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2. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

Author

Kiryluk, Krzysztof, Sanchez-Rodriguez, Elena, Zhou, Xu-Jie, Zanoni, Francesca, Liu, Lili, Mladkova, Nikol, Khan, Atlas, Marasa, Maddalena, Zhang, Jun Y., Balderes, Olivia, Sanna-Cherchi, Simone, Bomback, Andrew S., Canetta, Pietro A., Appel, Gerald B., Radhakrishnan, Jai, Trimarchi, Hernan, Sprangers, Ben, Cattran, Daniel C., Reich, Heather, Pei, York, Ravani, Pietro, Galesic, Kresimir, Maixnerova, Dita, Tesar, Vladimir, Stengel, Benedicte, Metzger, Marie, Canaud, Guillaume, Maillard, Nicolas, Berthoux, Francois, Berthelot, Laureline, Pillebout, Evangeline, Monteiro, Renato, Nelson, Raoul, Wyatt, Robert J., Smoyer, William, Mahan, John, Samhar, Al-Akash, Hidalgo, Guillermo, Quiroga, Alejandro, Weng, Patricia, Sreedharan, Raji, Selewski, David, Davis, Keefe, Kallash, Mahmoud, Vasylyeva, Tetyana L., Rheault, Michelle, Chishti, Aftab, Ranch, Daniel, Wenderfer, Scott E., Samsonov, Dmitry, Claes, Donna J., Akchurin, Oleh, Goumenos, Dimitrios, Stangou, Maria, Nagy, Judit, Kovacs, Tibor, Fiaccadori, Enrico, Amoroso, Antonio, Barlassina, Cristina, Cusi, Daniele, Del Vecchio, Lucia, Battaglia, Giovanni Giorgio, Bodria, Monica, Boer, Emanuela, Bono, Luisa, Boscutti, Giuliano, Caridi, Gianluca, Lugani, Francesca, Ghiggeri, GianMarco, Coppo, Rosanna, Peruzzi, Licia, Esposito, Vittoria, Esposito, Ciro, Feriozzi, Sandro, Polci, Rosaria, Frasca, Giovanni, Galliani, Marco, Garozzo, Maurizio, Mitrotti, Adele, Gesualdo, Loreto, Granata, Simona, Zaza, Gianluigi, Londrino, Francesco, Magistroni, Riccardo, Pisani, Isabella, Magnano, Andrea, Marcantoni, Carmelita, Messa, Piergiorgio, Mignani, Renzo, Pani, Antonello, Ponticelli, Claudio, Roccatello, Dario, Salvadori, Maurizio, Salvi, Erica, Santoro, Domenico, Gembillo, Guido, Savoldi, Silvana, Spotti, Donatella, Zamboli, Pasquale, Izzi, Claudia, Alberici, Federico, Delbarba, Elisa, Florczak, Michał, Krata, Natalia, Mucha, Krzysztof, Pączek, Leszek, Niemczyk, Stanisław, Moszczuk, Barbara, Pańczyk-Tomaszewska, Malgorzata, Mizerska-Wasiak, Malgorzata, Perkowska-Ptasińska, Agnieszka, Bączkowska, Teresa, Durlik, Magdalena, Pawlaczyk, Krzysztof, Sikora, Przemyslaw, Zaniew, Marcin, Kaminska, Dorota, Krajewska, Magdalena, Kuzmiuk-Glembin, Izabella, Heleniak, Zbigniew, Bullo-Piontecka, Barbara, Liberek, Tomasz, Dębska-Slizien, Alicja, Hryszko, Tomasz, Materna-Kiryluk, Anna, Miklaszewska, Monika, Szczepańska, Maria, Dyga, Katarzyna, Machura, Edyta, Siniewicz-Luzeńczyk, Katarzyna, Pawlak-Bratkowska, Monika, Tkaczyk, Marcin, Runowski, Dariusz, Kwella, Norbert, Drożdż, Dorota, Habura, Ireneusz, Kronenberg, Florian, Prikhodina, Larisa, van Heel, David, Fontaine, Bertrand, Cotsapas, Chris, Wijmenga, Cisca, Franke, Andre, Annese, Vito, Gregersen, Peter K., Parameswaran, Sreeja, Weirauch, Matthew, Kottyan, Leah, Harley, John B., Suzuki, Hitoshi, Narita, Ichiei, Goto, Shin, Lee, Hajeong, Kim, Dong Ki, Kim, Yon Su, Park, Jin-Ho, Cho, BeLong, Choi, Murim, Van Wijk, Ans, Huerta, Ana, Ars, Elisabet, Ballarin, Jose, Lundberg, Sigrid, Vogt, Bruno, Mani, Laila-Yasmin, Caliskan, Yasar, Barratt, Jonathan, Abeygunaratne, Thilini, Kalra, Philip A., Gale, Daniel P., Panzer, Ulf, Rauen, Thomas, Floege, Jürgen, Schlosser, Pascal, Ekici, Arif B., Eckardt, Kai-Uwe, Chen, Nan, Xie, Jingyuan, Lifton, Richard P., Loos, Ruth J. F., Kenny, Eimear E., Ionita-Laza, Iuliana, Köttgen, Anna, Julian, Bruce A., Novak, Jan, Scolari, Francesco, Zhang, Hong, and Gharavi, Ali G.

Published
2023
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3. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Author

Gupta, Yask, Friedman, David J., McNulty, Michelle T., Khan, Atlas, Lane, Brandon, Wang, Chen, Ke, Juntao, Jin, Gina, Wooden, Benjamin, Knob, Andrea L., Lim, Tze Y., Appel, Gerald B., Huggins, Kinsie, Liu, Lili, Mitrotti, Adele, Stangl, Megan C., Bomback, Andrew, Westland, Rik, Bodria, Monica, Marasa, Maddalena, Shang, Ning, Cohen, David J., Crew, Russell J., Morello, William, Canetta, Pietro, Radhakrishnan, Jai, Martino, Jeremiah, Liu, Qingxue, Chung, Wendy K., Espinoza, Angelica, Luo, Yuan, Wei, Wei-Qi, Feng, Qiping, Weng, Chunhua, Fang, Yilu, Kullo, Iftikhar J., Naderian, Mohammadreza, Limdi, Nita, Irvin, Marguerite R., Tiwari, Hemant, Mohan, Sumit, Rao, Maya, Dube, Geoffrey K., Chaudhary, Ninad S., Gutiérrez, Orlando M., Judd, Suzanne E., Cushman, Mary, Lange, Leslie A., Lange, Ethan M., Bivona, Daniel L., Verbitsky, Miguel, Winkler, Cheryl A., Kopp, Jeffrey B., Santoriello, Dominick, Batal, Ibrahim, Pinheiro, Sérgio Veloso Brant, Oliveira, Eduardo Araújo, Simoes e Silva, Ana Cristina, Pisani, Isabella, Fiaccadori, Enrico, Lin, Fangming, Gesualdo, Loreto, Amoroso, Antonio, Ghiggeri, Gian Marco, D’Agati, Vivette D., Magistroni, Riccardo, Kenny, Eimear E., Loos, Ruth J. F., Montini, Giovanni, Hildebrandt, Friedhelm, Paul, Dirk S., Petrovski, Slavé, Goldstein, David B., Kretzler, Matthias, Gbadegesin, Rasheed, Gharavi, Ali G., Kiryluk, Krzysztof, Sampson, Matthew G., Pollak, Martin R., and Sanna-Cherchi, Simone

Published
2023
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4. Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

Author

Barry, Alexandra, McNulty, Michelle T., Jia, Xiaoyuan, Gupta, Yask, Debiec, Hanna, Luo, Yang, Nagano, China, Horinouchi, Tomoko, Jung, Seulgi, Colucci, Manuela, Ahram, Dina F., Mitrotti, Adele, Sinha, Aditi, Teeninga, Nynke, Jin, Gina, Shril, Shirlee, Caridi, Gianluca, Bodria, Monica, Lim, Tze Y., Westland, Rik, Zanoni, Francesca, Marasa, Maddalena, Turudic, Daniel, Giordano, Mario, Gesualdo, Loreto, Magistroni, Riccardo, Pisani, Isabella, Fiaccadori, Enrico, Reiterova, Jana, Maringhini, Silvio, Morello, William, Montini, Giovanni, Weng, Patricia L., Scolari, Francesco, Saraga, Marijan, Tasic, Velibor, Santoro, Domenica, van Wijk, Joanna A. E., Milošević, Danko, Kawai, Yosuke, Kiryluk, Krzysztof, Pollak, Martin R., Gharavi, Ali, Lin, Fangmin, Simœs e Silva, Ana Cristina, Loos, Ruth J. F., Kenny, Eimear E., Schreuder, Michiel F., Zurowska, Aleksandra, Dossier, Claire, Ariceta, Gema, Drozynska-Duklas, Magdalena, Hogan, Julien, Jankauskiene, Augustina, Hildebrandt, Friedhelm, Prikhodina, Larisa, Song, Kyuyoung, Bagga, Arvind, Cheong, II, Hae, Ghiggeri, Gian Marco, Vachvanichsanong, Prayong, Nozu, Kandai, Lee, Dongwon, Vivarelli, Marina, Raychaudhuri, Soumya, Tokunaga, Katsushi, Sanna-Cherchi, Simone, Ronco, Pierre, Iijima, Kazumoto, and Sampson, Matthew G.

