissino, G., additional, Beretta, C., additional, Ughi, L., additional, Bacà, L., additional, Montani, C., additional, Ferraresso, M., additional, Montana, G., additional, and Lombardi, F., additional

Published
2018
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19. Estimating Time to ESRD in Children With CKD

Author

Furth, Susan L., primary, Pierce, Chris, additional, Hui, Wun Fung, additional, White, Colin A., additional, Wong, Craig S., additional, Schaefer, Franz, additional, Wühl, Elke, additional, Abraham, Alison G., additional, Warady, Bradley A., additional, Samuels, Joshua, additional, Furth, Susan, additional, Atkinson, Meredith, additional, Wilson, Amy, additional, Quiroga, Alejandro, additional, Massengill, Susan, additional, Selewski, Dave, additional, Ferris, Maria, additional, Kogon, Amy, additional, Kaskel, Frederick, additional, Lande, Marc, additional, Schwartz, George, additional, Saland, Jeffrey, additional, Norwood, Victoria, additional, Matoo, Tej, additional, Hidalgo, Guillermo, additional, Srivaths, Poyyapakkam, additional, Carlson, Joann, additional, Langman, Craig, additional, Mendley, Susan, additional, John, Eunice, additional, Upadhyay, Kiran, additional, Seo-Mayer, Patricia, additional, Patterson, Larry, additional, Parekh, Rulan, additional, Robinson, Lisa, additional, Weinstein, Adam, additional, Samsonov, Dmitry, additional, Kupferman, Juan, additional, Misurac, Jason, additional, Mongia, Anil, additional, Kiessling, Steffan, additional, Sanchez-Kazi, Cheryl, additional, Dart, Allison, additional, Fathallah, Sahar, additional, Claes, Donna, additional, Mitsnefes, Mark, additional, Blydt-Hansen, Tom, additional, Warady, Bradley, additional, Greenbaum, Larry, additional, Flynn, Joseph, additional, Wong, Craig, additional, Salusky, Isidro, additional, Yadin, Ora, additional, Dell, Katherine, additional, Jenkins, Randall, additional, Pan, Cynthia, additional, Ku, Elaine, additional, Al-Uzri, Amira, additional, Rodig, Nancy, additional, Wong, Cynthia, additional, Davis, Keefe, additional, Turman, Martin, additional, Bartosh, Sharon, additional, Hastings, Colleen, additional, Nayak, Anjali, additional, Seikaly, Mouin, additional, Benador, Nadine, additional, Mak, Robert, additional, Wood, Ellen, additional, Lerner, Gary, additional, Barletta, Gina Marie, additional, Anarat, A., additional, Bakkaloglu, A., additional, Ozaltin, F., additional, Peco-Antic, A., additional, Querfeld, U., additional, Gellermann, J., additional, Sallay, P., additional, Drożdż, D., additional, Bonzel, K.-E., additional, Wingen, A.-M., additional, Żurowska, A., additional, Balasz, I., additional, Trivelli, A., additional, Perfumo, F., additional, Müller-Wiefel, D.E., additional, Möller, K., additional, Offner, G., additional, Enke, B., additional, Wühl, E., additional, Hadtstein, C., additional, Mehls, O., additional, Schaefer, F., additional, Emre, S., additional, Caliskan, S., additional, Mir, S., additional, Wygoda, S., additional, Hohbach-Hohenfellner, K., additional, Jeck, N., additional, Klaus, G., additional, Ardissino, G., additional, Testa, S., additional, Montini, G., additional, Charbit, M., additional, Niaudet, P., additional, Caldas-Afonso, A., additional, Fernandes-Teixeira, A., additional, Dušek, J., additional, Matteucci, M.C., additional, Picca, S., additional, Mastrostefano, A., additional, Wigger, M., additional, Berg, U.B., additional, Celsi, G., additional, Fischbach, M., additional, Terzic, J., additional, Fydryk, J., additional, Urasinski, T., additional, Coppo, R., additional, Peruzzi, L., additional, Arbeiter, K., additional, Jankauskiené, A., additional, Grenda, R., additional, Litwin, M., additional, Janas, R., additional, and Neuhaus, T.J., additional

