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1. Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis Nephritis

Author

Barbour, S, Coppo, R, Er, L, Pillebout, E, Russo, M, Alpers, C, Fogo, A, Ferrario, F, Jennette, J, Roberts, I, Cook, H, Ding, J, Su, B, Zhong, X, Fervenza, F, Zand, L, Peruzzi, L, Lucchetti, L, Katafuchi, R, Shima, Y, Yoshikawa, N, Ichikawa, D, Suzuki, Y, Murer, L, Wyatt, R, Nelson, R, Narus, J, Wenderfer, S, Geetha, D, Daugas, E, Monteiro, R, Nakatani, S, Mastrangelo, A, Nuutinen, M, Koskela, M, Weber, L, Hackl, A, Pohl, M, Pecoraro, C, Tsuboi, N, Yokoo, T, Takafumi, I, Fujimoto, S, Conti, G, Santoro, D, Materassi, M, Zhang, H, Shi, S, Liu, Z, Tesar, V, Maixnerova, D, Avila-Casado, C, Bajema, I, Barreca, A, Becker, J, Comstock, J, Cornea, V, Eldin, K, Hernandez, L, Hou, J, Joh, K, Lin, M, Messias, N, Muda, A, Pagni, F, Diomedi-Camassei, F, Tokola, H, D’Armiento, M, Seidl, M, Rosenberg, A, Sannier, A, Soares, M, Wang, S, Zeng, C, Haas, M, Barbour, Sean J., Coppo, Rosanna, Er, Lee, Pillebout, Evangeline, Russo, Maria Luisa, Alpers, Charles E., Fogo, Agnes B., Ferrario, Franco, Jennette, J. Charles, Roberts, Ian S. D., Cook, H. Terence, Ding, Jie, Su, Baige, Zhong, Xuhui, Fervenza, Fernando C., Zand, Ladan, Peruzzi, Licia, Lucchetti, Laura, Katafuchi, Ritsuko, Shima, Yuko, Yoshikawa, Norishige, Ichikawa, Daisuke, Suzuki, Yusuke, Murer, Luisa, Wyatt, Robert J., Nelson, Raoul D., Narus, JoAnn H., Wenderfer, Scott, Geetha, Duvuru, Daugas, Eric, Monteiro, Renato C., Nakatani, Shinya, Mastrangelo, Antonio, Nuutinen, Matti, Koskela, Mikael, Weber, Lutz T, Hackl, Agnes, Pohl, Martin, Pecoraro, Carmine, Tsuboi, Nobuo, Yokoo, Takashi, Takafumi, Ito, Fujimoto, Shouichi, Conti, Giovanni, Santoro, Domenico, Materassi, Marco, Zhang, Hong, Shi, Sufang, Liu, Zhi-Hong, Tesar, Vladimir, Maixnerova, Dita, Avila-Casado, Carmen, Bajema, Ingeborg, Barreca, Antonella, Becker, Jan U., Comstock, Jessica M., Cornea, Virgilius, Eldin, Karen, Hernandez, Loren Herrera, Hou, Jean, Joh, Kensuke, Lin, Mercury, Messias, Nidia, Muda, Andrea Onetti, Pagni, Fabio, Diomedi-Camassei, Francesca, Tokola, Heikki, D’Armiento, Maria, Seidl, Maximilian, Rosenberg, Avi, Sannier, Aurélie, Soares, Maria Fernanda, Wang, Suxia, Zeng, Caihong, Haas, Mark, Barbour, S, Coppo, R, Er, L, Pillebout, E, Russo, M, Alpers, C, Fogo, A, Ferrario, F, Jennette, J, Roberts, I, Cook, H, Ding, J, Su, B, Zhong, X, Fervenza, F, Zand, L, Peruzzi, L, Lucchetti, L, Katafuchi, R, Shima, Y, Yoshikawa, N, Ichikawa, D, Suzuki, Y, Murer, L, Wyatt, R, Nelson, R, Narus, J, Wenderfer, S, Geetha, D, Daugas, E, Monteiro, R, Nakatani, S, Mastrangelo, A, Nuutinen, M, Koskela, M, Weber, L, Hackl, A, Pohl, M, Pecoraro, C, Tsuboi, N, Yokoo, T, Takafumi, I, Fujimoto, S, Conti, G, Santoro, D, Materassi, M, Zhang, H, Shi, S, Liu, Z, Tesar, V, Maixnerova, D, Avila-Casado, C, Bajema, I, Barreca, A, Becker, J, Comstock, J, Cornea, V, Eldin, K, Hernandez, L, Hou, J, Joh, K, Lin, M, Messias, N, Muda, A, Pagni, F, Diomedi-Camassei, F, Tokola, H, D’Armiento, M, Seidl, M, Rosenberg, A, Sannier, A, Soares, M, Wang, S, Zeng, C, Haas, M, Barbour, Sean J., Coppo, Rosanna, Er, Lee, Pillebout, Evangeline, Russo, Maria Luisa, Alpers, Charles E., Fogo, Agnes B., Ferrario, Franco, Jennette, J. Charles, Roberts, Ian S. D., Cook, H. Terence, Ding, Jie, Su, Baige, Zhong, Xuhui, Fervenza, Fernando C., Zand, Ladan, Peruzzi, Licia, Lucchetti, Laura, Katafuchi, Ritsuko, Shima, Yuko, Yoshikawa, Norishige, Ichikawa, Daisuke, Suzuki, Yusuke, Murer, Luisa, Wyatt, Robert J., Nelson, Raoul D., Narus, JoAnn H., Wenderfer, Scott, Geetha, Duvuru, Daugas, Eric, Monteiro, Renato C., Nakatani, Shinya, Mastrangelo, Antonio, Nuutinen, Matti, Koskela, Mikael, Weber, Lutz T, Hackl, Agnes, Pohl, Martin, Pecoraro, Carmine, Tsuboi, Nobuo, Yokoo, Takashi, Takafumi, Ito, Fujimoto, Shouichi, Conti, Giovanni, Santoro, Domenico, Materassi, Marco, Zhang, Hong, Shi, Sufang, Liu, Zhi-Hong, Tesar, Vladimir, Maixnerova, Dita, Avila-Casado, Carmen, Bajema, Ingeborg, Barreca, Antonella, Becker, Jan U., Comstock, Jessica M., Cornea, Virgilius, Eldin, Karen, Hernandez, Loren Herrera, Hou, Jean, Joh, Kensuke, Lin, Mercury, Messias, Nidia, Muda, Andrea Onetti, Pagni, Fabio, Diomedi-Camassei, Francesca, Tokola, Heikki, D’Armiento, Maria, Seidl, Maximilian, Rosenberg, Avi, Sannier, Aurélie, Soares, Maria Fernanda, Wang, Suxia, Zeng, Caihong, and Haas, Mark

Abstract

BACKGROUND: Nephritis is a common manifestation of IgA vasculitis and is morphologically indistinguishable from IgA nephropathy. While MEST-C scores are predictive of kidney outcomes in IgA nephropathy, their value in IgA vasculitis nephritis has not been investigated in large multiethnic cohorts. METHODS: Biopsies from 262 children and 99 adults with IgA vasculitis nephritis ( N =361) from 23 centers in North America, Europe, and Asia were independently scored by three pathologists. MEST-C scores were assessed for correlation with eGFR/proteinuria at biopsy. Because most patients ( N =309, 86%) received immunosuppression, risk factors for outcomes were evaluated in this group using latent class mixed models to identify classes of eGFR trajectories over a median follow-up of 2.7 years (interquartile range, 1.2-5.1). Clinical and histologic parameters associated with each class were determined using logistic regression. RESULTS: M, E, T, and C scores were correlated with either eGFR or proteinuria at biopsy. Two classes were identified by latent class mixed model, one with initial improvement in eGFR followed by a late decline (class 1, N =91) and another with stable eGFR (class 2, N =218). Class 1 was associated with a higher risk of an established kidney outcome (time to ≥30% decline in eGFR or kidney failure; hazard ratio, 5.84; 95% confidence interval, 2.37 to 14.4). Among MEST-C scores, only E1 was associated with class 1 by multivariable analysis. Other factors associated with class 1 were age 18 years and younger, male sex, lower eGFR at biopsy, and extrarenal noncutaneous disease. Fibrous crescents without active changes were associated with class 2. CONCLUSIONS: Kidney outcome in patients with biopsied IgA vasculitis nephritis treated with immunosuppression was determined by clinical risk factors and endocapillary hypercellularity (E1) and fibrous crescents, which are features that are not part of the International Study of Diseases of Children classificatio