Published
2023
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5. Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies

Author

Martino, Jeremiah, Liu, Qingxue, Vukojevic, Katarina, Ke, Juntao, Lim, Tze Y., Khan, Atlas, Gupta, Yask, Perez, Alejandra, Yan, Zonghai, Milo Rasouly, Hila, Vena, Natalie, Lippa, Natalie, Giordano, Jessica L., Saraga, Marijan, Saraga-Babic, Mirna, Westland, Rik, Bodria, Monica, Piaggio, Giorgio, Bendapudi, Pavan K., Iglesias, Alejandro D., Wapner, Ronald J., Tasic, Velibor, Wang, Fan, Ionita-Laza, Iuliana, Ghiggeri, Gian Marco, Kiryluk, Krzysztof, Sampogna, Rosemary V., Mendelsohn, Cathy L., D’Agati, Vivette D., Gharavi, Ali G., and Sanna-Cherchi, Simone

Published
2023
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6. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Author

Weng, Patricia, Majmundar, Amar, Khan, Kamal, Lim, Tze, Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina, Aggarwal, Vimla, Bier, Louise, Heinzen, Erin, Onuchic-Whitford, Ana, Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas, Klämbt, Verena, Kolb, Amy, Mao, Youying, Moufawad El Achkar, Christelle, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo, Altmüller, Janine, Benz, Marcus, Yano, Shoji, Mikati, Mohamad, Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa, Martinez-Agosto, Julian, Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, Parboosingh, Jillian, Innes, A, Bierzynska, Agnieszka, Koziell, Ania, Muorah, Mordi, Saleem, Moin, Hoefele, Julia, Riedhammer, Korbinian, Gharavi, Ali, Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor, ODonnell-Luria, Anne, Rehm, Heidi, Mane, Shrikant, DAgati, Vivette, Pollak, Martin, Ghiggeri, Gian, Lifton, Richard, Goldstein, David, Davis, Erica, Hildebrandt, Friedhelm, and Sanna-Cherchi, Simone

Subjects
FSGS, SRNS, TRIM8, epilepsy, genomics, monogenic, nuclear body, Adult, Animals, Carrier Proteins, Cell Line, Child, Child, Preschool, Codon, Nonsense, Developmental Disabilities, Epilepsy, Female, Glomerulosclerosis, Focal Segmental, Humans, Intranuclear Space, Kidney, Male, Mice, Mutation, Nephrotic Syndrome, Nerve Tissue Proteins, Phenotype, Podocytes, Exome Sequencing
Abstract

Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, while the contribution of de novo variants (DNVs) to this trait is poorly understood. Using exome sequencing (ES) in a proband with FSGS/SRNS, developmental delay, and epilepsy, we discovered a nonsense DNV in TRIM8, which encodes the E3 ubiquitin ligase tripartite motif containing 8. To establish whether TRIM8 variants represent a cause of FSGS, we aggregated exome/genome-sequencing data for 2,501 pediatric FSGS/SRNS-affected individuals and 48,556 control subjects, detecting eight heterozygous TRIM8 truncating variants in affected subjects but none in control subjects (p = 3.28 × 10-11). In all six cases with available parental DNA, we demonstrated de novo inheritance (p = 2.21 × 10-15). Reverse phenotyping revealed neurodevelopmental disease in all eight families. We next analyzed ES from 9,067 individuals with epilepsy, yielding three additional families with truncating TRIM8 variants. Clinical review revealed FSGS in all. All TRIM8 variants cause protein truncation clustering within the last exon between residues 390 and 487 of the 551 amino acid protein, indicating a correlation between this syndrome and loss of the TRIM8 C-terminal region. Wild-type TRIM8 overexpressed in immortalized human podocytes and neuronal cells localized to nuclear bodies, while constructs harboring patient-specific variants mislocalized diffusely to the nucleoplasm. Co-localization studies demonstrated that Gemini and Cajal bodies frequently abut a TRIM8 nuclear body. Truncating TRIM8 DNVs cause a neuro-renal syndrome via aberrant TRIM8 localization, implicating nuclear bodies in FSGS and developmental brain disease.

Published
2021

7. Management of the congenital solitary kidney: consensus recommendations of the Italian Society of Pediatric Nephrology

Author

La Scola, Claudio, Ammenti, Anita, Bertulli, Cristina, Bodria, Monica, Brugnara, Milena, Camilla, Roberta, and Capone, Valentina

Subjects
Care and treatment, Evaluation, Abnormalities, Birth defects -- Care and treatment, Kidney -- Abnormalities, Practice guidelines (Medicine) -- Evaluation, Kidneys -- Abnormalities
Abstract

Author(s): Claudio La Scola [sup.1] , Anita Ammenti [sup.2] , Cristina Bertulli [sup.1] , Monica Bodria [sup.3] , Milena Brugnara [sup.4] , Roberta Camilla [sup.5] , Valentina Capone [sup.6] , [...], Background In recent years, several studies have been published on the prognosis of children with congenital solitary kidney (CSK), with controversial results, and a worldwide consensus on management and follow-up is lacking. In this consensus statement, the Italian Society of Pediatric Nephrology summarizes the current knowledge on CSK and presents recommendations for its management, including diagnostic approach, nutritional and lifestyle habits, and follow-up. Summary of the recommendations We recommend that any antenatal suspicion/diagnosis of CSK be confirmed by neonatal ultrasound (US), avoiding the routine use of further imaging if no other anomalies of kidney/urinary tract are detected. A CSK without additional abnormalities is expected to undergo compensatory enlargement, which should be assessed by US. We recommend that urinalysis, but not blood tests or genetic analysis, be routinely performed at diagnosis in infants and children showing compensatory enlargement of the CSK. Extrarenal malformations should be searched for, particularly genital tract malformations in females. An excessive protein and salt intake should be avoided, while sport participation should not be restricted. We recommend a lifelong follow-up, which should be tailored on risk stratification, as follows: low risk: CSK with compensatory enlargement, medium risk: CSK without compensatory enlargement and/or additional CAKUT, and high risk: decreased GFR and/or proteinuria, and/or hypertension. We recommend that in children at low-risk periodic US, urinalysis and BP measurement be performed; in those at medium risk, we recommend that serum creatinine also be measured; in high-risk children, the schedule has to be tailored according to kidney function and clinical data.

Published
2022
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9. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

Author

Ahram, Dina F., Lim, Tze Y., Ke, Juntao, Jin, Gina, Verbitsky, Miguel, Bodria, Monica, Kil, Byum Hee, Chatterjee, Debanjana, Piva, Stacy E., Marasa, Maddalena, Zhang, Jun Y., Cocchi, Enrico, Caridi, Gianluca, Gucev, Zoran, Lozanovski, Vladimir J., Pisani, Isabella, Izzi, Claudia, Savoldi, Gianfranco, Gnutti, Barbara, Capone, Valentina P., Morello, William, Guarino, Stefano, Esposito, Pasquale, Lambert, Sarah, Radhakrishnan, Jai, Appel, Gerald B., Uy, Natalie S., Rao, Maya K., Canetta, Pietro A., Bomback, Andrew S., Nestor, Jordan G., Hays, Thomas, Cohen, David J., Finale, Carolina, Wijk, Joanna A.E. van, La Scola, Claudio, Baraldi, Olga, Tondolo, Francesco, Di Renzo, Dacia, Jamry-Dziurla, Anna, Pezzutto, Alessandro, Manca, Valeria, Mitrotti, Adele, Santoro, Domenico, Conti, Giovanni, Martino, Marida, Giordano, Mario, Gesualdo, Loreto, Zibar, Lada, Masnata, Giuseppe, Bonomini, Mario, Alberti, Daniele, La Manna, Gaetano, Caliskan, Yasar, Ranghino, Andrea, Marzuillo, Pierluigi, Kiryluk, Krzysztof, Krzemień, Grażyna, Miklaszewska, Monika, Lin, Fangming, Montini, Giovanni, Scolari, Francesco, Fiaccadori, Enrico, Arapović, Adela, Saraga, Marijan, McKiernan, James, Alam, Shumyle, Zaniew, Marcin, Szczepańska, Maria, Szmigielska, Agnieszka, Sikora, Przemysław, Drożdż, Dorota, Mizerska-Wasiak, Malgorzata, Mane, Shrikant, Lifton, Richard P., Tasic, Velibor, Latos-Bielenska, Anna, Gharavi, Ali G., Ghiggeri, Gian Marco, Materna-Kiryluk, Anna, Westland, Rik, and Sanna-Cherchi, Simone

Published
2023
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10. The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Author

Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David, Batourina, Ekaterina, Sampson, Matthew, Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina, Vivante, Asaf, Shril, Shirlee, Kil, Byum, Marasà, Maddalena, Zhang, Jun, Na, Young-Ji, Lim, Tze, Ahram, Dina, Weng, Patricia, Heinzen, Erin, Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna, Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria, Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark, Darlow, John, Puri, Prem, Barton, David, Furth, Susan, Warady, Bradley, Gucev, Zoran, Lozanovski, Vladimir, Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida, Campistol, Josep, Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig, Lin, Fangming, Miranda, Débora, Oliveira, Eduardo, Simões-E-Silva, Ana, Barasch, Jonathan, Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia, Mendelsohn, Cathy, Gharavi, Ali, and Sanna-Cherchi, Simone

Subjects
Chromosome Deletion, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Kidney, Male, Urinary Tract, Urogenital Abnormalities, Vesico-Ureteral Reflux
Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

Published
2019

11. Rituximab for very low dose steroid-dependent nephrotic syndrome in children: a randomized controlled study

Author

Ravani, Pietro, Lugani, Francesca, Pisani, Isabella, Bodria, Monica, Piaggio, Giorgio, Bartolomeo, Domenico, and Prunotto, Marco

Subjects
Drug therapy, Usage, Comparative analysis, Pediatric research -- Comparative analysis -- Usage, Nephrotic syndrome -- Drug therapy, Rituximab -- Comparative analysis -- Usage, Steroids (Drugs) -- Comparative analysis -- Usage
Abstract

Author(s): Pietro Ravani [sup.1] , Francesca Lugani [sup.2] , Isabella Pisani [sup.3] , Monica Bodria [sup.2] , Giorgio Piaggio [sup.2] , Domenico Bartolomeo [sup.3] , Marco Prunotto [sup.4] , Gian [...], Background Steroid-dependent nephrotic syndrome (SDNS) carries a high risk of toxicity from steroids or steroid-sparing agents. This open-label, randomized controlled trial was designed to test whether the monoclonal antibody rituximab is non-inferior to steroids in maintaining remission in juvenile forms of SDNS and how long remission may last (EudraCT:2008-004486-26). Methods We enrolled 30 children 4-15 years who had developed SDNS 6-12 months before and were maintained in remission with low prednisone doses (0.1-0.4 mg/Kg/day). Participants were randomized following a non-inferiority design to continue prednisone alone (n 15, controls) or to add a single intravenous infusion of rituximab (375 mg/m.sup.2, n 15 intervention). Prednisone was tapered in both arms after 1 month. Children assigned to the control arm were allowed to receive rituximab to treat disease relapse. Results Proteinuria increased at 3 months in the prednisone group (from 0.14 to 1.5 g/day) (p < 0.001) and remained unchanged in the rituximab group (0.14 g/day). Fourteen children in the control arm relapsed within 6 months. Thirteen children assigned to rituximab (87%) were still in remission at 1 year and 8 (53%) at 4 years. Responses were similar in children of the control group who received rituximab to treat disease relapse. We did not record significant adverse events. Conclusions Rituximab was non-inferior to steroids for the treatment of juvenile SDNS. One in two children remains in remission at 4 years following a single infusion of rituximab, without significant adverse events. Further studies are needed to clarify the superiority of rituximab over low-dose corticosteroid as a treatment of SDNS.