Published
2018
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20. Tandem plasmaferesi-emodialisi in bambini e giovani adulti

Author

Scarfia, R.V., primary, Paglialonga, F., additional, Ardissino, G., additional, Biasuzzi, A., additional, Bagnaschi, G., additional, Ballarino, A., additional, Frezzani, V., additional, Patricelli, M.G., additional, Sala, D., additional, Testa, S., additional, and Edefonti, A., additional

Published
2018
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21. Normal 25-Hydroxyvitamin D Levels Are Associated with Less Proteinuria and Attenuate Renal Failure Progression in Children with CKD

Author

Shroff R., Aitkenhead H., Costa N., Trivelli A., Litwin M., Picca S., Anarat A., Sallay P., Ozaltin F., Zurowska A., Jankauskiene A., Montini G., Charbit M., Schaefer F., Wühl E., Bakkaloglu A., Peco-Antic A., Querfeld U., Gellermann J., Drozdz D., Bonzel K.-E., Wingen A.-M., Balasz I., Perfumo F., Müller-Wiefel D.E., Möller K., Offner G., Enke B., Gimpel C., Mehls O., Emre S., Caliskan S., Mir S., Wygoda S., Hohbach-Hohenfellner K., Jeck N., Klaus G., Ardissino G., Testa S., Niaudet P., Caldas-Afonso A., Fernandes-Teixeira A., Duek J., Matteucci M.C., Mastrostefano A., Wigger M., Berg U.B., Celsi G., Fischbach M., Terzic J., Fydryk J., Urasinski T., Coppo R., Peruzzi L., Arbeiter K., Jankauskiené A., Grenda R., Janas R., Laube G., Neuhaus T.J., Çukurova Üniversitesi, Çocuk Sağlığı ve Hastalıkları, and Ege Üniversitesi

Subjects
Male, Vitamin, medicine.medical_specialty, Adolescent, Medizin, 030232 urology & nephrology, Diastole, Renal function, Angiotensin-Converting Enzyme Inhibitors, 030204 cardiovascular system & hematology, urologic and male genital diseases, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Clinical Research, Reference Values, Internal medicine, Renin–angiotensin system, medicine, Vitamin D and neurology, Humans, Renal Insufficiency, Renal Insufficiency, Chronic, Vitamin D, Child, Klotho, Retrospective Studies, Creatinine, Proteinuria, business.industry, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, General Medicine, Urology & Nephrology, ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS, Fibroblast Growth Factor-23, ComputingMethodologies_PATTERNRECOGNITION, Endocrinology, chemistry, Nephrology, Disease Progression, Female, InformationSystems_MISCELLANEOUS, medicine.symptom, business
Abstract

PubMed ID: 26069294, Angiotensin-converting enzyme inhibitors (ACEi) for renin-angiotensin-aldosterone system (RAAS) blockade are routinely used to slow CKD progression. However, Vitamin D may also promote renoprotection by suppressing renin transcription through cross-talk between RAAS and Vitamin D -fibroblast growth factor-23 (FGF-23)-Klotho pathways. To determine whether Vitamin D levels influence proteinuria and CKD progression in children, we performed a post hoc analysis of the Effect of Strict Blood Pressure Control and ACE Inhibition on Progression of CKD in Pediatric Patients (ESCAPE) cohort. In 167 children (median EGFR 51 ml/min per 1.73 m2), serum 25-hydroxyvitaminD(25(OH)D),FGF-23, andKlotho levelsweremeasuredatbaselineandafteramedian8months onACEi.Childrenwith lower 25(OH)D levels had higher urinary protein/creatinine ratios at baseline (P=0.03) and at follow-up (P=0.006). Levels of 25(OH)D and serum Vitamin D -binding protein were not associated, but 25(OH)D #50 nmol/L associated with higher diastolicBP(P=0.004).ACEi therapy alsoassociatedwith increasedKlotho levels (P

Published
2016

22. Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

Author

Gigante, M., Santangelo, L., Diella, S., Caridi, G., Argentiero, L., D'Alessandro, M. M., Martino, M., Stea, E. D., Ardissino, G., Carbone, V., Pepe, S., Scrutinio, D., Maringhini, S., Ghiggeri, G. M., Grandaliano, Giuseppe, Giordano, M., and Gesualdo, L.