Published
2024

2. Variability of diagnostic criteria and treatment of idiopathic nephrotic syndrome across European countries

Author

Deschênes, Georges, Vivarelli, Marina, Peruzzi, Licia, Alpay, H., Alvaro Madrid, A., Andersen, R., Bald, M., Benetti, E., Berard, E., Bockenhauer, D., Boyer, O., Brackman, D., Dossier, C., Ekinci, Z., Emma, F., Enneman, B., Espinosa-Roman, L., Fila, M., Ghio, L., Groothoff, J. W., Guigonis, V., Jankauskiene, A., Kagan, M., Kovacevic, M., Kemper, M. J., Levtchenko, E., Maringhini, S., Mir, S., Mitsioni, A., Mizerska-Wasiak, M., Wasiak, K., Moczulska, A., Montini, G., Murer, L., Nuutinen, M., Obukhova, V., Oh, J., Ozkaya, O., Papalia, T., Peco Antic, A., Pecoraro, C., Pena-Carrion, A., Petrossian, E., Pietrement, C., Prikhodina, L., Querfeld, U., Rittig, S., Saleem, M. A., Saraga, M., Savenkova, N., Sever, L., Tullus, K., Ulinski, T., Vande Walle, J., Vara, J., Webb, N., Weber, L. T., Zurowska, A., and On behalf of the ESPN Working Group on Idiopathic Nephrotic Syndrome

Published
2017
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4. Post-transplant recurrence of steroid resistant nephrotic syndrome in children: the Italian experience

Author

Morello, W, Puvinathan, S, Puccio, G, Ghiggeri, G, Dello Strologo, L, Peruzzi, L, Murer, L, Cioni, M, Guzzo, I, Cocchi, E, Benetti, E, Testa, S, Ghio, L, Caridi, G, Cardillo, M, Torelli, R, Montini, G, Morello, William, Puvinathan, Sairaj, Puccio, Giuseppe, Ghiggeri, Gian Marco, Dello Strologo, Luca, Peruzzi, Licia, Murer, Luisa, Cioni, Michela, Guzzo, Isabella, Cocchi, Enrico, Benetti, Elisa, Testa, Sara, Ghio, Luciana, Caridi, Gianluca, Cardillo, Massimo, Torelli, Rosanna, Montini, Giovanni, Morello, W, Puvinathan, S, Puccio, G, Ghiggeri, G, Dello Strologo, L, Peruzzi, L, Murer, L, Cioni, M, Guzzo, I, Cocchi, E, Benetti, E, Testa, S, Ghio, L, Caridi, G, Cardillo, M, Torelli, R, Montini, G, Morello, William, Puvinathan, Sairaj, Puccio, Giuseppe, Ghiggeri, Gian Marco, Dello Strologo, Luca, Peruzzi, Licia, Murer, Luisa, Cioni, Michela, Guzzo, Isabella, Cocchi, Enrico, Benetti, Elisa, Testa, Sara, Ghio, Luciana, Caridi, Gianluca, Cardillo, Massimo, Torelli, Rosanna, and Montini, Giovanni

Abstract

Background: Steroid resistant nephrotic syndrome (SRNS) is a frequent cause of end stage renal disease in children and post-transplant disease recurrence is a major cause of graft loss. Methods: We identified all children with SRNS who underwent renal transplantation in Italy, between 2005 and 2017. Data were retrospectively collected for the presence of a causative gene mutation, sex, histology, duration of pre-transplant dialysis, age at onset and transplant, HLA matching, recurrence, therapy for recurrence, and graft survival. Results: 101 patients underwent a first and 22 a second renal transplant. After a median follow-up of 58.5 months, the disease recurred on the first renal transplant in 53.3% of patients with a non-genetic and none with a genetic SRNS. Age at transplant > 9 years and the presence of at least one HLA-AB match were independent risk factors for recurrence. Duration of dialysis was longer in children with relapse, but did not reach statistical significance. Overall, 24% of patients lost the first graft, with recurrence representing the commonest cause. Among 22 patients who underwent a second transplant, 5 suffered of SRNS recurrence. SRNS relapsed in 5/9 (55%) patients with disease recurrence in their first transplant and 2 of them lost the second graft. Conclusions: Absence of a causative mutation represents the major risk factor for post-transplant recurrence in children with SRNS, while transplant can be curative in genetic SRNS. A prolonged time spent on dialysis before transplantation has no protective effect on the risk of relapse and should not be encouraged. Retransplantation represents a second chance after graft loss for recurrence.

Published
2020

9. Successful renal transplantation in children under 6 years of age

Author

Dall'Amico, R., Ginevri, F., Ghio, L., Murer, L., Perfumo, F., Zanon, G. F., Berardinelli, L., Basile, G., Edefonti, A., Garavaglia, R., Damiani, B., Valente, U., Fontana, I., Bertipaglia, M., Cardillo, M., Scalamogna, M., and Zacchello, G.

Subjects
Immunosuppression -- Research, Kidneys -- Transplantation, Kidneys -- Case studies, Children -- Diseases, Children -- Case studies
Abstract

Byline: R. Dall'Amico (1), F. Ginevri (2), L. Ghio (3), L. Murer (1), F. Perfumo (2), G. F. Zanon (1), L. Berardinelli (4), G. Basile (2), A. Edefonti (3), R. Garavaglia (3), B. Damiani (3), U. Valente (5), I. Fontana (5), M. Bertipaglia (1), M. Cardillo (6), M. Scalamogna (6), G. Zacchello (1) Keywords: KeywordsaRenal transplantation; Rejection; Growth; Thrombosis; Immunosuppression; Infections Abstract: To evaluate the efficacy of renal transplan- tation in small pediatric patients, we have reviewed 41 allografts performed in 39 children (28 M/11 F) less than 6 years of age between 1987 and 1998 in the North Italy Transplant Program. Of these patients, 39 had a cadaver donor and 2 a living-related donor, with ages ranging from 20 days to 35 years. The mean follow-up was 56 months. Graft survival was 74.5% and 70.5% at 1 and 5 years, respectively. The causes of graft lost were acute rejection (4), graft vascular thrombosis (4), and hemolytic uremic syndrome recurrence (1). Only 1 patient has died due to chickenpox. Double and triple immunosuppressive therapies were used in 63% and 37% of patients, respectively, on the basis of different center protocols, without differences in graft survival. Steroids were successfully administered on alternate days in 37% of patients, 6--12 months after transplantation. Thrombosis was reported in 2 of 6 kidneys from donors less than 1 year of age and in 2 of 35 donors older than 1 year (P&lt 0.05). Thirty rejections occurred in 23 patients: 7 episodes were steroid resistant and were treated with ATG/OKT3. Thirty-four infections were reported in 16 of 41 patients of these 17 were viral, 14 bacterial, and 3 due to Mycoplasma. Four surgical complications were reported: 1 graft artery stenosis, 1 ureteral stenosis, 1 urinary leak, and 1 lymphocele. Mean height standard deviation score improved from --2.0+-1.3 pre transplantation to --1.8+-1.4, --1.5+-1.3, and --1.5+-1.5 at 1, 2, and 5 years post transplantation. Linear growth was significantly better in infants treated with alternate-day steroids. Hypertension was a frequent complication, since 19 of the 30 patients with a 5-year follow-up were still being treated with antihypertensive drugs. In conclusion, graft survival in patients less than 6 years old is satisfactory and similar to that obtained in children aged from 6 to 18 years (70.5% vs. 78.9% at 5 years, P=NS). Consequently, since there are many difficulties in managing infants on maintenance dialysis, an early transplant should be considered. Donors older than 24 months carry a low risk of vascular thrombosis and may be successfully grafted in infants. Author Affiliation: (1) Department of Pediatrics, University of Padua, Via Giustiniani 3, 35128 Padua, Italy e-mail: roberto@child.pedi.unipd.it Tel.: +39-049-821-3505, Fax: +39-049-821-3509, IT (2) Department of Nephrology, Institute Gaslini, Genoa, Italy, IT (3) Department of Pediatrics, University of Milan, Milan, Italy, IT (4) Department of Vascular Surgery and Kidney Transplantation, Maggiore Hospital, Milan, Italy, IT (5) Department of Transplantation, S. Martino Hospital, University of Genoa, Genoa, Italy, IT (6) North Italia Transplant, Milan, Italy, IT Article note: Received: 10 December 1999 / Revised: 31 July 2000 / Accepted: 25 August 2000

Published
2001
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14. The European Society for Paediatric Nephrology study of pediatric renal care in Europe: comparative analysis 1998-2017

Author

Hoyer, P., Simao, C., Stefanidis, C. J., Tasic, V, Toots, U., Tur, N., Walle, J., Zurowska, A., Bjerre, A., Brandstrom, P., Chafai, R., Lotan, D., Davitaia, T., Dlin, V, Golubovic, E., Hadjipanayis, A., Shroff, Rukshana, Bakkaloglu, SEVCAN AZİME, Prikhodina, Larisa, Ehrich, Jochen, Shtiza, D., Hughes, D. A., Ivanov, D., Jankauskiene, A., Kamperis, K., Levart, Kersnik T., Laube, G., TOPALOĞLU, REZAN, Lungu, A., Milosevic, D., Levtchenko, Elena, Anton-Gamero, M., Arikoski, P., Aufricht, C., Awan, A., Baylarov, R., Murer, L., Nigmatullina, N., Podraska, L., Pokrajac, D., Reusz, G. S., Roussey, G., Roussinov, D., Conti, Said, Sarkissian, A., Schreuder, M., and Seeman, T.