Published
2020
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12. Low-dose ofatumumab for multidrug-resistant nephrotic syndrome in children: a randomized placebo-controlled trial

Author

Ravani, Pietro, Pisani, Isabella, Bodria, Monica, Caridi, Gianluca, Degl'Innocenti, Maria Ludovica, and Ghiggeri, Gian Marco

Subjects
Testing, Care and treatment, Nephrotic syndrome -- Care and treatment, Pediatric diseases -- Care and treatment, Ofatumumab -- Testing, Children -- Diseases
Abstract

Author(s): Pietro Ravani [sup.1] , Isabella Pisani [sup.2] , Monica Bodria [sup.3] , Gianluca Caridi [sup.3] , Maria Ludovica Degl'Innocenti [sup.3] , Gian Marco Ghiggeri [sup.3] Author Affiliations: (1) grid.22072.35, [...], Background Children with multidrug-resistant nephrotic syndrome (MRNS) are exposed to drug toxicity (steroids/calcineurin inhibitors (CNI)/mycophenolate mofetil (MMF)) and have an increased risk of kidney disease progression. In small case series, the fully humanized anti-CD20 antibody ofatumumab (OFA) induced remission in children with MRNS when at high dose (10,300 mg/1.73 m.sup.2) and partial remission at standard dose (1000 mg/1.73 m.sup.2). Methods This double-blind randomized placebo-controlled trial tested the efficacy of single infusion OFA in children with proven MRNS and initial chronic renal failure (eGFR [median/range] 119/38-155 ml/min/1.73 m.sup.2 in Placebo arm vs. 65/19-103 ml/min/1.73 m.sup.2 Intervention). Children who had been resistant to a combination of CNI and steroids, with or without MMF or rituximab, were randomized to receive single infusion OFA (1500 mg/1.73 m.sup.2) (Intervention arm) or normal saline (Placebo arm). We assessed complete or partial remission of proteinuria after 3 months (primary outcome), and after 6 and 12 months (secondary outcomes), as well as progression to end-stage kidney disease. Results After 13 of the planned 50 children (25%) were randomized, the data safety and monitoring board recommended study termination for futility. All 13 children remained nephrotic. Renal function worsened in 5 children (2 in Intervention arm, 3 in Placebo arm) who required renal replacement therapy during the study period. Circulating CD20 was reduced following OFA infusion and remained low for > 3 months. Conclusions OFA given in one single infusion of 1500 mg/1.73 m.sup.2 doses does not induce remission in MRNS. Regimens based on higher OFA doses should be tested in clinical trials. Trial registration https://clinicaltrials.gov https://clinicaltrials.gov : NCT02394106

Published
2020
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13. Mutations in DSTYK and Dominant Urinary Tract Malformations

Author

Sanna-Cherchi, Simone, Sampogna, Rosemary V, Papeta, Natalia, Burgess, Katelyn E, Nees, Shannon N, Perry, Brittany J, Choi, Murim, Bodria, Monica, Liu, Yan, Weng, Patricia L, Lozanovski, Vladimir J, Verbitsky, Miguel, Lugani, Francesca, Sterken, Roel, Paragas, Neal, Caridi, Gianluca, Carrea, Alba, Dagnino, Monica, Materna-Kiryluk, Anna, Santamaria, Giuseppe, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Kacak, Nilgun, Bianco, Beatrice, Giberti, Stefania, Gigante, Maddalena, Piaggio, Giorgio, Gesualdo, Loreto, Vukic, Durdica Kosuljandic, Vukojevic, Katarina, Saraga-Babic, Mirna, Saraga, Marijan, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Casu, Domenica, State, Matthew, Scolari, Francesco, Ravazzolo, Roberto, Kiryluk, Krzysztof, Al-Awqati, Qais, D'Agati, Vivette D, Drummond, Iain A, Tasic, Velibor, Lifton, Richard P, Ghiggeri, Gian Marco, and Gharavi, Ali G

Subjects
Urologic Diseases, Pediatric, Congenital Structural Anomalies, Human Genome, Kidney Disease, Biotechnology, Genetics, Clinical Research, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Aetiology, Renal and urogenital, Adult, Animals, Base Sequence, Child, Exome, Female, Gene Knockdown Techniques, Genetic Linkage, Genome-Wide Association Study, Heterozygote, Humans, Infant, Kidney, Male, Mice, Molecular Sequence Data, Mutation, Pedigree, RNA, Small Interfering, Receptor-Interacting Protein Serine-Threonine Kinases, Urinary Tract, Urogenital Abnormalities, Young Adult, Medical and Health Sciences, General & Internal Medicine
Abstract

BackgroundCongenital abnormalities of the kidney and the urinary tract are the most common cause of pediatric kidney failure. These disorders are highly heterogeneous, and the etiologic factors are poorly understood.MethodsWe performed genomewide linkage analysis and whole-exome sequencing in a family with an autosomal dominant form of congenital abnormalities of the kidney or urinary tract (seven affected family members). We also performed a sequence analysis in 311 unrelated patients, as well as histologic and functional studies.ResultsLinkage analysis identified five regions of the genome that were shared among all affected family members. Exome sequencing identified a single, rare, deleterious variant within these linkage intervals, a heterozygous splice-site mutation in the dual serine-threonine and tyrosine protein kinase gene (DSTYK). This variant, which resulted in aberrant splicing of messenger RNA, was present in all affected family members. Additional, independent DSTYK mutations, including nonsense and splice-site mutations, were detected in 7 of 311 unrelated patients. DSTYK is highly expressed in the maturing epithelia of all major organs, localizing to cell membranes. Knockdown in zebrafish resulted in developmental defects in multiple organs, which suggested loss of fibroblast growth factor (FGF) signaling. Consistent with this finding is the observation that DSTYK colocalizes with FGF receptors in the ureteric bud and metanephric mesenchyme. DSTYK knockdown in human embryonic kidney cells inhibited FGF-stimulated phosphorylation of extracellular-signal-regulated kinase (ERK), the principal signal downstream of receptor tyrosine kinases.ConclusionsWe detected independent DSTYK mutations in 2.3% of patients with congenital abnormalities of the kidney or urinary tract, a finding that suggests that DSTYK is a major determinant of human urinary tract development, downstream of FGF signaling. (Funded by the National Institutes of Health and others.).

Published
2013

14. Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Author

Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Burgess, Katelyn E, Bodria, Monica, Sampson, Matthew G, Hadley, Dexter, Nees, Shannon N, Verbitsky, Miguel, Perry, Brittany J, Sterken, Roel, Lozanovski, Vladimir J, Materna-Kiryluk, Anna, Barlassina, Cristina, Kini, Akshata, Corbani, Valentina, Carrea, Alba, Somenzi, Danio, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Bianco, Beatrice, Zaniew, Marcin, Flogelova, Hana, Weng, Patricia L, Kacak, Nilgun, Giberti, Stefania, Gigante, Maddalena, Arapovic, Adela, Drnasin, Kristina, Caridi, Gianluca, Curioni, Simona, Allegri, Franca, Ammenti, Anita, Ferretti, Stefania, Goj, Vinicio, Bernardo, Luca, Jobanputra, Vaidehi, Chung, Wendy K, Lifton, Richard P, Sanders, Stephan, State, Matthew, Clark, Lorraine N, Saraga, Marijan, Padmanabhan, Sandosh, Dominiczak, Anna F, Foroud, Tatiana, Gesualdo, Loreto, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Cusi, Daniele, Scolari, Francesco, Tasic, Velibor, Hakonarson, Hakon, Ghiggeri, Gian Marco, and Gharavi, Ali G

Subjects
Prevention, Kidney Disease, Human Genome, Genetics, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Renal and urogenital, Case-Control Studies, Chromosome Aberrations, DNA Copy Number Variations, Genetic Association Studies, Genotype, Humans, Kidney Diseases, Molecular Sequence Annotation, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 × 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay.

Published
2012

16. Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Author

Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young-Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., and Gharavi, Ali G.