Subjects
Adult, Male, Middle Aged, Nephrolithiasis, Pedigree, Cohort Studies, Nephrocalcinosis, Young Adult, CYP24A1, Italy, Hypercalcemia, Mutation, PTH, Child, Child, Preschool, Female, Humans, Vitamin D3 24-Hydroxylase, Settore MED/14 - NEFROLOGIA, Preschool
Abstract

Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercalcemia (IIH).We performed mutational screening of CYP24A1 gene in a cohort of 12 Italian patients: 8 children with nephrocalcinosis, hypercalcemia and PTH levels10 pg/ml and 4 adult patients with nephrolithiasis, mild hypercalcemia and PTH levels10 pg/ml from 11 unrelated Italian families. Clinical and biochemical data were collected. Genomic DNA was extracted from peripheral blood leucocytes using standard methods, and whole coding sequence of CYP24A1 gene was analysed in all patients and family members by polymerase chain reaction and direct sequencing. The potential pathogenicity of the newly identified missense mutations was evaluated by 3 different in silico approaches (Sorting Intolerant from Tolerant, Polyphen and Mutation Taster) and by comparative analysis in 14 different species using ClustalW software.CYP24A1 bi-allelic mutations were found in 8 individuals from 7 Italian families (7/11; 64%). Overall, 6 different CYP24A1 mutations, including one small deletion (p.Glu143del), 4 missense mutations (p.Leu148Pro; p.Arg396Trp; p.Pro503Leu; p.Glu383Gln) and one nonsense mutation (p.Tyr220*) were identified. Two out of 6 mutations (p.Tyr220* and p.Pro503Leu) were not previously described. Moreover, a new CYP24A1 variant was identified by genetic screening of asymptomatic controls.To the best of our knowledge, this is the first report of a CYP24A1 molecular analysis performed in an Italian cohort of adult and pediatric Italian patients. This study (1) confirms that CYP24A1 plays a causal role in some but not all cases of IIH (64%); (2) expands the spectrum of known CYP24A1 pathogenic mutations; (3) describes 2 hotspots detected in 50% of all Italian cases; and (4) emphasizes the importance of recognition and genetic diagnosis of CYP24A1 defects in infantile as well as adult hypercalcemia.

Published
2015

23. Best practice guidelines for idiopathic nephrotic syndrome: recommendations versus reality

Author

Pasini, A, Aceto, G, Ammenti, A, Ardissino, G, Azzolina, V, Bettinelli, A, Cama, E, Cantatore, S, Crisafi, A, Conti, G, D'Agostino, M, Dozza, A, Edefonti, A, Fede, Carmelo Mario, Groppali, E, Gualeni, C, Lavacchini, A, Lepore, M, Maringhini, S, Mariotti, P, Materassi, M, Mencarelli, F, Messina, G, Negri, A, Piepoli, M, Ravaglia, F, Simoni, A, Spagnoletta, L, Montini, G, and Chimenz, Roberto

Subjects
Nephrology, Male, Idiopathic nephrotic syndrome, Steroid regimen, Albumin infusion, Thromboembolic prophylaxis, Guidelines, medicine.medical_specialty, Pediatrics, Nephrotic Syndrome, Adolescent, Best practice, Alternative medicine, MEDLINE, Guidelines, Cohort Studies, Idiopathic nephrotic syndrome, Internal medicine, Medicine, Humans, Pediatrics, Perinatology, and Child Health, Albumin infusion, Practice Patterns, Physicians', Child, Retrospective Studies, Thromboembolic prophylaxis, business.industry, Infant, Retrospective cohort study, Clinical trial, Regimen, Steroid regimen, Child, Preschool, Pediatrics, Perinatology and Child Health, Practice Guidelines as Topic, Original Article, Female, business, Cohort study
Abstract