Subjects
Nephrology, medicine.medical_specialty, Adolescent, 030232 urology & nephrology, Allied Health Personnel, 030204 cardiovascular system & hematology, Subspecialty, Pediatrics, Health Services Accessibility, Nephrologists, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Surveys and Questionnaires, medicine, Humans, Healthcare Disparities, Child, Health policy, Kidney transplantation, Societies, Medical, Kidney, business.industry, Acute kidney injury, medicine.disease, Europe, medicine.anatomical_structure, Family medicine, Pediatrics, Perinatology and Child Health, Kidney Diseases, business, Psychosocial, Kidney disease, Follow-Up Studies
Abstract

Background In 1998, a survey of the European Society for Paediatric Nephrology (ESPN) revealed substantial disparities in pediatric renal care among European countries. Therefore, ESPN aimed at harmonizing renal care in all European countries in the following 20 years. In 2017, we conducted a survey to evaluate the current status of renal health policies for children in Europe. Methods A 33-question web-based survey was designed and sent to presidents or representatives of national societies of pediatric nephrology in 44 European countries. Results Data was reported from 42 (95.5%) countries. The number of pediatric nephrologists per million child population increased from 1998 to 2017 in 70% of countries. Pediatric dialysis facilities for acute kidney injury and end-stage kidney disease were available in 95% of countries. The availability of pediatric kidney transplantation increased from 55 to 93% of countries. Considerable variation was found in the current availability of allied health professionals, including psychosocial and nutritional support, high-tech diagnostic methods, and treatment with expensive drugs for children with kidney diseases between different European countries. Conclusions The 20-year follow-up analysis of pediatric renal care services in European countries revealed that pediatric nephrology has become a well-established subspecialty in pediatrics and nephrology in 2017. The ESPN will continue its efforts to further improve pediatric renal care for European children by harmonizing remaining disparities of renal care services.

Published
2019

15. Clinical practice recommendations for growth hormone treatment in children with chronic kidney disease

Author

Drube, Jens, Wan, Mandy, Bonthuis, Marjolein, Wuhl, Elke, Bacchetta, Justine, Santos, Fernando, Grenda, Ryszard, Edefonti, Alberto, Harambat, Jerome, Shroff, Rukshana, Tonshoff, Burkhard, Haffner, Dieter, Schnabel, D, Linglart, A, Rees, L, Cochat, P, Brauner, C, Renault, D, Romano, LN, Colling, G, Prytula, A, Leifheit-Nestler, M, Klaus, G, Schmitt, CP, Stabouli, S, Reusz, G, Verrina, E, Groothoff, J, Anton-Gamero, M, Petrosyan, E, Bakkaloglu, SA, Dursun, I, Booth, C, Aufricht, C, Vande Walle, J, Vondrak, K, Holtta, T, Ranchin, B, Fischbach, M, Stefanidis, C, Kyriakou, A, Printza, N, Paglialonga, F, Vidal, E, Allinovi, M, Jankauskiene, A, Zurowska, A, Faria, M Do Sameiro, Ariceta, G, Sartz, L, Bakkaloglu, S, Bayazit, AK, Duzova, A, Knops, N, Raees, A, Zieg, J, Pape, L, Melk, A, Dello, L, Guzzo, I, Ghio, L, Murer, L, Peruzzi, L, Bouts, A, Cornelissen, M, Lopez-Baez, Victor, Soylemezoglu, O, Topaloglu, R, Christian, M, Marks, S, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinicum, HUS Children and Adolescents, Helsinki University Hospital Area, Lastentautien yksikkö, Children's Hospital, and Çukurova Üniversitesi

Subjects
0301 basic medicine, PREPUBERTAL CHILDREN, Pediatrics, medicine.medical_treatment, 030232 urology & nephrology, Growth disorders, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, 0302 clinical medicine, Quality of life, QUALITY-OF-LIFE, 3123 Gynaecology and paediatrics, Chronic kidney disease, Child, ADULT HEIGHT, Human Growth Hormone, Immunosuppression, Urology & Nephrology, DOUBLE-BLIND TRIAL, 3. Good health, Growth hormone treatment, Nephrology, Child, Preschool, medicine.symptom, Life Sciences & Biomedicine, medicine.medical_specialty, CATCH-UP GROWTH, Short stature, 03 medical and health sciences, REPLACEMENT THERAPY, Renal Dialysis, medicine, Humans, Renal Insufficiency, Chronic, SHORT STATURE, Dialysis, LONG-TERM GROWTH, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Science & Technology, Paediatric kidney disease, PEDIATRIC-PATIENTS, business.industry, Consensus Statement, Guideline, medicine.disease, 3126 Surgery, anesthesiology, intensive care, radiology, Kidney Transplantation, Hormones, Transplantation, 030104 developmental biology, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, CHRONIC-RENAL-FAILURE, business, Kidney disease
Abstract

Achieving normal growth is one of the most challenging problems in the management of children with chronic kidney disease (CKD). Treatment with recombinant human growth hormone (GH) promotes longitudinal growth and likely enables children with CKD and short stature to reach normal adult height. Here, members of the European Society for Paediatric Nephrology (ESPN) CKD–Mineral and Bone Disorder (MBD), Dialysis and Transplantation working groups present clinical practice recommendations for the use of GH in children with CKD on dialysis and after renal transplantation. These recommendations have been developed with input from an external advisory group of paediatric endocrinologists, paediatric nephrologists and patient representatives. We recommend that children with stage 3–5 CKD or on dialysis should be candidates for GH therapy if they have persistent growth failure, defined as a height below the third percentile for age and sex and a height velocity below the twenty-fifth percentile, once other potentially treatable risk factors for growth failure have been adequately addressed and provided the child has growth potential. In children who have received a kidney transplant and fulfil the above growth criteria, we recommend initiation of GH therapy 1 year after transplantation if spontaneous catch-up growth does not occur and steroid-free immunosuppression is not a feasible option. GH should be given at dosages of 0.045–0.05 mg/kg per day by daily subcutaneous injections until the patient has reached their final height or until renal transplantation. In addition to providing treatment recommendations, a cost-effectiveness analysis is provided that might help guide decision-making., This Evidence-Based Guideline developed by members of the European Society for Paediatric Nephrology CKD-MBD, Dialysis and Transplantation working groups presents clinical practice recommendations for the use of growth hormone in children with chronic kidney disease on dialysis and after renal transplantation.

Published
2019

17. Treatment and long-term outcome in primary distal renal tubular acidosis

Author

Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, and Blanchard A

Subjects
Acidosis, Renal Tubular/complications/genetics/*therapy, Adolescent, Adult, Aged, Bicarbonates/blood, Calcium/urine, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Deafness/complications/genetics/therapy, Female, Genetic Association Studies, Glomerular Filtration Rate, Hearing Loss, Sensorineural/complications/genetics/*therapy, Humans, Infant, Infant, Newborn, Male, Middle Aged, Mutation, Nephrocalcinosis/complications/genetics/therapy, Rare Diseases/complications, Vacuolar P
Abstract

BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. RESULTS: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (±1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. CONCLUSION: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.