Published
2017
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17. The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

Author

Xie, Jingyuan, Liu, Lili, Mladkova, Nikol, Li, Yifu, Ren, Hong, Wang, Weiming, Cui, Zhao, Lin, Li, Hu, Xiaofan, Yu, Xialian, Xu, Jing, Liu, Gang, Caliskan, Yasar, Sidore, Carlo, Balderes, Olivia, Rosen, Raphael J., Bodria, Monica, Zanoni, Francesca, Zhang, Jun Y., Krithivasan, Priya, Mehl, Karla, Marasa, Maddalena, Khan, Atlas, Ozay, Fatih, Canetta, Pietro A., Bomback, Andrew S., Appel, Gerald B., Sanna-Cherchi, Simone, Sampson, Matthew G., Mariani, Laura H., Perkowska-Ptasinska, Agnieszka, Durlik, Magdalena, Mucha, Krzysztof, Moszczuk, Barbara, Foroncewicz, Bartosz, Pączek, Leszek, Habura, Ireneusz, Ars, Elisabet, Ballarin, Jose, Mani, Laila-Yasmin, Vogt, Bruno, Ozturk, Savas, Yildiz, Abdülmecit, Seyahi, Nurhan, Arikan, Hakki, Koc, Mehmet, Basturk, Taner, Karahan, Gonca, Akgul, Sebahat Usta, Sever, Mehmet Sukru, Zhang, Dan, Santoro, Domenico, Bonomini, Mario, Londrino, Francesco, Gesualdo, Loreto, Reiterova, Jana, Tesar, Vladimir, Izzi, Claudia, Savoldi, Silvana, Spotti, Donatella, Marcantoni, Carmelita, Messa, Piergiorgio, Galliani, Marco, Roccatello, Dario, Granata, Simona, Zaza, Gianluigi, Lugani, Francesca, Ghiggeri, GianMarco, Pisani, Isabella, Allegri, Landino, Sprangers, Ben, Park, Jin-Ho, Cho, BeLong, Kim, Yon Su, Kim, Dong Ki, Suzuki, Hitoshi, Amoroso, Antonio, Cattran, Daniel C., Fervenza, Fernando C., Pani, Antonello, Hamilton, Patrick, Harris, Shelly, Gupta, Sanjana, Cheshire, Chris, Dufek, Stephanie, Issler, Naomi, Pepper, Ruth J., Connolly, John, Powis, Stephen, Bockenhauer, Detlef, Stanescu, Horia C., Ashman, Neil, Loos, Ruth J. F., Kenny, Eimear E., Wuttke, Matthias, Eckardt, Kai-Uwe, Köttgen, Anna, Hofstra, Julia M., Coenen, Marieke J. H., Kiemeney, Lambertus A., Akilesh, Shreeram, Kretzler, Matthias, Beck, Lawrence H., Stengel, Benedicte, Debiec, Hanna, Ronco, Pierre, Wetzels, Jack F. M., Zoledziewska, Magdalena, Cucca, Francesco, Ionita-Laza, Iuliana, Lee, Hajeong, Hoxha, Elion, Stahl, Rolf A. K., Brenchley, Paul, Scolari, Francesco, Zhao, Ming-hui, Gharavi, Ali G., Kleta, Robert, Chen, Nan, and Kiryluk, Krzysztof

Published
2020
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18. Strong protective effect of theAPOL1p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Author

Gupta, Yask, primary, Friedman, David J., additional, McNulty, Michelle, additional, Khan, Atlas, additional, Lane, Brandon, additional, Wang, Chen, additional, Ke, Juntao, additional, Jin, Gina, additional, Wooden, Benjamin, additional, Knob, Andrea L., additional, Lim, Tze Y., additional, Appel, Gerald B., additional, Huggins, Kinsie, additional, Liu, Lili, additional, Mitrotti, Adele, additional, Stangl, Megan C., additional, Bomback, Andrew, additional, Westland, Rik, additional, Bodria, Monica, additional, Marasa, Maddalena, additional, Shang, Ning, additional, Cohen, David J., additional, Crew, Russell J., additional, Morello, William, additional, Canetta, Pietro, additional, Radhakrishnan, Jai, additional, Martino, Jeremiah, additional, Liu, Qingxue, additional, Chung, Wendy K., additional, Espinoza, Angelica, additional, Luo, Yuan, additional, Wei, Wei-Qi, additional, Feng, Qiping, additional, Weng, Chunhua, additional, Fang, Yilu, additional, Kullo, Iftikhar J., additional, Naderian, Mohammadreza, additional, Limdi, Nita, additional, Irvin, Marguerite R., additional, Tiwari, Hemant, additional, Mohan, Sumit, additional, Rao, Maya, additional, Dube, Geoffrey, additional, Chaudhary, Ninad S., additional, Gutiérrez, Orlando M., additional, Judd, Suzanne E., additional, Cushman, Mary, additional, Lange, Leslie A., additional, Lange, Ethan M., additional, Bivona, Daniel L., additional, Verbitsky, Miguel, additional, Winkler, Cheryl A., additional, Kopp, Jeffrey B., additional, Santoriello, Dominick, additional, Batal, Ibrahim, additional, Brant Pinheiro, Sérgio Veloso, additional, Araújo Oliveira, Eduardo, additional, e Silva, Ana Cristina Simoes, additional, Pisani, Isabella, additional, Fiaccadori, Enrico, additional, Lin, Fangming, additional, Gesualdo, Loreto, additional, Amoroso, Antonio, additional, Ghiggeri, Gian Marco, additional, D’Agati, Vivette D., additional, Magistroni, Riccardo, additional, Kenny, Eimear E., additional, Loos, Ruth J.F., additional, Montini, Giovanni, additional, Hildebrandt, Friedhelm, additional, Paul, Dirk S., additional, Petrovski, Slavé, additional, Goldstein, David B., additional, Kretzler, Matthias, additional, Gbadegesin, Rasheed, additional, Gharavi, Ali G., additional, Kiryluk, Krzysztof, additional, Sampson, Matthew G., additional, Pollak, Martin R., additional, and Sanna-Cherchi, Simone, additional

Published
2023
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19. Multi-population genome-wide association study implicates both immune and non-immune factors in the etiology of pediatric steroid sensitive nephrotic syndrome

Author

Barry, Alexandra, primary, McNulty, Michelle T., additional, Jia, Xiaoyuan, additional, Gupta, Yask, additional, Debiec, Hanna, additional, Luo, Yang, additional, Nagano, China, additional, Horinouchi, Tomoko, additional, Jung, Seulgi, additional, Colucci, Manuela, additional, Ahram, Dina F., additional, Mitrotti, Adele, additional, Sinha, Aditi, additional, Teeninga, Nynke, additional, Jin, Gina, additional, Shril, Shirlee, additional, Caridi, Gianluca, additional, Bodria, Monica, additional, Lim, Tze Y, additional, Westland, Rik, additional, Zanoni, Francesca, additional, Marasa, Maddalena, additional, Turudic, Daniel, additional, Giordano, Mario, additional, Gesualdo, Loreto, additional, Magistroni, Riccardo, additional, Pisani, Isabella, additional, Fiaccadori, Enrico, additional, Reiterova, Jana, additional, Maringhini, Silvio, additional, Morello, William, additional, Montini, Giovanni, additional, Weng, Patricia L., additional, Scolari, Francesco, additional, Saraga, Marijan, additional, Tasic, Velibor, additional, Santoro, Domenica, additional, van Wijk, Joanna A.E., additional, Milošević, Danko, additional, Kawai, Yosuke, additional, Kiryluk, Krzysztof, additional, Pollak, Martin R., additional, Gharavi, Ali, additional, Lin, Fangmin, additional, Simœs e Silva, Ana Cristina, additional, Loos, Ruth J.F., additional, Kenny, Eimear E., additional, Schreuder, Michiel F., additional, Zurowska, Aleksandra, additional, Dossier, Claire, additional, Ariceta, Gema, additional, Drozynska-Duklas, Magdalena, additional, Hogan, Julien, additional, Jankauskiene, Augustina, additional, Hildebrandt, Friedhelm, additional, Prikhodina, Larisa, additional, Song, Kyuyoung, additional, Bagga, Arvind, additional, Cheong, Hae Il, additional, Ghiggeri, Gian Marco, additional, Vachvanichsanong, Prayong, additional, Nozu, Kandai, additional, Vivarelli, Marina, additional, Raychaudhuri, Soumya, additional, Tokunaga, Katsushi, additional, Sanna-Cherchi, Simone, additional, Ronco, Pierre, additional, Iijima, Kazumoto, additional, and Sampson, Matthew G., additional

Published
2022
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20. Rituximab is a safe and effective long-term treatment for children with steroid and calcineurin inhibitor–dependent idiopathic nephrotic syndrome

Author

Ravani, Pietro, Ponticelli, Alessandro, Siciliano, Chiara, Fornoni, Alessia, Magnasco, Alberto, Sica, Felice, Bodria, Monica, Caridi, Gianluca, Wei, Changli, Belingheri, Mirco, Ghio, Luciana, Merscher-Gomez, Sandra, Edefonti, Alberto, Pasini, Andrea, Montini, Giovanni, Murtas, Corrado, Wang, Xiangyu, Muruve, Daniel, Vaglio, Augusto, Martorana, Davide, Pani, Antonello, Scolari, Francesco, Reiser, Jochen, and Ghiggeri, Gian M.

Published
2013
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21. Supplement to: Genetic drivers of kidney defects in the DiGeorge syndrome.

Author

Lopez-Rivera, Esther, Liu, Yangfan P., Verbitsky, Miguel, Anderson, Blair R., Capone, Valentina P., Otto, Edgar A., Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J., Fasel, David A., Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E., Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S., Bodria, Monica, Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S., Honig, Barry, Lozanovski, Vladimir J., Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E., Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M., Crowley, Terrence B., Zackai, Elaine H., Drosdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M., Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Bielenska, Anna Latos, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S., Drummond, Iain A., DʼAgati, Vivette, Imamoto, Akira, Barasch, Jonathan M., Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P., Morrow, Bernice E., Jeanpierre, Cecile, Papaioannou, Virginia E., Ghiggeri, Gian Marco, Gharavi, Ali G., Katsanis, Nicholas, and Sanna-Cherchi, Simone