Background The optimal therapeutic regimen for managing childhood idiopathic nephrotic syndrome (INS) is still under debate. We have evaluated the choice of steroid regimen and of symptomatic treatment adopted by pediatricians and pediatric nephrologists in a large number of centers as the first step towards establishing a shared protocol Methods This was a multicenter, retrospective study. A total of 231 children (132 admitted to pediatric units) aged 6 months to

Published
2015

24. Outcomes from the International Society of Nephrology Hemolytic Uremic Syndromes International Forum

Author

Kavanagh, D., Ardissino, G., Brocklebank, V., Bouwmeester, R.N., Bagga, A., ter Heine, R., Johnson, S., Licht, C., Ma, A.L.T., Noris, M., Praga, M., Rondeau, E., Sinha, A., Smith, R.J.H., Sheerin, N.S., Trimarchi, H., Wetzels, J.F.M., Vivarelli, M., Van de Kar, N.C.A.J., Greenbaum, L.A., Lungu, Adrian Catalin, Żurowska, Aleksandra, Gerogianni, Alexandra, Durkan, Anne, Schijvens, Anne, Lapeyraque, Anne-Laure, Java, Anuja, Awan, Atif, Covella, Bianca, Dixon, Brad, El Sissy, Carine, Duinevel, Caroline, Maville, Christine, Turudic, Daniel, Karpman, Diana, Haffner, Dieter, Trembecka-Dubel, Elżbieta, Ozaltin, Fatih, Emma, Francesco, Schaefer, Franz, Kang, Hee Gyung, Trimarchi, Hernán, Trujillo, Hernando, Ulasi, Ifeoma, Ekwueme, Alex, Menne, Jan, Laurence, Jeffrey, Calado, Joaquim, Hofer, Johannes, Zuber, Julien, Oh, Jun, Bakar, Karmila Abu, Jackson, Kate Smith, Turudic, Daniel, Milosevic, Danko, Karpman, Diana, Trembecka-Dubel, Elżbieta, Ozaltin, Fatih, Emma, Francesco, Schaefer, Franz, Ariceta, Gema, Kang, Hee Gyung, Trimarchi, Hernán, Trujillo, Hernando, Ulasi, Ifeoma, Ekwueme, Alex, Menne, Jan, Laurence, Jeffrey, Calado, Joaquim, Claes, Kathleen J., Kaartinen, Kati, Alhasan, Khalid, Wijnsma, Kioa, van den Heuvel, L.P., Alconcher, Laura, Izabel de Holanda, Maria, Szczepańska, Maria, Meuleman, Marie-Sophie, Lemaire, Mathieu, Harris, Meredith, Michalopulos, Michael G., Malina, Michal, Józsi, Mihály, Stajić, Nataša, Isbel, Nicole, Walsh, Patrick, Coccia, Paula A., Ramachandran, Raja, Topaloglu, Rezan, Timmermans, Sjoerd A.M.E.G., Chauvet, Sophie, Levart, Tanja Kersnik, Seeman, Tomas, Tasic, Velibor, Tesař, Vladimír, Song, Wen-Chao, Zhang, Yuzhou, and Prohászka, Zoltán

Abstract

Hemolytic uremic syndromes (HUSs) are a heterogeneous group of conditions, only some of which are mediated by complement (complement-mediated HUS). We report the outcome of the 2023 International Society of Nephrology HUS International Forum where a global panel of experts considered the current state of the art, identified areas of uncertainty, and proposed optimal solutions. Areas of uncertainty and areas for future research included the nomenclature of HUS, novel complement testing strategies, identification of biomarkers, genetic predisposition to atypical HUS, optimal dosing and withdrawal strategies for C5 inhibitors, treatment of kidney transplant recipients, disparity of access to treatment, and the next generation of complement inhibitors in complement-mediated HUS. The current rationale for optimal patient management is described.