Published
2019

18. ADPedKD: A Global Online Platform on the Management of Children With

Author

De Rechter, S, Bockenhauer, D, Guay-Woodford, LM, Liu, I, Mallett, AJ, Soliman, NA, Sylvestre, LC, Schaefer, F, Liebau, MC, Mekahli, D, Adamczyk, P, Akinci, N, Alpay, H, Ardelean, C, Ayasreh, N, Aydin, Z, Bael, A, Baudouin, V, Bayrakci, US, Bensman, A, Bialkevich, H, Biebuyck, A, Boyer, O, Bjanid, O, Brylka, A, Caliskan, S, Cambier, A, Camelio, A, Carbone, V, Charbit, M, Chiodini, B, Chirita, A, Cicek, N, Cerkauskiene, R, Collard, L, Conceicao, M, Constantinescu, I, Couderc, A, Crapella, B, Cvetkovic, M, Dima, B, Diomeda, F, Docx, M, Dolan, N, Dossier, C, Drozdz, D, Drube, J, Dunand, O, Dusan, P, Eid, LA, Emma, F, Hernandez, ME, Fila, M, Furlano, M, Gafencu, M, Ghuysen, M, Giani, M, Giordano, M, Girisgen, I, Godefroid, N, Godron-Dubrasquet, A, Gojkovic, I, Gonzalez, E, Gokce, I, Groothoff, JW, Guarino, S, Guffens, A, Hansen, P, Harambat, J, Haumann, S, He, G, Heidet, L, Helmy, R, Hemery, F, Hooman, N, Ilanas, B, Jankauskiene, A, Janssens, P, Karamaria, S, Kazyra, I, Koenig, J, Krid, S, Krug, P, Kwon, V, La Manna, A, Leroy, V, Litwin, M, Lombet, J, Longo, G, Lungu, AC, Mallawaarachchi, A, Marin, A, Marzuillo, P, Massella, L, Mastrangelo, A, McCarthy, H, Miklaszewska, M, Moczulska, A, Montini, G, Morawiec-Knysak, A, Morin, D, Murer, L, Negru, I, Nobili, F, Obrycki, L, Otoukesh, H, Ozcan, S, Pape, L, Papizh, S, Parvex, P, Pawlak-Bratkowska, M, Prikhodina, L, Prytula, A, Quinlan, C, Raes, A, Ranchin, B, Ranguelov, N, Repeckiene, R, Ronit, C, Salomon, R, Santagelo, R, Saygili, SK, Schaefer, S, Schreuder, M, Schurmans, T, Seeman, T, Segers, N, Sinha, M, Snauwaert, E, Spasojevic, B, Stabouli, S, Stoica, C, Stroescu, R, Szczepanik, E, Szczepanska, M, Taranta-Janusz, K, Teixeira, A, Thumfart, J, Tkaczyk, M, Torra, R, Torres, D, Tram, N, Utsch, B, Vande Walle, J, Vieux, R, Vitkevic, R, Wilhelm-Bals, A, Wuhl, E, Yildirim, ZY, Yuksel, S, and Zachwieja, K

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease. C1 [De Rechter, Stephanie; Mekahli, Djalila] Univ Hosp Leuven, Dept Pediat Nephrol, Herestr 49, B-3000 Leuven, Belgium. [De Rechter, Stephanie; Mekahli, Djalila] Katholieke Univ Leuven, Dept Dev & Regenerat, PKD Res Grp, Leuven, Belgium. [Bockenhauer, Detlef] UCL Ctr Nephrol, London, England. [Bockenhauer, Detlef] Great Ormond St Hosp NHS Fdn Trust, London, England. [Guay-Woodford, Lisa M.] Childrens Natl Hlth Syst, Ctr Translat Sci, Washington, DC USA. [Liu, Isaac] Natl Univ Hlth Syst, Khoo Teck Puat Natl Univ, Childrens Med Inst, Singapore, Singapore. [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Kidney Hlth Serv, Brisbane, Qld, Australia. [Mallett, Andrew J.] Royal Brisbane & Womens Hosp, Conjoint Renal Res Lab, Brisbane, Qld, Australia. [Mallett, Andrew J.] Univ Queensland, Fac Med, Brisbane, Qld, Australia. [Mallett, Andrew J.] Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia. [Mallett, Andrew J.] KidGen Collaborat & Australian Genom Hlth Allianc, Melbourne, Vic, Australia. [Soliman, Neveen A.] Cairo Univ, Ctr Pediat Nephrol & Transplantat, Kasr Al Ainy Sch Med, Dept Pediat, Cairo, Egypt. [Sylvestre, Lucimary C.] Hosp Pequeno Principe, Curitiba, Parana, Brazil. [Schaefer, Franz] Heidelberg Univ, Ctr Pediat & Adolescent Med, Div Pediat Nephrol, Med Ctr, Heidelberg, Germany. [Liebau, Max C.] Univ Hosp Cologne, Dept Pediat, Cologne, Germany. [Liebau, Max C.] Univ Hosp Cologne, Ctr Mol Med, Cologne, Germany. [Adamczyk, P.; Bjanid, O.; Brylka, A.; Morawiec-Knysak, A.; Szczepanska, M.] Dept Pediat, Zabrze, Poland. [Akinci, N.] Sariyer SISLI Hamidiye Etfal Res & Educ Hosp, Istanbul, Turkey. [Alpay, H.; Cicek, N.; Gokce, I] Marmara Univ, Sch Med, Div Pediat Nephrol, Istanbul, Turkey. [Ardelean, C.; Chirita, A.; Gafencu, M.; Stroescu, R.] Timisoara Children Hosp, Timisoara, Romania. [Ayasreh, N.; Furlano, M.; Torra, R.] Fundacio Puigvert, Barcelona, Spain. [Aydin, Z.; Bayrakci, U. S.] Ankara Univ Hlth Sci, Child Hlth & Dis, Ankara, Turkey. [Bael, A.; Docx, M.; Segers, N.] Koningin Paola Kinderziekenhuis Antwerpen, Antwerp, Belgium. [Baudouin, V; Cambier, A.; Couderc, A.; Dossier, C.; Kwon, V] Hop Robert Debre, AP HP, Paris, France. [Bensman, A.; Biebuyck, A.; Boyer, O.; Charbit, M.; Heidet, L.; Krid, S.; Krug, P.; Salomon, R.] Pediat Nephrol Necker Hosp, Paris, France. [Bialkevich, H.; Kazyra, I] 2nd City Childrens Clin Hosp, Natl Ctr Pediat Nephrol & RRT, Minsk, BELARUS. [Caliskan, S.; Ozcan, S.; Saygili, S. K.] Istanbul Cerrahpasa Fac Med, Istanbul, Turkey. [Camelio, A.; Nobili, F.; Vieux, R.] CHU Besancon, Besancon, France. [Carbone, V; Diomeda, F.; Torres, D.] Pediat Nephrol Unit Bari, Bari, Italy. [Chiodini, B.] HUDERF, Brussels, Belgium. [Collard, L.] CHR La Citadelle, Liege, Belgium. [Conceicao, M.; Teixeira, A.] Ctr Hosp Porto, Ctr Materno Infantil Norte, Porto, Portugal. [Constantinescu, I; Lungu, A. C.; Marin, A.; Negru, I; Stroescu, R.] Fundeni Clin Inst, Bucharest, Romania. [Crapella, B.; Giani, M.; Mastrangelo, A.; Montini, G.] Fdn IRCCS Ca Granda, Pediat Nephrol Dialysis & Transplant Unit, Milan, Italy. [Cvetkovic, M.; Gojkovic, I] Univ Childrens Hosp, Belgrade, Serbia. [Dima, B.] Clin Europe Hop St Elisabeth, Brussels, Belgium. [Dolan, N.] Our Ladys Childrens Hosp, Dublin, Ireland. [Drozdz, D.; Miklaszewska, M.; Zachwieja, K.] Jagiellonian Univ, Med Coll Cracow, Pediat Nephrol & Hypertens, Krakow, Poland. [Drube, J.; Pape, L.] Hannover Med Sch, Hannover, Germany. [Dunand, O.; Leroy, V] Pediat Nephrol Unit St Denis, St Denis, Reunion, France. [Dusan, P.; Spasojevic, B.; Stabouli, S.] Aristotle Univ Thessaloniki, Dept Pediat, Thessaloniki, Greece. [Eid, L. A.] Dubai Hosp, Pediat Nephrol Dept, Dubai, U Arab Emirates. [Emma, F.; Massella, L.] Bambino Gesu Pediat Hosp, Rome, Italy. [Espino Hernandez, M.] Hosp Infantil 12 Octubre Madrid, Madrid, Spain. [Fila, M.; Hemery, F.; Morin, D.] CHU Arnaud Villeneuve, Montpellier, France. [Ghuysen, Ms] CHU Liege, Liege, Belgium. [Giordano, M.] Pediat Nephrol Unit, Bari, Italy. [Girisgen, I; Yuksel, S.] Pamukkale Univ, Med Fac, Dept Pediat Nephrol, Denizli, Turkey. [Godefroid, N.; Ranguelov, N.] Clin Univ St Luc, Brussels, Belgium. [Godron-Dubrasquet, A.; Harambat, J.; Ilanas, B.] Bordeaux Univ Childrens Hosp, Bordeaux, France. [Gonzalez, E.] Childrens Univ Hosp, Geneva, Switzerland. [Groothoff, J. W.] Emma Childrens Hosp, Amsterdam, Netherlands. [Guarino, S.; La Manna, A.; Marzuillo, P.] Univ Campania Luigi Vanvitelli, Caserta, Italy. [Guffens, A.] CHC Clin Esperence, Montegnee, Belgium. [Hansen, P.] CHU Tivoli, La Louviere, Belgium. [Haumann, S.] Univ Klinikum Koln, Cologne, Germany. [He, G.] Foshan Women & Children Hosp, Foshan, Peoples R China. [Helmy, R.] Cairo Univ, Kasr Al Ainy Sch Med, Cairo, Egypt. [Hooman, N.; Otoukesh, H.] Iran Univ Med Sci, Aliasghar Clin Res Dev Unit, Tehran, Iran. [Janssens, P.] Univ Hosp Brussels, Brussels, Belgium. [Karamaria, S.; Prytula, A.; Raes, A.; Snauwaert, E.; Vande Walle, J.] UZ Gent, Ghent, Belgium. [Koenig, J.] Univ Hosp Muenster, Munster, Germany. [Litwin, M.; Obrycki, L.] Childrens Mem Hlth Inst, Warsaw, Poland. [Lombet, J.] CHR Citadelle, Liege, Belgium. [Longo, G.; Murer, L.] Hosp Univ Padova, Pediat Nephrol Dialysis & Transplant Unit, Padua, Italy. [Mallawaarachchi, A.] Garvan Inst, Darlinghurst, NSW, Australia. [Mallawaarachchi, A.] Royal Prince Alfred Hosp, Camperdown, NSW, Australia. [Mallawaarachchi, A.; McCarthy, H.; Quinlan, C.] KidGen, Sydney, NSW, Australia. [McCarthy, H.] Childrens Hosp Westmead, Westmead, NSW, Australia. [McCarthy, H.] Sydney Childrens Hosp, Sydney, NSW, Australia. [Papizh, S.; Prikhodina, L.] Pirogov Russian Nat Res Med Uni, Res & Clin Inst Pediat, Moscow, Russia. [Parvex, P.; Wilhelm-Bals, A.] Childrens Univ Hosp Geneva, Geneva, Switzerland. [Pawlak-Bratkowska, M.; Szczepanik, E.; Tkaczyk, M.] Polish Mothers Mem Hosp, Res Inst, Lodz, Poland. [Quinlan, C.] RCH Melbourne, Melbourne, Vic, Australia. [Ranchin, B.] Hop Femme Mere Enfant, Bron, France. [Ronit, C.] Ctr Hosp Luxembourg, Clin Pediat, Luxembourg, Luxembourg. [Schaefer, S.; Wuehl, E.] Ctr Pediat & Adolescent, Div Pediat Nephrol, Heidelberg, Germany. [Schreuder, M.] Radboudumc Amalia Childrens Hosp, Nijmegen, Netherlands. [Schurmans, T.; Tram, N.] CHU Charleroi, Charleroi, Belgium. [Seeman, T.] Charles Univ Prague, Prague, Czech Republic. [Seeman, T.] Motol Univ Hosp, Prague, Czech Republic. [Sinha, M.] Evelina London Childrens Hosp, London, England. [Taranta-Janusz, K.] Dept Pediat & Nephrol, Bialystok, Poland. [Thumfart, J.] Berlin Charite Univ Med, Berlin, Germany. [Utsch, B.] Herford Hosp, Dept Paediat, Herford, Germany. [Yildirim, Z. Y.] Istanbul Univ, Fac Med, Pediat Nephrol Dept, Istanbul, Turkey.