Published
2017

22. Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children

Author

Trautmann, Agnes, Schnaidt, Sven, Lipska-Ziętkiewicz, Beata S., Bodria, Monica, Ozaltin, Fatih, Emma, Francesco, Anarat, Ali, Melk, Anette, Azocar, Marta, Oh, Jun, Saeed, Bassam, Gheisari, Alaleh, Caliskan, Salim, Gellermann, Jutta, Higuita, Lina Maria Serna, Jankauskiene, Augustina, Drozdz, Dorota, Mir, Sevgi, Balat, Ayse, Szczepanska, Maria, Paripovic, Dusan, Zurowska, Alexandra, Bogdanovic, Radovan, Yilmaz, Alev, Ranchin, Bruno, Baskin, Esra, Erdogan, Ozlem, Remuzzi, Giuseppe, Firszt-Adamczyk, Agnieszka, Kuzma-Mroczkowska, Elzbieta, Litwin, Mieczyslaw, Murer, Luisa, Tkaczyk, Marcin, Jardim, Helena, Wasilewska, Anna, Printza, Nikoleta, Fidan, Kibriya, Simkova, Eva, Borzecka, Halina, Staude, Hagen, Hees, Katharina, Schaefer, Franz, Azocar, M, Quiroz, Lily, Higuita, LM Serna, Dušek, Jiří, Ranchin, B, Fischbach, Michel, Davitaia, Tinatin, Gellerman, J, Oh, J, Melk, A, Schaefer, F, Wigger, Marianne, Printza, N, Sallay, Peter, Gheissari, Alaleh, Noris, Marina, Pasini, Andrea, Ghiggeri, Gian Marco, Ardissino, Gianluigi, Benetti, Elisa, Emma, F, Aoun, Bilal, Abou-Jaoudé, Pauline, Jankauskiene, A, Wasilewska, A, Gacka, Ewa, Zurowska, A, Drozdz, D, Tkaczyk, M, Lodz, Małgorzata Stańczyk, Borzecka, H, Silska, Magdalena, Jarmolinski, Tomasz, Firszt-Adamczyk, A, Ksiazek, Joanna, Kuzma-Mroczkowska, E, Medynska, Anna, Szczepanska, M, Afonso, Alberto Caldas, Jardim, H, Belgrade, Amira Peco-Antic, Bogdanovic, R, Krmar, Rafael T, Simonetti, Giacomo D, Saeed, B, Anarat, A, Balat, A, Baskin, E, Cakar, Nilgun, Erdogan, O, Özcakar, Birsin, Ozaltin, F, Sakallioglu, Onur, Soylemezoglu, Oguz, Akman, Sema, Gok, Faysal, Caliskan, S, Candan, Cengiz, Yilmaz, A, Mir, S, Akil, Ipek, Ertan, Pelin, Özkaya, Ozan, Kalyoncu, Mukaddes, Simkova, E, Alhammadi, Entesar, and Sobko, Roman

Published
2017
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23. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Author

Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasa, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simoes-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., and Sanna-Cherchi, Simone

Published
2019
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24. Functional Magnetic Resonance Urography in Ureteropelvic Junction Obstruction: Proposal for a Pediatric Quantitative Score

Author

Damasio, Maria Beatrice, primary, Sertorio, Fiammetta, additional, Wong, Michela Cing Yu, additional, Campo, Irene, additional, Carlucci, Marcello, additional, Basso, Luca, additional, Anfigeno, Lorenzo, additional, Bodria, Monica, additional, Pistorio, Angela, additional, Piaggio, Giorgio, additional, Ghiggeri, Gian Marco, additional, and Mattioli, Girolamo, additional

Published
2022
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25. Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

Author

Sanna-Cherchi, Simone, Burgess, Katelyn E., Nees, Shannon N., Caridi, Gianluca, Weng, Patricia L., Dagnino, Monica, Bodria, Monica, Carrea, Alba, Allegretta, Maddalena A., Kim, Hyunjae R., Perry, Brittany J., Gigante, Maddalena, Clark, Lorraine N., Kisselev, Sergey, Cusi, Daniele, Gesualdo, Loreto, Allegri, Landino, Scolari, Francesco, D'Agati, Vivette, Shapiro, Lawrence S., Pecoraro, Carmine, Palomero, Teresa, Ghiggeri, Gian M., and Gharavi, Ali G.

Published
2011
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26. Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Author

Lopez-Rivera, Esther, Liu, Yangfan P., Verbitsky, Miguel, Anderson, Blair R., Capone, Valentina P., Otto, Edgar A., Yan, Zhonghai, Mitrotti, Adele, Martino, Jeremiah, Steers, Nicholas J., Fasel, David A., Vukojevic, Katarina, Deng, Rong, Racedo, Silvia E., Liu, Qingxue, Werth, Max, Westland, Rik, Vivante, Asaf, Makar, Gabriel S., Bodria, Monica, Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Maiorana, Mariarosa, Petrey, Donald S., Honig, Barry, Lozanovski, Vladimir J., Salomon, Rémi, Heidet, Laurence, Carpentier, Wassila, Gaillard, Dominique, Carrea, Alba, Gesualdo, Loreto, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A.E., Arapovic, Adela, Saraga-Babic, Mirna, Saraga, Marijan, Kunac, Nenad, Samii, Ali, McDonald-McGinn, Donna M., Crowley, Terrence B., Zackai, Elaine H., Drozdz, Dorota, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Szczepanska, Maria, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Darlow, John M., Puri, Prem, Barton, David, Casolari, Emilio, Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Hakonarson, Hakon, Flogelova, Hana, Tasic, Velibor, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Allegri, Landino, Wong, Craig S., Drummond, Iain A., DʼAgati, Vivette, Imamoto, Akira, Barasch, Jonathan M., Hildebrandt, Friedhelm, Kiryluk, Krzysztof, Lifton, Richard P., Morrow, Bernice E., Jeanpierre, Cecile, Papaioannou, Virginia E., Ghiggeri, Gian Marco, Gharavi, Ali G., Katsanis, Nicholas, and Sanna-Cherchi, Simone

Published
2017
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27. Supplement to: Mutations in DSTYK and dominant urinary tract malformations.

Author

Sanna-Cherchi, Simone, Sampogna, Rosemary V, Papeta, Natalia, Burgess, Katelyn E, Nees, Shannon N, Perry, Brittany J, Choi, Murim, Bodria, Monica, Liu, Yan, Weng, Patricia L, Lozanovski, Vladimir J, Verbitsky, Miguel, Lugani, Francesca, Sterken, Roel, Paragas, Neal, Caridi, Gianluca, Carrea, Alba, Dagnino, Monica, Materna-Kiryluk, Anna, Santamaria, Giuseppe, Murtas, Corrado, Ristoska-Bojkovska, Nadica, Izzi, Claudia, Kacak, Nilgun, Bianco, Beatrice, Giberti, Stefania, Gigante, Maddalena, Piaggio, Giorgio, Gesualdo, Loreto, Vukic, Durdica Kosuljandic, Vukojevic, Katarina, Saraga-Babic, Mirna, Saraga, Marijan, Gucev, Zoran, Allegri, Landino, Latos-Bielenska, Anna, Casu, Domenica, State, Matthew, Scolari, Francesco, Ravazzolo, Roberto, Kiryluk, Krzysztof, Al-Awqati, Qais, DʼAgati, Vivette, Drummond, Iain A., Tasic, Velibor, Lifton, Richard P, Ghiggeri, Gian Marco, and Gharavi, Ali G

Published
2013

28. GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy

Author

Kiryluk, Krzysztof, primary, Sanchez-Rodriguez, Elena, additional, Zhou, Xu-jie, additional, Zanoni, Francesca, additional, Liu, Lili, additional, Mladkova, Nikol, additional, Khan, Atlas, additional, Marasa, Maddalena, additional, Zhang, Jun-Ying, additional, Balderes, Olivia, additional, Sanna-Cherchi, Simone, additional, Bomback, Andrew S., additional, Canetta, Pietro A., additional, Appel, Gerald B., additional, Radhakrishnan, Jai, additional, Trimarchi, Hernan, additional, Sprangers, Ben, additional, Cattran, Daniel C., additional, Reich, Heather, additional, Pei, York, additional, Ravani, Pietro, additional, Galesic, Kresimir, additional, Maixnerova, Dita, additional, Tesar, Vladimir, additional, Stengel, Benedicte, additional, Metzger, Marie, additional, Canaud, Guillaume, additional, Maillard, Nicolas, additional, Berthoux, Francois, additional, Berthelot, Laureline, additional, Pillebout, Evangeline, additional, Monteiro, Renato, additional, Nelson, Raoul, additional, Wyatt, Robert, additional, Smoyer, William, additional, Mahan, John, additional, Samhar, Al-Akash, additional, Hidalgo, Guillermo, additional, Quiroga, Alejandro, additional, Weng, Patricia, additional, Sreedharan, Raji, additional, Selewski, David, additional, Davis, Keefe, additional, Kallash, Mahmoud, additional, Vasylyeva, Tetyana L., additional, Rheault, Michelle, additional, Chishti, Aftab, additional, Ranch, Daniel, additional, Wenderfer, Scott E., additional, Samsonov, Dmitry, additional, Claes, Donna J., additional, Oleh, Akchurin, additional, Goumenos, Dimitrios, additional, Stangou, Maria, additional, Nagy, Judit, additional, Kovacs, Tibor, additional, Fiaccadori, Enrico, additional, Amoroso, Antonio, additional, Barlassina, Cristina, additional, Cusi, Daniele, additional, Del Vecchio, Lucia, additional, Battaglia, Giovanni-Giorgio, additional, Bodria, Monica, additional, Boer, Emanuela, additional, Bono, Luisa, additional, Boscutti, Giuliano, additional, Caridi, Gianluca, additional, Lugani, Francesca, additional, Ghiggeri, GianMarco, additional, Coppo, Rosanna, additional, Peruzzi, Licia, additional, Esposito, Vittoria, additional, Esposito, Ciro, additional, Feriozzi, Sandro, additional, Polci, Rosaria, additional, Frasca, Giovanni, additional, Galliani, Marco, additional, Garozzo, Maurizio, additional, Mitrotti, Adele, additional, Gesualdo, Loreto, additional, Granata, Simona, additional, Zaza, Gianluigi, additional, Londrino, Francesco, additional, Magistroni, Riccardo, additional, Pisani, Isabella, additional, Magnano, Andrea, additional, Marcantoni, Carmelita, additional, Messa, Piergiorgio, additional, Mignani, Renzo, additional, Pani, Antonello, additional, Ponticelli, Claudio, additional, Roccatello, Dario, additional, Salvadori, Maurizio, additional, Salvi, Erica, additional, Santoro, Domenico, additional, Gembillo, Guido, additional, Savoldi, Silvana, additional, Spotti, Donatella, additional, Zamboli, Pasquale, additional, Izzi, Claudia, additional, Alberici, Federico, additional, Delbarba, Elisa, additional, Florczak, Michal, additional, Krata, Natalia, additional, Mucha, Krzysztof, additional, Paczek, Leszek, additional, Niemczyk, Stanisaw, additional, Moszczuk, Barbara, additional, Panczyk-Tomaszewska, Magorzata, additional, Mizerska-Wasiak, Malgorzata, additional, Perkowska-Ptasinska, Agnieszka, additional, Baczkowska, Teresa, additional, Durlik, Magdalena, additional, Pawlaczyk, Krzysztof, additional, Sikora, Przemyslaw, additional, Zaniew, Marcin, additional, Kaminska, Dorota, additional, Krajewska, Magdalena, additional, Kuzmiuk-Glembin, Izabella, additional, Heleniak, Zbigniew, additional, Bullo-Piontecka, Barbara, additional, Liberek, Tomasz, additional, Dbska-Slizien, Alicja, additional, Hryszko, Tomasz, additional, Materna-Kiryluk, Anna, additional, Miklaszewska, Monika, additional, Szczepanska, Maria, additional, Dyga, Katarzyna, additional, Machura, Edyta, additional, Siniewicz-Luzenczyk, Katarzyna, additional, Pawlak-Bratkowska, Monika, additional, Tkaczyk, Marcin, additional, Runowski, Dariusz, additional, Kwella, Norbert, additional, Drozdz, Dorota, additional, Habura, Ireneusz, additional, Kronenberg, Florian, additional, Prikhodina, Larisa, additional, van Heel, David, additional, Fontaine, Bertrand, additional, Cotsapas, Chris, additional, Wijmenga, Cisca, additional, Franke, Andre, additional, Annese, Vito, additional, Gregersen, Peter K., additional, Parameswaran, Sreeja, additional, Weirauch, Matthew, additional, Kottyan, Leah, additional, Harley, John B., additional, Suzuki, Hitoshi, additional, Narita, Ichiei, additional, Goto, Shin, additional, Lee, Hajeong, additional, Kim, Dong-Ki, additional, Kim, Yon Su, additional, Park, Jin-Ho, additional, Cho, BeLong, additional, Choi, Murim, additional, Van Wijk, Ans, additional, Huerta, Ana, additional, Ars, Elisabet, additional, Ballarin, Jose, additional, Lundberg, Sigrid, additional, Vogt, Bruno, additional, Mani, Laila-Yasmin, additional, Caliskan, Yasar, additional, Barratt, Jonathan, additional, Abeygunaratne, Thilini, additional, Kalra, Philip A., additional, Gale, Daniel P., additional, Panzer, Ulf, additional, Rauen, Thomas, additional, Floege, Jurgen, additional, Schlosser, Pascal, additional, Ekici, Arif B., additional, Eckardt, Kai-Uwe, additional, Chen, Nan, additional, Xie, Jingyuan, additional, Lifton, Richard P., additional, Loos, Ruth J.F., additional, Kenny, Eimear E., additional, Ionita-Laza, Iuliana, additional, Kottgen, Anna, additional, Julian, Bruce, additional, Novak, Jan, additional, Scolari, Francesco, additional, Zhang, Hong, additional, and Gharavi, Ali G., additional