Published
2024
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25. Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome

Author

Greenbaum, L.A., Fila, M., Ardissino, G., Al-Akash, S.I., Evans, J., Henning, P., Lieberman, K.V., Maringhini, S., Pape, L., Rees, L., Kar, N.C. van de, Walle, J. Vande, Ogawa, M., Bedrosian, C.L., Licht, C., Greenbaum, L.A., Fila, M., Ardissino, G., Al-Akash, S.I., Evans, J., Henning, P., Lieberman, K.V., Maringhini, S., Pape, L., Rees, L., Kar, N.C. van de, Walle, J. Vande, Ogawa, M., Bedrosian, C.L., and Licht, C.

Abstract

Contains fulltext : 172400.pdf (Publisher’s version ) (Open Access), Atypical hemolytic uremic syndrome (aHUS) is caused by alternative complement pathway dysregulation, leading to systemic thrombotic microangiopathy (TMA) and severe end-organ damage. Based on 2 prospective studies in mostly adults and retrospective data in children, eculizumab, a terminal complement inhibitor, is approved for aHUS treatment. Here we prospectively evaluated efficacy and safety of weight-based dosing of eculizumab in eligible pediatric patients with aHUS in an open-label phase II study. The primary end point was complete TMA response by 26 weeks. Twenty-two patients (aged 5 months-17 years) were treated; 16 were newly diagnosed, 12 had no prior plasma exchange/infusion during current TMA symptomatology, 11 received baseline dialysis, and 2 had prior renal transplants. By week 26, 14 achieved a complete TMA response, 18 achieved hematologic normalization, and 16 had 25% or better improvement in serum creatinine. Plasma exchange/infusion was discontinued in all, and 9 of the 11 patients who required dialysis at baseline discontinued, whereas none initiated new dialysis. Eculizumab was well tolerated; no deaths or meningococcal infections occurred. Bone marrow failure, wrist fracture, and acute respiratory failure were reported as unrelated severe adverse events. Thus, our findings establish the efficacy and safety of eculizumab for pediatric patients with aHUS and are consistent with proposed immediate eculizumab initiation following diagnosis in children.

Published
2016

26. Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

Author

Gigante, M., Santangelo, L., Diella, S., Caridi, G., Argentiero, L., D''Alessandro, M. M., Martino, M., Stea, E. D., Ardissino, G., Carbone, V., Pepe, S., Scrutinio, D., Maringhini, S., Ghiggeri, G. M., Grandaliano, Giuseppe, Giordano, M., Gesualdo, L., Grandaliano G. (ORCID:0000-0003-1213-2177), Gigante, M., Santangelo, L., Diella, S., Caridi, G., Argentiero, L., D''Alessandro, M. M., Martino, M., Stea, E. D., Ardissino, G., Carbone, V., Pepe, S., Scrutinio, D., Maringhini, S., Ghiggeri, G. M., Grandaliano, Giuseppe, Giordano, M., Gesualdo, L., and Grandaliano G. (ORCID:0000-0003-1213-2177)

Abstract

Background/Aims: Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercal-cemia (IIH). Methods: We performed mutational screeningof CYP24A1 gene in a cohort of 12 Italian patients: 8 children ith nephrocalcinosis, hypercalcemia and PTH levels <10 pg/ml and 4 adult patients with nephrolithiasis, mild hypercalcemia and PTH levels <10 pg/ml from 11 unrelated Italian families. Clinical and biochemical data were collected. Genomic DNA was extracted from peripheral blood leucocytes using standard methods, and whole coding sequence of CYP24A1 gene was analysed in all patients and family membersby polymerase chain reaction and direct sequencing. The potential pathogenicity of the newly identified missense mutations was evaluated by 3 different in silico approaches(Sorting Intolerant from Tolerant, Polyphen and Mutation Taster) and by comparative analysis in 14 different species using ClustalW software. Results: CYP24A1 bi-allelic muta