Published
2019

20. Treatment and long-term outcome in primary distal renal tubular acidosis

Author

Lopez-Garcia, S.C., Emma, F., Walsh, S.B., Fila, M., Hooman, N., Zaniew, M., Bertholet-Thomas, A., Colussi, G., Burgmaier, K., Levtchenko, E.N., Sharma, J., Singhal, J., Soliman, N.A., Ariceta, G., Basu, B., Murer, L., Tasic, V., Tsygin, A., Decramer, S., Gil-Pena, H., Koster-Kamphuis, L., La Scola, C., Gellermann, J., Konrad, M., Lilien, M., Francisco, T., Tramma, D., Trnka, P., Yuksel, S., Caruso, M.R., Chromek, M., Ekinci, Z., Gambaro, G., Kari, J.A., Konig, J., Taroni, F., Thumfart, J., Trepiccione, F., Winding, L., Wuhl, E., Agbas, A., Belkevich, A., Vargas-Poussou, R., Blanchard, A., Conti, G., Boyer, O., Dursun, I., Pinarbasi, A.S., Melek, E., Miglinas, M., Novo, R., Mallett, A., Milosevic, D., Szczepanska, M., Wente, S., Cheong, H.I., Sinha, R., Gucev, Z., Dufek, S., Iancu, D., Kleta, R., Schaefer, F., Bockenhauer, D., Lopez-Garcia, S.C., Emma, F., Walsh, S.B., Fila, M., Hooman, N., Zaniew, M., Bertholet-Thomas, A., Colussi, G., Burgmaier, K., Levtchenko, E.N., Sharma, J., Singhal, J., Soliman, N.A., Ariceta, G., Basu, B., Murer, L., Tasic, V., Tsygin, A., Decramer, S., Gil-Pena, H., Koster-Kamphuis, L., La Scola, C., Gellermann, J., Konrad, M., Lilien, M., Francisco, T., Tramma, D., Trnka, P., Yuksel, S., Caruso, M.R., Chromek, M., Ekinci, Z., Gambaro, G., Kari, J.A., Konig, J., Taroni, F., Thumfart, J., Trepiccione, F., Winding, L., Wuhl, E., Agbas, A., Belkevich, A., Vargas-Poussou, R., Blanchard, A., Conti, G., Boyer, O., Dursun, I., Pinarbasi, A.S., Melek, E., Miglinas, M., Novo, R., Mallett, A., Milosevic, D., Szczepanska, M., Wente, S., Cheong, H.I., Sinha, R., Gucev, Z., Dufek, S., Iancu, D., Kleta, R., Schaefer, F., and Bockenhauer, D.

Abstract

Contains fulltext : 204259.pdf (publisher's version ) (Closed access), BACKGROUND: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome. METHODS: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. RESULTS: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (+/-1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage >/=2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. CONCLUSION: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients.