Published
2021
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30. Prognostic Factors and Long-Term Outcome with ANCA-Associated Kidney Vasculitis in Childhood

Author

Calatroni, Marta, primary, Consonni, Filippo, additional, Allinovi, Marco, additional, Bettiol, Alessandra, additional, Jawa, Natasha, additional, Fiasella, Susanna, additional, Curi, Dritan, additional, Abu Rumeileh, Sarah, additional, Tomei, Leonardo, additional, Fortunato, Laura, additional, Gelain, Elena, additional, Gianfreda, Davide, additional, Oliva, Elena, additional, Jeannin, Guido, additional, Salviani, Chiara, additional, Emmi, Giacomo, additional, Bodria, Monica, additional, Sinico, Renato A., additional, Moroni, Gabriella, additional, Ramirez, Giuseppe A., additional, Bozzolo, Enrica, additional, Tombetti, Enrico, additional, Monti, Sara, additional, Bracaglia, Claudia, additional, Marucci, Giulia, additional, Pastore, Serena, additional, Esposito, Pasquale, additional, Catanoso, Maria G., additional, Crapella, Barbara, additional, Montini, Giovanni, additional, Roperto, Rosa, additional, Materassi, Marco, additional, Rossi, Giovanni M., additional, Badalamenti, Salvatore, additional, Yeung, Rae S.M., additional, Romagnani, Paola, additional, Ghiggeri, Gian M., additional, Noone, Damien, additional, and Vaglio, Augusto, additional

Published
2021
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31. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Author

Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas M., Klambt, Verena, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, V, Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm, Sanna-Cherchi, Simone, Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas M., Klambt, Verena, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, V, Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm, and Sanna-Cherchi, Simone

Abstract

Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, while the contribution of de novo variants (DNVs) to this trait is poorly understood. Using exome sequencing (ES) in a proband with FSGS/SRNS, developmental delay, and epilepsy, we discovered a nonsense DNV in TRIM8, which encodes the E3 ubiquitin ligase tripartite motif containing 8. To establish whether TRIM8 variants represent a cause of FSGS, we aggregated exome/genome-sequencing data for 2,501 pediatric FSGS/SRNS-affected individuals and 48,556 control subjects, detecting eight heterozygous TRIM8 truncating variants in affected subjects but none in control subjects (p = 3.28 3 10(-11)). In all six cases with available parental DNA, we demonstrated de novo inheritance (p = 2.21 3 10(-15)). Reverse phenotyping revealed neurodevelopmental disease in all eight families. We next analyzed ES from 9,067 individuals with epilepsy, yielding three additional families with truncating TRIM8 variants. Clinical review revealed FSGS in all. All TRIM8 variants cause protein truncation clustering within the last exon between residues 390 and 487 of the 551 amino acid protein, indicating a correlation between this syndrome and loss of the TRIM8 C-terminal region. Wild-type TRIM8 overexpressed in immortalized human podocytes and neuronal cells localized to nuclear bodies, while constructs harboring patient-specific variants mislocalized diffusely to the nucleoplasm. Co-localization studies demonstrated that Gemini and Cajal bodies frequently abut a TRIM8 nuclear body. Truncating TRIM8 DNVs cause a neuro-renal syndrome via aberrant TRIM8 localization, implicating nuclear bodies in FSGS and developmental brain disease.

Published
2021

32. Prognostic Factors and Long-Term Outcome with ANCA-Associated Kidney Vasculitis in Childhood

Author

Calatroni, M, Consonni, F, Allinovi, M, Bettiol, A, Jawa, N, Fiasella, S, Curi, D, Abu-Rumeileh, S, Tomei, L, Fortunato, L, Gelain, E, Gianfreda, D, Oliva, E, Jeannin, G, Salviani, C, Emmi, G, Bodria, M, Sinico, R, Moroni, G, Ramirez, G, Bozzolo, E, Tombetti, E, Monti, S, Bracaglia, C, Marucci, G, Pastore, S, Esposito, P, Catanoso, M, Crapella, B, Montini, G, Roperto, R, Materassi, M, Rossi, G, Badalamenti, S, Yeung, R, Romagnani, P, Ghiggeri, G, Noone, D, Vaglio, A, Calatroni, Marta, Consonni, Filippo, Allinovi, Marco, Bettiol, Alessandra, Jawa, Natasha, Fiasella, Susanna, Curi, Dritan, Abu-Rumeileh, Sarah, Tomei, Leonardo, Fortunato, Laura, Gelain, Elena, Gianfreda, Davide, Oliva, Elena, Jeannin, Guido, Salviani, Chiara, Emmi, Giacomo, Bodria, Monica, Sinico, Renato, Moroni, Gabriella, Ramirez, Giuseppe, Bozzolo, Enrica, Tombetti, Enrico, Monti, Sara, Bracaglia, Claudia, Marucci, Giulia, Pastore, Serena, Esposito, Pasquale, Catanoso, Maria, Crapella, Barbara, Montini, Giovanni, Roperto, Rosa, Materassi, Marco, Rossi, Giovanni, Badalamenti, Salvatore, Yeung, Rae, Romagnani, Paola, Ghiggeri, Gian Marco, Noone, Damien, Vaglio, Augusto, Calatroni, M, Consonni, F, Allinovi, M, Bettiol, A, Jawa, N, Fiasella, S, Curi, D, Abu-Rumeileh, S, Tomei, L, Fortunato, L, Gelain, E, Gianfreda, D, Oliva, E, Jeannin, G, Salviani, C, Emmi, G, Bodria, M, Sinico, R, Moroni, G, Ramirez, G, Bozzolo, E, Tombetti, E, Monti, S, Bracaglia, C, Marucci, G, Pastore, S, Esposito, P, Catanoso, M, Crapella, B, Montini, G, Roperto, R, Materassi, M, Rossi, G, Badalamenti, S, Yeung, R, Romagnani, P, Ghiggeri, G, Noone, D, Vaglio, A, Calatroni, Marta, Consonni, Filippo, Allinovi, Marco, Bettiol, Alessandra, Jawa, Natasha, Fiasella, Susanna, Curi, Dritan, Abu-Rumeileh, Sarah, Tomei, Leonardo, Fortunato, Laura, Gelain, Elena, Gianfreda, Davide, Oliva, Elena, Jeannin, Guido, Salviani, Chiara, Emmi, Giacomo, Bodria, Monica, Sinico, Renato, Moroni, Gabriella, Ramirez, Giuseppe, Bozzolo, Enrica, Tombetti, Enrico, Monti, Sara, Bracaglia, Claudia, Marucci, Giulia, Pastore, Serena, Esposito, Pasquale, Catanoso, Maria, Crapella, Barbara, Montini, Giovanni, Roperto, Rosa, Materassi, Marco, Rossi, Giovanni, Badalamenti, Salvatore, Yeung, Rae, Romagnani, Paola, Ghiggeri, Gian Marco, Noone, Damien, and Vaglio, Augusto

Abstract

Background and objectives. Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is extremely rare in children. We report the clinico-pathological features, long-term outcomes, and prognostic factors of a large paediatric cohort of patients with ANCA-associated kidney vasculitis. Design, setting, participants, and measurements. This retrospective study included 85 consecutive patients with kidney biopsy-proven ANCA-associated vasculitis followed at tertiary referral centres in Italy and Canada. Kidney biopsies were categorised as focal, crescentic, sclerotic or mixed following Berden's classification. The prognostic significance of baseline clinical, laboratory and histological findings was analysed with respect to kidney failure or chronic kidney disease (CKD) 3-5/kidney failure. Results. Fifty-three patients had microscopic polyangiitis (62%) and 32 granulomatosis with polyangiitis (38%). Rapidly progressive glomerulonephritis was the most frequent presentation (39%); one third of the patients also had nephrotic-range proteinuria. Kidney biopsies were classified as focal in 21% of the patients, crescentic in 51%, sclerotic in 15% and mixed in 13%. Remission-induction therapies included cyclophosphamide in 78% of cases. Twenty-five patients (29%) reached kidney failure. The median time to kidney failure or last follow-up was 35 months (6-89) in the whole cohort, and 73 months (24-109) among the patients who did not reach this outcome. Cases with sclerotic histology showed significantly shorter kidney survival [HR 11.80 (95% CI 2.49-55.99)] and CKD 3-5-free survival [HR 8.88 (95% CI 2.43-32.48)] as compared with focal/mixed ones. Baseline eGFR, low serum albumin, hypertension, central nervous system complications and sclerotic histology, which reflected severe kidney involvement, were associated with both kidney failure or CKD stage 3-5/kidney failure at unadjusted analysis; no independent prognostic factors emerged at multivariate analysis. Conclusions.