Published
2016

34. Tandem plasmaferesi-emodialisi in bambini e giovani adulti

Author

Scarfia, R.V., primary, Paglialonga, F., additional, Ardissino, G., additional, Biasuzzi, A., additional, Bagnaschi, G., additional, Ballarino, A., additional, Frezzani, V., additional, Patricelli, M.G., additional, Sala, D., additional, Testa, S., additional, and Edefonti, A., additional

Published
2011
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35. AGE-DEPENDENT DIFFERENCES IN OFFICE (OBP) VS AMBULATORY BLOOD PRESSURE MONITORING (ABPM) IN HYPERTENSIVE CHILDREN AND ADOLESCENTS: 8C.03

Author

Salice, P, primary, Ardissino, G, additional, Zanchetti, A, additional, Ghiglia, S, additional, Colli, AM, additional, Galli, MA, additional, Testa, S, additional, Marra, G, additional, Baca’, L, additional, Li Vecchi, D, additional, Edefonti, A, additional, Magrini, F, additional, and Danzi, GB, additional

Published
2010
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36. Metabolic Factors in Renal Response to Amino Acid Infusion

Author

Claris-Appiani, A., Ardissino, G., Tirelli, A.S., Dacco', V., Testa, S., Corbetta, C., Guidi, L., Moretto, E., Assael, B.M., Sereni, F., Claris-Appiani, A., Ardissino, G., Tirelli, A.S., Dacco', V., Testa, S., Corbetta, C., Guidi, L., Moretto, E., Assael, B.M., and Sereni, F.

Abstract

No abstract, non disponibile

Published
1999

45. Metabolic factors in the renal response to amino acid infusion.

Author

Claris-Appiani, Aldo, Ardissino, Gianluigi, Tirelli, Amedea S., Daccò, Valeria, Corbetta, Carlo, Guidi, Laura, Moretto, Eugenia, Assael, Baroukh M., Sereni, Fabio, Claris-Appiani, A, Ardissino, G, Tirelli, A S, Daccò, V, Corbetta, C, Guidi, L, Moretto, E, Assael, B M, and Sereni, F

Published
1998
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46. No Difference in Intestinal Strontium Absorption After an Oral or an Intravenous 1,25(OH)2D3bolus in Normal Subjects

Author

Bianchi, M. L., Ardissino, G. L., Schmitt, C. P., Daccó, V., Barletta, L., Claris‐Appiani, A., and Mehls, O.

Abstract

It has been suggested that 1,25‐dihydroxyvitamin D3(1,25(OH)2D3) stimulates intestinal calcium absorption less via the intravenous (iv) than the oral route, because the first avoids direct contact of the drug with the enterocytes. However, no study has addressed the issue directly. This investigation was designed to measure the effect of a single oral or iv dose of 1,25(OH)2D3on calcium absorption, using stable strontium (Sr) as a surrogate for calcium, and measuring the Sr fractional absorbed dose (FAD%) over 240 minutes after Sr administration. In 10 healthy volunteers, five tests were performed in a cross‐over design, with a wash‐out period between two consecutive tests: Sr absorption without 1,25(OH)2D3(test A); Sr absorption immediately after either oral (test B) or iv (test C) 1,25(OH)2D3(1.5 μg/m2of body surface area [BSA]); Sr absorption (24 hr after either oral (test D) or iv (test E) 1,25(OH)2D3(1.5 μg/m2BSA). The concurrent administration of 1,25(OH)2D3and Sr (tests B and C) did not significantly change the area under the Sr FAD%–time curve with respect to test A (test A: 4090 ± 345; test B: 4510 ± 345; test C: 4210 ± 345), whereas Sr absorption was significantly increased (p< 0.001) when Sr was given 24 hr after either oral or iv 1,25(OH)2D3(test D: 5710 ± 345; test E: 5510 ± 345). It was concluded that 1,25(OH)2D3is likely to influence calcium absorption significantly only via its genomic effect, independent of its administration route.

Published
1999
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