Published
2019

21. ADPedKD: A Global Online Platform on the Management of Children With ADPKD

Author

De Rechter, Stephanie, Bockenhauer, Detlef, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew J., Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila, Adamczyk, P., Akinci, N., Alpay, H., Ardelean, C., Ayasreh, N., Aydin, Z., Bael, A., Baudouin, V, Bayrakci, U. S., Bensman, A., Bialkevich, H., Biebuyck, A., Boyer, O., Bjanid, O., Brylka, A., Caliskan, S., Cambier, A., Camelio, A., Carbone, V, Charbit, M., Chiodini, B., Chirita, A., Cicek, N., Cerkauskiene, R., Collard, L., Conceicao, M., Constantinescu, I, Couderc, A., Crapella, B., Cvetkovic, M., Dima, B., Diomeda, F., Docx, M., Dolan, N., Dossier, C., Drozdz, D., Drube, J., Dunand, O., Dusan, P., Eid, L. A., Emma, F., Espino Hernandez, M., Fila, M., Furlano, M., Gafencu, M., Ghuysen, Ms, Giani, M., Giordano, M., Girisgen, I, Godefroid, N., Godron-Dubrasquet, A., Gojkovic, I, Gonzalez, E., Gokce, I, Groothoff, J. W., Guarino, S., Guffens, A., Hansen, P., Harambat, J., Haumann, S., He, G., Heidet, L., Helmy, R., Hemery, F., Hooman, N., Ilanas, B., Jankauskiene, A., Janssens, P., Karamaria, S., Kazyra, I, Koenig, J., Krid, S., Krug, P., Kwon, V, La Manna, A., Leroy, V, Litwin, M., Lombet, J., Longo, G., Lungu, A. C., Mallawaarachchi, A., Marin, A., Marzuillo, P., Massella, L., Mastrangelo, A., McCarthy, H., Miklaszewska, M., Moczulska, A., Montini, G., Morawiec-Knysak, A., Morin, D., Murer, L., Negru, I, Nobili, F., Obrycki, L., Otoukesh, H., Ozcan, S., Pape, L., Papizh, S., Parvex, P., Pawlak-Bratkowska, M., Prikhodina, L., Prytula, A., Quinlan, C., Raes, A., Ranchin, B., Ranguelov, N., Repeckiene, R., Ronit, C., Salomon, R., Santagelo, R., Saygili, S. K., Schaefer, S., Schreuder, M., Schurmans, T., Seeman, T., Segers, N., Sinha, M., Snauwaert, E., Spasojevic, B., Stabouli, S., Stoica, C., Stroescu, R., Szczepanik, E., Szczepanska, M., Taranta-Janusz, K., Teixeira, A., Thumfart, J., Tkaczyk, M., Torra, R., Torres, D., Tram, N., Utsch, B., Vande Walle, J., Vieux, R., Vitkevic, R., Wilhelm-Bals, A., Wuehl, E., Yildirim, Z. Y., Yuksel, S., Zachwieja, K., De Rechter, Stephanie, Bockenhauer, Detlef, Guay-Woodford, Lisa M., Liu, Isaac, Mallett, Andrew J., Soliman, Neveen A., Sylvestre, Lucimary C., Schaefer, Franz, Liebau, Max C., Mekahli, Djalila, Adamczyk, P., Akinci, N., Alpay, H., Ardelean, C., Ayasreh, N., Aydin, Z., Bael, A., Baudouin, V, Bayrakci, U. S., Bensman, A., Bialkevich, H., Biebuyck, A., Boyer, O., Bjanid, O., Brylka, A., Caliskan, S., Cambier, A., Camelio, A., Carbone, V, Charbit, M., Chiodini, B., Chirita, A., Cicek, N., Cerkauskiene, R., Collard, L., Conceicao, M., Constantinescu, I, Couderc, A., Crapella, B., Cvetkovic, M., Dima, B., Diomeda, F., Docx, M., Dolan, N., Dossier, C., Drozdz, D., Drube, J., Dunand, O., Dusan, P., Eid, L. A., Emma, F., Espino Hernandez, M., Fila, M., Furlano, M., Gafencu, M., Ghuysen, Ms, Giani, M., Giordano, M., Girisgen, I, Godefroid, N., Godron-Dubrasquet, A., Gojkovic, I, Gonzalez, E., Gokce, I, Groothoff, J. W., Guarino, S., Guffens, A., Hansen, P., Harambat, J., Haumann, S., He, G., Heidet, L., Helmy, R., Hemery, F., Hooman, N., Ilanas, B., Jankauskiene, A., Janssens, P., Karamaria, S., Kazyra, I, Koenig, J., Krid, S., Krug, P., Kwon, V, La Manna, A., Leroy, V, Litwin, M., Lombet, J., Longo, G., Lungu, A. C., Mallawaarachchi, A., Marin, A., Marzuillo, P., Massella, L., Mastrangelo, A., McCarthy, H., Miklaszewska, M., Moczulska, A., Montini, G., Morawiec-Knysak, A., Morin, D., Murer, L., Negru, I, Nobili, F., Obrycki, L., Otoukesh, H., Ozcan, S., Pape, L., Papizh, S., Parvex, P., Pawlak-Bratkowska, M., Prikhodina, L., Prytula, A., Quinlan, C., Raes, A., Ranchin, B., Ranguelov, N., Repeckiene, R., Ronit, C., Salomon, R., Santagelo, R., Saygili, S. K., Schaefer, S., Schreuder, M., Schurmans, T., Seeman, T., Segers, N., Sinha, M., Snauwaert, E., Spasojevic, B., Stabouli, S., Stoica, C., Stroescu, R., Szczepanik, E., Szczepanska, M., Taranta-Janusz, K., Teixeira, A., Thumfart, J., Tkaczyk, M., Torra, R., Torres, D., Tram, N., Utsch, B., Vande Walle, J., Vieux, R., Vitkevic, R., Wilhelm-Bals, A., Wuehl, E., Yildirim, Z. Y., Yuksel, S., and Zachwieja, K.

Abstract

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. Methods: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. Discussion: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease.

Published
2019

22. ADPedKD: A Global Online Platform on the Management of Children With ADPKD

Author

De Rechter, S, Bockenhauer, D, Guay-Woodford, LM, Liu, I, Mallett, AJ, Soliman, NA, Sylvestre, LC, Schaefer, F, Liebau, MC, Mekahli, D, Adamczyk, P, Akinci, N, Alpay, H, Ardelean, C, Ayasreh, N, Aydin, Z, Bael, A, Baudouin, V, Bayrakci, US, Bensman, A, Bialkevich, H, Biebuyck, A, Boyer, O, Bjanid, O, Brylka, A, Caliskan, S, Cambier, A, Camelio, A, Carbone, V, Charbit, M, Chiodini, B, Chirita, A, Cicek, N, Cerkauskiene, R, Collard, L, Conceicao, M, Constantinescu, I, Couderc, A, Crapella, B, Cvetkovic, M, Dima, B, Diomeda, F, Docx, M, Dolan, N, Dossier, C, Drozdz, D, Drube, J, Dunand, O, Dusan, P, Eid, LA, Emma, F, Espino Hernandez, M, Fila, M, Furlano, M, Gafencu, M, Ghuysen, M, Giani, M, Giordano, M, Girisgen, I, Godefroid, N, Godron-Dubrasquet, A, Gojkovic, I, Gonzalez, E, Gokce, I, Groothoff, JW, Guarino, S, Guffens, A, Hansen, P, Harambat, J, Haumann, S, He, G, Heidet, L, Helmy, R, Hemery, F, Hooman, N, Ilanas, B, Jankauskiene, A, Janssens, P, Karamaria, S, Kazyra, I, Koenig, J, Krid, S, Krug, P, Kwon, V, La Manna, A, Leroy, V, Litwin, M, Lombet, J, Longo, G, Lungu, AC, Mallawaarachchi, A, Marin, A, Marzuillo, P, Massella, L, Mastrangelo, A, McCarthy, H, Miklaszewska, M, Moczulska, A, Montini, G, Morawiec-Knysak, A, Morin, D, Murer, L, Negru, I, Nobili, F, Obrycki, L, Otoukesh, H, Ozcan, S, Pape, L, Papizh, S, Parvex, P, Pawlak-Bratkowska, M, Prikhodina, L, Prytula, A, Quinlan, C, Raes, A, Ranchin, B, Ranguelov, N, Repeckiene, R, Ronit, C, Salomon, R, Santagelo, R, Saygili, SK, Schaefer, S, Schreuder, M, Schurmans, T, Seeman, T, Segers, N, Sinha, M, Snauwaert, E, Spasojevic, B, Stabouli, S, Stoica, C, Stroescu, R, Szczepanik, E, Szczepanska, M, Taranta-Janusz, K, Teixeira, A, Thumfart, J, Tkaczyk, M, Torra, R, Torres, D, Tram, N, Utsch, B, Vande Walle, J, Vieux, R, Vitkevic, R, Wilhelm-Bals, A, Wuehl, E, Yildirim, ZY, Yuksel, S, Zachwieja, K, De Rechter, S, Bockenhauer, D, Guay-Woodford, LM, Liu, I, Mallett, AJ, Soliman, NA, Sylvestre, LC, Schaefer, F, Liebau, MC, Mekahli, D, Adamczyk, P, Akinci, N, Alpay, H, Ardelean, C, Ayasreh, N, Aydin, Z, Bael, A, Baudouin, V, Bayrakci, US, Bensman, A, Bialkevich, H, Biebuyck, A, Boyer, O, Bjanid, O, Brylka, A, Caliskan, S, Cambier, A, Camelio, A, Carbone, V, Charbit, M, Chiodini, B, Chirita, A, Cicek, N, Cerkauskiene, R, Collard, L, Conceicao, M, Constantinescu, I, Couderc, A, Crapella, B, Cvetkovic, M, Dima, B, Diomeda, F, Docx, M, Dolan, N, Dossier, C, Drozdz, D, Drube, J, Dunand, O, Dusan, P, Eid, LA, Emma, F, Espino Hernandez, M, Fila, M, Furlano, M, Gafencu, M, Ghuysen, M, Giani, M, Giordano, M, Girisgen, I, Godefroid, N, Godron-Dubrasquet, A, Gojkovic, I, Gonzalez, E, Gokce, I, Groothoff, JW, Guarino, S, Guffens, A, Hansen, P, Harambat, J, Haumann, S, He, G, Heidet, L, Helmy, R, Hemery, F, Hooman, N, Ilanas, B, Jankauskiene, A, Janssens, P, Karamaria, S, Kazyra, I, Koenig, J, Krid, S, Krug, P, Kwon, V, La Manna, A, Leroy, V, Litwin, M, Lombet, J, Longo, G, Lungu, AC, Mallawaarachchi, A, Marin, A, Marzuillo, P, Massella, L, Mastrangelo, A, McCarthy, H, Miklaszewska, M, Moczulska, A, Montini, G, Morawiec-Knysak, A, Morin, D, Murer, L, Negru, I, Nobili, F, Obrycki, L, Otoukesh, H, Ozcan, S, Pape, L, Papizh, S, Parvex, P, Pawlak-Bratkowska, M, Prikhodina, L, Prytula, A, Quinlan, C, Raes, A, Ranchin, B, Ranguelov, N, Repeckiene, R, Ronit, C, Salomon, R, Santagelo, R, Saygili, SK, Schaefer, S, Schreuder, M, Schurmans, T, Seeman, T, Segers, N, Sinha, M, Snauwaert, E, Spasojevic, B, Stabouli, S, Stoica, C, Stroescu, R, Szczepanik, E, Szczepanska, M, Taranta-Janusz, K, Teixeira, A, Thumfart, J, Tkaczyk, M, Torra, R, Torres, D, Tram, N, Utsch, B, Vande Walle, J, Vieux, R, Vitkevic, R, Wilhelm-Bals, A, Wuehl, E, Yildirim, ZY, Yuksel, S, and Zachwieja, K