Published
2021

35. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux

Author

Verbitsky, Miguel, primary, Krithivasan, Priya, additional, Batourina, Ekaterina, additional, Khan, Atlas, additional, Graham, Sarah E., additional, Marasà, Maddalena, additional, Kim, Hyunwoo, additional, Lim, Tze Y., additional, Weng, Patricia L., additional, Sánchez-Rodríguez, Elena, additional, Mitrotti, Adele, additional, Ahram, Dina F., additional, Zanoni, Francesca, additional, Fasel, David A., additional, Westland, Rik, additional, Sampson, Matthew G., additional, Zhang, Jun Y., additional, Bodria, Monica, additional, Kil, Byum Hee, additional, Shril, Shirlee, additional, Gesualdo, Loreto, additional, Torri, Fabio, additional, Scolari, Francesco, additional, Izzi, Claudia, additional, van Wijk, Joanna A.E., additional, Saraga, Marijan, additional, Santoro, Domenico, additional, Conti, Giovanni, additional, Barton, David E., additional, Dobson, Mark G., additional, Puri, Prem, additional, Furth, Susan L., additional, Warady, Bradley A., additional, Pisani, Isabella, additional, Fiaccadori, Enrico, additional, Allegri, Landino, additional, Degl'Innocenti, Maria Ludovica, additional, Piaggio, Giorgio, additional, Alam, Shumyle, additional, Gigante, Maddalena, additional, Zaza, Gianluigi, additional, Esposito, Pasquale, additional, Lin, Fangming, additional, Simões-e-Silva, Ana Cristina, additional, Brodkiewicz, Andrzej, additional, Drozdz, Dorota, additional, Zachwieja, Katarzyna, additional, Miklaszewska, Monika, additional, Szczepanska, Maria, additional, Adamczyk, Piotr, additional, Tkaczyk, Marcin, additional, Tomczyk, Daria, additional, Sikora, Przemyslaw, additional, Mizerska-Wasiak, Malgorzata, additional, Krzemien, Grazyna, additional, Szmigielska, Agnieszka, additional, Zaniew, Marcin, additional, Lozanovski, Vladimir J., additional, Gucev, Zoran, additional, Ionita-Laza, Iuliana, additional, Stanaway, Ian B., additional, Crosslin, David R., additional, Wong, Craig S., additional, Hildebrandt, Friedhelm, additional, Barasch, Jonathan, additional, Kenny, Eimear E., additional, Loos, Ruth J.F., additional, Levy, Brynn, additional, Ghiggeri, Gian Marco, additional, Hakonarson, Hakon, additional, Latos-Bieleńska, Anna, additional, Materna-Kiryluk, Anna, additional, Darlow, John M., additional, Tasic, Velibor, additional, Willer, Cristen, additional, Kiryluk, Krzysztof, additional, Sanna-Cherchi, Simone, additional, Mendelsohn, Cathy L., additional, and Gharavi, Ali G., additional

Published
2021
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37. Comparative Study Between Functional MR Urography and Renal Scintigraphy to Evaluate Drainage Curves and Split Renal Function in Children With Congenital Anomalies of Kidney and Urinary Tract (CAKUT)

Author

Damasio, Maria Beatrice, primary, Bodria, Monica, additional, Dolores, Michael, additional, Durand, Emmanuel, additional, Sertorio, Fiammetta, additional, Wong, Michela C. Y., additional, Dacher, Jean-Nicolas, additional, Hassani, Adnan, additional, Pistorio, Angela, additional, Mattioli, Girolamo, additional, Magnano, Gianmichele, additional, and Vivier, Pierre H., additional

Published
2020
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38. The switch from proteasome to immunoproteasome is increased in circulating cells of patients with fast progressive immunoglobulin A nephropathy and associated with defective CD46 expression.

Author

Peruzzi, Licia, Coppo, Rosanna, Cocchi, Enrico, Loiacono, Elisa, Bergallo, Massimilano, Bodria, Monica, Vergano, Luca, Krutova, Alexandra, Russo, Maria Luisa, Amore, Alessandro, Lundberg, Sigrid, Maixerova, Dita, Tesar, Vladimir, Perkowska-Ptasińska, Agnieszka, Durlik, Magdalena, Goumenos, Dimitris, Papasotiriou, Marios, Galesic, Kresimir, Toric, Luka, and Papagianni, Aikaterini

Subjects
IGA glomerulonephritis, CD46 antigen, GENOME-wide association studies, HISTOCOMPATIBILITY class I antigens, REGULATORY T cells, GENETIC variation
Abstract

The proteasome to immunoproteasome (iPS) switch consists of β1, β2 and β5 subunit replacement by low molecular weight protein 2 (LMP2), LMP7 and multicatalytic endopeptidase-like complex-1 (MECL1) subunits, resulting in a more efficient peptide preparation for major histocompatibility complex 1 (MHC-I) presentation. It is activated by toll-like receptor (TLR) agonists and interferons and may also be influenced by genetic variation. In a previous study we found an iPS upregulation in peripheral cells of patients with immunoglobulin A nephropathy (IgAN). We aimed to investigate in 157 IgAN patients enrolled through the multinational Validation Study of the Oxford Classification of IgAN (VALIGA) study the relationships between iPS switch and estimated glomerular filtration rate (eGFR) modifications from renal biopsy to sampling. Patients had a previous long follow-up (6.4 years in median) that allowed an accurate calculation of their slope of renal function decline. We also evaluated the effects of the PSMB8/PSMB9 locus (rs9357155) associated with IgAN in genome-wide association studies and the expression of messenger RNAs (mRNAs) encoding for TLRs and CD46, a C3 convertase inhibitor, acting also on T-regulatory cell promotion, found to have reduced expression in progressive IgAN. We detected an upregulation of LMP7/β5 and LMP2/β1 switches. We observed no genetic effect of rs9357155. TLR4 and TLR2 mRNAs were found to be significantly associated with iPS switches, particularly TLR4 and LMP7/β5 (P < 0.0001). The LMP7/β5 switch was significantly associated with the rate of eGFR loss (P = 0.026), but not with eGFR at biopsy. Fast progressors (defined as the loss of eGFR >75th centile, i.e. −1.91 mL/min/1.73 m2/year) were characterized by significantly elevated LMP7/β5 mRNA (P = 0.04) and low CD46 mRNA expression (P < 0.01). A multivariate logistic regression model, categorizing patients by different levels of kidney disease progression, showed a high prediction value for the combination of high LMP7/β5 and low CD46 expression. [ABSTRACT FROM AUTHOR]

Published
2021
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39. Erratum: Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))

Author

Sanna-Cherchi, Simone, Khan, Kamal, Westland, Rik, Krithivasan, Priya, Fievet, Lorraine, Rasouly, Hila Milo, Ionita-Laza, Iuliana, Capone, Valentina P., Fasel, David A., Kiryluk, Krzysztof, Kamalakaran, Sitharthan, Bodria, Monica, Otto, Edgar A., Sampson, Matthew G., Gillies, Christopher E., Vega-Warner, Virginia, Vukojevic, Katarina, Pediaditakis, Igor, Makar, Gabriel S., Mitrotti, Adele, Verbitsky, Miguel, Martino, Jeremiah, Liu, Qingxue, Na, Young Ji, Goj, Vinicio, Ardissino, Gianluigi, Gigante, Maddalena, Gesualdo, Loreto, Janezcko, Magdalena, Zaniew, Marcin, Mendelsohn, Cathy Lee, Shril, Shirlee, Hildebrandt, Friedhelm, van Wijk, Joanna A.E., Arapovic, Adela, Saraga, Marijan, Allegri, Landino, Izzi, Claudia, Scolari, Francesco, Tasic, Velibor, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Mane, Shrikant, Goldstein, David B., Lifton, Richard P., Katsanis, Nicholas, Davis, Erica E., Gharavi, Ali G., Pediatric surgery, ACS - Microcirculation, and Amsterdam Reproduction & Development (AR&D)

Abstract

(The American Journal of Human Genetics 101, 789–802; November 2, 2017) In the version of this paper originally published, the author's name Anna Materna-Kiryluk was incorrectly hyphenated. It appears correctly here and online. The authors apologize for this error.