Abstract

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of renal failure. For several decades, ADPKD was regarded as an adult-onset disease. In the past decade, it has become more widely appreciated that the disease course begins in childhood. However, evidence-based guidelines on how to manage and approach children diagnosed with or at risk of ADPKD are lacking. Also, scoring systems to stratify patients into risk categories have been established only for adults. Overall, there are insufficient data on the clinical course during childhood. We therefore initiated the global ADPedKD project to establish a large international pediatric ADPKD cohort for deep characterization. METHODS: Global ADPedKD is an international multicenter observational study focusing on childhood-diagnosed ADPKD. This collaborative project is based on interoperable Web-based databases, comprising 7 regional and independent but uniformly organized chapters, namely Africa, Asia, Australia, Europe, North America, South America, and the United Kingdom. In the database, a detailed basic data questionnaire, including genetics, is used in combination with data entry from follow-up visits, to provide both retrospective and prospective longitudinal data on clinical, radiologic, and laboratory findings, as well as therapeutic interventions. DISCUSSION: The global ADPedKD initiative aims to characterize in detail the most extensive international pediatric ADPKD cohort reported to date, providing evidence for the development of unified diagnostic, follow-up, and treatment recommendations regarding modifiable disease factors. Moreover, this registry will serve as a platform for the development of clinical and/or biochemical markers predicting the risk of early and progressive disease.

Published
2019

25. ADPedKD: A Global Online Platform on the Management of Children With ADPKD

Author

De Rechter, Stéphanie, primary, Bockenhauer, Detlef, additional, Guay-Woodford, Lisa M., additional, Liu, Isaac, additional, Mallett, Andrew J., additional, Soliman, Neveen A., additional, Sylvestre, Lucimary C., additional, Schaefer, Franz, additional, Liebau, Max C., additional, Mekahli, Djalila, additional, Adamczyk, P., additional, Akinci, N., additional, Alpay, H., additional, Ardelean, C., additional, Ayasreh, N., additional, Aydin, Z., additional, Bael, A., additional, Baudouin, V., additional, Bayrakci, U.S., additional, Bensman, A., additional, Bialkevich, H., additional, Biebuyck, A., additional, Boyer, O., additional, Bjanid, O., additional, Bryłka, A., additional, Çalışkan, S., additional, Cambier, A., additional, Camelio, A., additional, Carbone, V., additional, Charbit, M., additional, Chiodini, B., additional, Chirita, A., additional, Çiçek, N., additional, Cerkauskiene, R., additional, Collard, L., additional, Conceiçao, M., additional, Constantinescu, I., additional, Couderc, A., additional, Crapella, B., additional, Cvetkovic, M., additional, Dima, B., additional, Diomeda, F., additional, Docx, M., additional, Dolan, N., additional, Dossier, C., additional, Drozdz, D., additional, Drube, J., additional, Dunand, O., additional, Dusan, P., additional, Eid, L.A., additional, Emma, F., additional, Espino Hernandez, M., additional, Fila, M., additional, Furlano, M., additional, Gafencu, M., additional, Ghuysen, M.S., additional, Giani, M., additional, Giordano, M., additional, Girisgen, I., additional, Godefroid, N., additional, Godron-Dubrasquet, A., additional, Gojkovic, I., additional, Gonzalez, E., additional, Gökçe, I., additional, Groothoff, J.W., additional, Guarino, S., additional, Guffens, A., additional, Hansen, P., additional, Harambat, J., additional, Haumann, S., additional, He, G., additional, Heidet, L., additional, Helmy, R., additional, Hemery, F., additional, Hooman, N., additional, llanas, B., additional, Jankauskiene, A., additional, Janssens, P., additional, Karamaria, S., additional, Kazyra, I., additional, Koenig, J., additional, Krid, S., additional, Krug, P., additional, Kwon, V., additional, La Manna, A., additional, Leroy, V., additional, Litwin, M., additional, Lombet, J., additional, Longo, G., additional, Lungu, A.C., additional, Mallawaarachchi, A., additional, Marin, A., additional, Marzuillo, P., additional, Massella, L., additional, Mastrangelo, A., additional, McCarthy, H., additional, Miklaszewska, M., additional, Moczulska, A., additional, Montini, G., additional, Morawiec-Knysak, A., additional, Morin, D., additional, Murer, L., additional, Negru, I., additional, Nobili, F., additional, Obrycki, L., additional, Otoukesh, H., additional, Özcan, S., additional, Pape, L., additional, Papizh, S., additional, Parvex, P., additional, Pawlak-Bratkowska, M., additional, Prikhodina, L., additional, Prytula, A., additional, Quinlan, C., additional, Raes, A., additional, Ranchin, B., additional, Ranguelov, N., additional, Repeckiene, R., additional, Ronit, C., additional, Salomon, R., additional, Santagelo, R., additional, Saygılı, S.K., additional, Schaefer, S., additional, Schreuder, M., additional, Schurmans, T., additional, Seeman, T., additional, Segers, N., additional, Sinha, M., additional, Snauwaert, E., additional, Spasojevic, B., additional, Stabouli, S., additional, Stoica, C., additional, Stroescu, R., additional, Szczepanik, E., additional, Szczepańska, M., additional, Taranta-Janusz, K., additional, Teixeira, A., additional, Thumfart, J., additional, Tkaczyk, M., additional, Torra, R., additional, Torres, D., additional, Tram, N., additional, Utsch, B., additional, Vande Walle, J., additional, Vieux, R., additional, Vitkevic, R., additional, Wilhelm-Bals, A., additional, Wühl, E., additional, Yildirim, Z.Y., additional, Yüksel, S., additional, and Zachwieja, K., additional

Published
2019
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26. C5 Convertase Blockade in Membranoproliferative Glomerulonephritis: A Single-Arm Clinical Trial

Author

Ruggenenti, Piero, primary, Daina, Erica, additional, Gennarini, Alessia, additional, Carrara, Camillo, additional, Gamba, Sara, additional, Noris, Marina, additional, Rubis, Nadia, additional, Peraro, Francesco, additional, Gaspari, Flavio, additional, Pasini, Andrea, additional, Rigotti, Angelo, additional, Lerchner, Renelda M., additional, Santoro, Domenico, additional, Pisani, Antonio, additional, Pasi, Alessandra, additional, Remuzzi, Giuseppe, additional, Remuzzi, G., additional, Ruggenenti, P., additional, Mondo, E., additional, Rota, S., additional, Carrara, C., additional, Portalupi, V., additional, Pasini, A., additional, Monitini, G., additional, Monti, E., additional, Rigotti, A., additional, De Giovanni, F., additional, Giacon, B., additional, Lerchner, R.M., additional, Passler, W., additional, Santoro, D., additional, Visconti, L., additional, Pisani, A., additional, Riccio, E., additional, Pasi, A., additional, Dugo, M., additional, Tuono, C., additional, Emma, F., additional, Vivarelli, M., additional, Murer, L., additional, Benetti, E., additional, Coppo, R., additional, Amore, A., additional, Gambaro, G., additional, Passalacqua, S., additional, Ruggiero, B., additional, Daina, E., additional, Bresin, E., additional, Gamba, S., additional, Prandini, S., additional, Lecchi, V., additional, Cugini, D., additional, Gherardi, G., additional, Rubis, N., additional, Diadei, O., additional, Villa, A., additional, Villa, D., additional, Boccardo, P., additional, Peracchi, S., additional, Martinetti, D., additional, Perna, A., additional, Peraro, F., additional, Giuliano, G.A., additional, Gaspari, F., additional, Carrara, F., additional, Ferrari, S., additional, Stucchi, N., additional, Cannata, A., additional, Noris, M., additional, Bettoni, S., additional, Alberti, M., additional, Cuccarolo, P., additional, Rizzo, P., additional, Marchetti, G.F., additional, and Sonzogni, A., additional

Published
2019
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28. 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

29. Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants

Author

Gigante, M., Diella, S., Santangelo, L., Trevisson, E., Acosta, M. J., Amatruda, M., Finzi, G., Caridi, G., Murer, L., Accetturo, M., Ranieri, E., Ghiggeri, G. M., Giordano, M., Grandaliano, Giuseppe, Salviati, L., and Gesualdo, L.

Subjects
Male, Mitochondrial Diseases, Muscle Weakness, Nephrotic Syndrome, Ubiquinone, DNA Mutational Analysis, COQ2, yeast model, COQ6, Pedigree, Coenzyme Q10 deficiency, Mutation, Humans, Settore MED/14 - NEFROLOGIA, Ataxia, Computer Simulation, Female, Steroid Resistant Nephrotic Syndrome
Published
2017

34. Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants

Author

Gigante, M., primary, Diella, S., additional, Santangelo, L., additional, Trevisson, E., additional, Acosta, M.J., additional, Amatruda, M., additional, Finzi, G., additional, Caridi, G., additional, Murer, L., additional, Accetturo, M., additional, Ranieri, E., additional, Ghiggeri, G.M., additional, Giordano, M., additional, Grandaliano, G., additional, Salviati, L., additional, and Gesualdo, L., additional

Published
2017
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36. TO044A EUROPEAN REGISTRY OF HENOCH SCHOENLEINPURPURA NEPHRITIS IN CHILDREN TO DETECT RISK FACTORS FOR PROGRESSION

Author

Peruzzi, L., primary, Gianoglio, B., additional, Pecoraro, C., additional, Alessandrella, A., additional, Murer, L., additional, Benetti, E., additional, Deschenes, G., additional, Materassi, M., additional, Gallo, P., additional, Lugani, F., additional, Ghiggeri, G., additional, Spasojevic Dimitrieva, B., additional, Jankauskiene, A., additional, Mizerska-Wasiak, M., additional, Lungu, A., additional, and Coppo, R., additional

Published
2016
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37. Correlazioni genotipo-fenotipo nella malattia di Dent: risultati di uno studio collaborativo italiano

Author

Anglani F, Tosetto E, Torregrossa R, Emma F, Barbano G, Ghiggeri GM, Vezzoli G, Murer L, Ratsh IM, Ottonello G, Amenti A, Landro D, Peruzzi L, Cara M, Citron L, D’Angelo A, Gambaro G, Anglani, F, Tosetto, E, Torregrossa, R, Emma, F, Barbano, G, Ghiggeri, Gm, Vezzoli, G, Murer, L, Ratsh, Im, Ottonello, G, Amenti, A, Landro, D, Peruzzi, L, Cara, M, Citron, L, D’Angelo, A, and Gambaro, G

Published
2005

38. Genetica molecolare della malattia di Dent

Author

Tosetto E, Graziotto R, Torregrossa R, Emma F, Barbano G, Vezzoli G, Murer L, Gambaro G, D’Angelo A, Anglani F, Tosetto, E, Graziotto, R, Torregrossa, R, Emma, F, Barbano, G, Vezzoli, G, Murer, L, Gambaro, G, D’Angelo, A, and Anglani, F

Published
2004

39. Encapsulating peritoneal sclerosis in paediatric peritoneal dialysis patients: the experience of the Italian Registry of Pediatric Chronic Dialysis

Author

Vidal, E, Edefonti, A, Puteo, F, Chimenz, Roberto, Gianoglio, B, Lavoratti, G, Leozappa, G, Maringhini, S, Mencarelli, F, Pecoraro, C, Ratsch, Im, Cannavò, R, De Palo, T, Testa, S, Murer, L, Verrina, E, and Italian Registry of Pediatric Chronic Dialysis

Subjects
Nephrology, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, education, Peritonitis, encapsulating peritoneal sclerosis, Peritoneal dialysis, Focal segmental glomerulosclerosis, children, Glomerulopathy, Risk Factors, Internal medicine, medicine, Humans, Registries, Renal Insufficiency, Renal Insufficiency, Chronic, Chronic, Child, Preschool, Retrospective Studies, Transplantation, business.industry, Incidence (epidemiology), Incidence, Infant, Newborn, peritoneal dialysis, Child, Preschool, Female, Infant, Italy, Peritoneal Dialysis, Peritoneal Fibrosis, Prognosis, Survival Rate, medicine.disease, Newborn, Surgery, Discontinuation, Hemodialysis, business
Abstract

Paediatric literature about encapsulating peritoneal sclerosis (EPS) is limited and comes primarily from anecdotic experiences. In this study, we described the incidence and characteristics of EPS in a large paediatric chronic peritoneal dialysis (CPD) patient population.We reviewed files of patients starting CPD at16 years of age, recorded from January 1986 to December 2011 by the Italian Registry of Pediatric Chronic Dialysis (n = 712). Moreover, in December 2011, a survey was performed involving all the Italian Pediatric Nephrology Units to report such EPS cases that occurred after CPD withdrawal.Fourteen EPS cases were reported, resulting in a prevalence of 1.9%. The median age of EPS cases was 4.8 years (range 0.6-14.4) at the start of CPD and 14.3 years (6.5-26.8) at EPS diagnosis. Eleven EPS cases received CPD for longer than 5 years. At diagnosis, nine patients were still on CPD, two were on haemodialysis and three were transplanted. In eight patients, the primary renal disease was represented by glomerulopathy, mainly focal segmental glomerulosclerosis (n = 5). In the last 6 months prior to CPD discontinuation, 10 patients were treated with solutions containing more than 2.27% glucose. Peritonitis incidence was 1:26.8 CPD-months, similar to that calculated in children12 months of age from the same registry (1:28.3 CPD-months). The mortality rate was 43%. A more aggressive course and an association with calcineurin inhibitors were observed in transplanted patients.Surveillance for EPS should be maintained in high-risk children who received long-term PD even after years from CPD withdrawal.

Published
2013

40. Peritoneal dialysis in infants: the experience of the Italian Registry of Paediatric Chronic Dialysis

Author

Vidal, E., Edefonti, A., Murer, L., Gianoglio, B., Maringhini, S., Pecoraro, C., Sorino, P., Leozappa, G., Lavoratti, G., Ratsch, I. M., Chimenz, Roberto, Verrina, E., and on behalf of Italian Registry of Paediatric Chronic Dialysis

Subjects
Male, Pediatrics, medicine.medical_specialty, Catheters, medicine.medical_treatment, education, Peritonitis, Comorbidity, Kidney, Peritoneal dialysis, Kidney Failure, Catheters, Indwelling, Risk Factors, medicine, Humans, Longitudinal Studies, Registries, Chronic, Survival rate, Dialysis, Transplantation, business.industry, Incidence (epidemiology), Mortality rate, Incidence, Infant, Newborn, Infant, medicine.disease, Newborn, Prognosis, Chronic Disease, Female, Follow-Up Studies, Glomerular Filtration Rate, Italy, Kidney Failure, Chronic, Peritoneal Dialysis, Survival Rate, Indwelling, Nephrology, Population study, business
Abstract

Background. Although chronic peritoneal dialysis (CPD) is considered the replacement therapy of choice for infants with end-stage renal failure, many questions persist about treatment risks and outcomes. Methods. We present data on 84 infants who started CPD at

Published
2011

50. Clinical and genetic study of primary hyperoxaluria in Italy

Author

Robbiano, Angela, Mandrile, Giorgia, Giachino, Daniela Francesca, Petrarulo, M., Pirulli, D., Zadro, C., Marangella, M., Amoroso, Antonio, Peruzzi, L., Murer, L., Picca, S., and DE MARCHI, Mario

Subjects
AGXT, primary hyperoxaluria
Published
2008

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