Published
2017
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40. Genomic analyses to guide diagnosis and treatment in congenital anomalies of the kidney and urinary tract (CAKUT)

Author

Bodria, Monica

Subjects
MED/14, Non compilare, CAKUT
Abstract

Congenital anomalies of the kidneys and urinary tract are the leading cause of end stage renal disease (ESRD) in children and young adults. CAKUT diagnosis is currently based on imaging studies and It is classified using descriptive anatomic criteria which omit the underlying pathogenetic and molecular mechanisms. Studies from our group indicate that a large fraction of CAKUT is attributable to rare genetic variants with large effect size. In particular, both point mutations and structural genomic variants (copy number variations, CNVs), detectable by whole exome sequencing (WES) or DNA microarrays, respectively, account for 10 to 30% of the cases. Nevertheless, genetic tests are often not performed or not clinically indicated, thus limiting prognosis and medical management. Here we present a new multi-institutional Italian study group on CAKUT, composed of a network of clinical and basic investigators in adult and pediatric nephrology and urology. The group aims at the recruitment and clinical characterization of 5,000 patients affected by CAKUT to conduct detailed clinical characterization and perform research DNA microarrays and WES in all patients (in collaboration with Columbia University). To date, 30 Italian centers have an approved IRB are actively enrolling for these studies or they are in the process of submitting or activating the IRB in order to start enrolling patients. We currently recruited and characterized 1,482 independent index patients. We plan to reach the target goal of 5,000 patients in four years. The deep clinical and phenotypic characterization will allow precise anatomical classification of disease. Genetic data will be use to guide deep phenotyping (ex imaging studies, metabolic tests, neurodevelopmental tests). The longitudinal design will allow identification of both genetic and non genetic prognostic factors. Finally, this project aims at a reclassification of CAKUT based on underlying molecular genetics mechanisms, in order to improve renal and overall patient outcome

Published
2017

41. The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Author

Verbitsky, Miguel, primary, Westland, Rik, additional, Perez, Alejandra, additional, Kiryluk, Krzysztof, additional, Liu, Qingxue, additional, Krithivasan, Priya, additional, Mitrotti, Adele, additional, Fasel, David A., additional, Batourina, Ekaterina, additional, Sampson, Matthew G., additional, Bodria, Monica, additional, Werth, Max, additional, Kao, Charlly, additional, Martino, Jeremiah, additional, Capone, Valentina P., additional, Vivante, Asaf, additional, Shril, Shirlee, additional, Kil, Byum Hee, additional, Marasà, Maddalena, additional, Zhang, Jun Y., additional, Na, Young-Ji, additional, Lim, Tze Y., additional, Ahram, Dina, additional, Weng, Patricia L., additional, Heinzen, Erin L., additional, Carrea, Alba, additional, Piaggio, Giorgio, additional, Gesualdo, Loreto, additional, Manca, Valeria, additional, Masnata, Giuseppe, additional, Gigante, Maddalena, additional, Cusi, Daniele, additional, Izzi, Claudia, additional, Scolari, Francesco, additional, van Wijk, Joanna A. E., additional, Saraga, Marijan, additional, Santoro, Domenico, additional, Conti, Giovanni, additional, Zamboli, Pasquale, additional, White, Hope, additional, Drozdz, Dorota, additional, Zachwieja, Katarzyna, additional, Miklaszewska, Monika, additional, Tkaczyk, Marcin, additional, Tomczyk, Daria, additional, Krakowska, Anna, additional, Sikora, Przemyslaw, additional, Jarmoliński, Tomasz, additional, Borszewska-Kornacka, Maria K., additional, Pawluch, Robert, additional, Szczepanska, Maria, additional, Adamczyk, Piotr, additional, Mizerska-Wasiak, Malgorzata, additional, Krzemien, Grazyna, additional, Szmigielska, Agnieszka, additional, Zaniew, Marcin, additional, Dobson, Mark G., additional, Darlow, John M., additional, Puri, Prem, additional, Barton, David E., additional, Furth, Susan L., additional, Warady, Bradley A., additional, Gucev, Zoran, additional, Lozanovski, Vladimir J., additional, Tasic, Velibor, additional, Pisani, Isabella, additional, Allegri, Landino, additional, Rodas, Lida M., additional, Campistol, Josep M., additional, Jeanpierre, Cécile, additional, Alam, Shumyle, additional, Casale, Pasquale, additional, Wong, Craig S., additional, Lin, Fangming, additional, Miranda, Débora M., additional, Oliveira, Eduardo A., additional, Simões-e-Silva, Ana Cristina, additional, Barasch, Jonathan M., additional, Levy, Brynn, additional, Wu, Nan, additional, Hildebrandt, Friedhelm, additional, Ghiggeri, Gian Marco, additional, Latos-Bielenska, Anna, additional, Materna-Kiryluk, Anna, additional, Zhang, Feng, additional, Hakonarson, Hakon, additional, Papaioannou, Virginia E., additional, Mendelsohn, Cathy L., additional, Gharavi, Ali G., additional, and Sanna-Cherchi, Simone, additional

Published
2018
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42. Ofatumumab‐associated acute respiratory manifestations: clinical characteristics and treatment

Author

Bonanni, Alice, Bertelli, Enrica, Moscatelli, Andrea, Lampugnani, Elisabetta, Bodria, Monica, Ravani, Pietro, and Ghiggeri, Gian Marco

Subjects
Male, Nephrotic Syndrome, Adolescent, Respiratory Tract Diseases, Antibodies, Monoclonal, Antineoplastic Agents, Antibodies, Monoclonal, Humanized, Bronchodilator Agents, Child, Preschool, Humans, Albuterol, Female, Child, Letter to the Editor
Published
2016

43. ANCA-associated vasculitis in childhood: recent advances

Author

Calatroni, Marta, primary, Oliva, Elena, additional, Gianfreda, Davide, additional, Gregorini, Gina, additional, Allinovi, Marco, additional, Ramirez, Giuseppe A., additional, Bozzolo, Enrica P., additional, Monti, Sara, additional, Bracaglia, Claudia, additional, Marucci, Giulia, additional, Bodria, Monica, additional, Sinico, Renato A., additional, Pieruzzi, Federico, additional, Moroni, Gabriella, additional, Pastore, Serena, additional, Emmi, Giacomo, additional, Esposito, Pasquale, additional, Catanoso, Mariagrazia, additional, Barbano, Giancarlo, additional, Bonanni, Alice, additional, and Vaglio, Augusto, additional

Published
2017
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44. Spectrum Of Steroid-Resistant And Congenital Nephrotic Syndrome In Children: The Podonet Registry Cohort

Author

Trautmann, Agnes, Bodria, Monica, Ozaltin, Fatih, Gheisari, Alaleh, Melk, Anette, Azocar, Marta, Anarat, Ali, Caliskan, Salim, Emma, Francesco, Gellermann, Jutta, Oh, Jun, Baskin, Esra, Ksiazek, Joanna, Remuzzi, Giuseppe, Erdogan, Ozlem, Akman, Sema, Dusek, Jiri, Davitaia, Tinatin, Oezkaya, Ozan, and Papachristou, Fotios

Abstract

Background and objectives Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome.

Published
2015

47. Mouse and human studies support DSTYKloss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies

Author

Martino, Jeremiah, Liu, Qingxue, Vukojevic, Katarina, Ke, Juntao, Lim, Tze Y., Khan, Atlas, Gupta, Yask, Perez, Alejandra, Yan, Zonghai, Milo Rasouly, Hila, Vena, Natalie, Lippa, Natalie, Giordano, Jessica L., Saraga, Marijan, Saraga-Babic, Mirna, Westland, Rik, Bodria, Monica, Piaggio, Giorgio, Bendapudi, Pavan K., Iglesias, Alejandro D., Wapner, Ronald J., Tasic, Velibor, Wang, Fan, Ionita-Laza, Iuliana, Ghiggeri, Gian Marco, Kiryluk, Krzysztof, Sampogna, Rosemary V., Mendelsohn, Cathy L., D’Agati, Vivette D., Gharavi, Ali G., and Sanna-Cherchi, Simone

Abstract

Previous work identified rare variants in DSTYKassociated with human congenital anomalies of the kidney and urinary tract (CAKUT). Here, we present a series of mouse and human studies to clarify the association, penetrance, and expressivity of DSTYKvariants.

Published
2023
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48. Rituximab in Children with Steroid-Dependent Nephrotic Syndrome

Author

Ravani, Pietro, primary, Rossi, Roberta, additional, Bonanni, Alice, additional, Quinn, Robert R., additional, Sica, Felice, additional, Bodria, Monica, additional, Pasini, Andrea, additional, Montini, Giovanni, additional, Edefonti, Alberto, additional, Belingheri, Mirco, additional, De Giovanni, Donatella, additional, Barbano, Giancarlo, additional, Degl’Innocenti, Ludovica, additional, Scolari, Francesco, additional, Murer, Luisa, additional, Reiser, Jochen, additional, Fornoni, Alessia, additional, and Ghiggeri, Gian Marco, additional

Published
2015
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49. FP112THE PROTEASOME TO IMMUNOPROTEASOME SWITCH IN IGA NEPHROPATHY AND ITS GENETIC CONTROL: A POST-VALIGA EUROPEAN RESEARCH STUDY

Author

Peruzzi, Licia, primary, Loiacono, Elisa, additional, Bodria, Monica, additional, Amore, Alessandro, additional, Vergano, Luca, additional, Lundberg, Sigrid, additional, Perkowska-Ptasińska, Agnieszka, additional, Goumenos, Dimitris, additional, Galesic, Kresimir, additional, Papagiannis, Aik, additional, Stangou, Maria, additional, Gharavi, Ali, additional, Kiryluk, Krzysztof, additional, and Coppo, Rosanna, additional

Published
2015
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50. Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children

Author

Trautmann, Agnes, primary, Bodria, Monica, additional, Ozaltin, Fatih, additional, Gheisari, Alaleh, additional, Melk, Anette, additional, Azocar, Marta, additional, Anarat, Ali, additional, Caliskan, Salim, additional, Emma, Francesco, additional, Gellermann, Jutta, additional, Oh, Jun, additional, Baskin, Esra, additional, Ksiazek, Joanna, additional, Remuzzi, Giuseppe, additional, Erdogan, Ozlem, additional, Akman, Sema, additional, Dusek, Jiri, additional, Davitaia, Tinatin, additional, Özkaya, Ozan, additional, Papachristou, Fotios, additional, Firszt-Adamczyk, Agnieszka, additional, Urasinski, Tomasz, additional, Testa, Sara, additional, Krmar, Rafael T., additional, Hyla-Klekot, Lidia, additional, Pasini, Andrea, additional, Özcakar, Z. Birsin, additional, Sallay, Peter, additional, Cakar, Nilgun, additional, Galanti, Monica, additional, Terzic, Joelle, additional, Aoun, Bilal, additional, Caldas Afonso, Alberto, additional, Szymanik-Grzelak, Hanna, additional, Lipska, Beata S., additional, Schnaidt, Sven, additional, and Schaefer, Franz, additional

Published
2015
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