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1. 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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2. 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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3. 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

4. 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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6. The Intrarenal Reflux Diagnosed by Contrast-Enhanced Voiding Urosonography (ceVUS): A Reason for the Reclassification of Vesicoureteral Reflux and New Therapeutic Approach?

Author

Saraga, Marijan, Saraga-Babić, Mirna, Arapović, Adela, Vukojević, Katarina, Pogorelić, Zenon, and Simičić Majce, Ana

Subjects
VESICO-ureteral reflux, URINARY tract infections, BLADDER, ANTIBIOTIC prophylaxis, DIAGNOSIS
Abstract

Vesicoureteral reflux (VUR) is defined as the urine backflow from the urinary bladder to the pyelo-caliceal system. In contrast, intrarenal reflux (IRR) is the backflow of urine from the renal calyces into the tubulointerstitial space. VURs, particularly those associated with IRR can result in reflux nephropathy when accompanied by urinary tract infection (UTI). The prevalence of IRR in patients with diagnosed VUR is 1–11% when using voiding cystourethrography (VCUG), while 11.9–61% when applying the contrast-enhanced voiding urosonography (ceVUS). The presence of IRR diagnosed by VCUG often correlates with parenchymal scars, when diagnosed by a 99mTc dimercaptosuccinic acid scan (DMSA scan), mostly in kidneys with high-grade VURs, and when diagnosed by ceVUS, it correlates with the wide spectrum of parenchymal changes on DMSA scan. The study performed by both ceVUS and DMSA scans showed IRRs associated with non-dilated VURs in 21% of all detected VURs. A significant difference regarding the existence of parenchymal damage was disclosed between the IRR-associated and IRR-non-associated VURs. A higher portion of parenchymal changes existed in the IRR-associated VURs, regardless of the VUR grade. That means that kidneys with IRR-associated VURs represent the high-risk group of VURs, which must be considered in the future classification of VURs. When using ceVUS, 62% of places where IRR was found were still unaffected by parenchymal changes. That was the basis for our recommendation of preventive use of long-term antibiotic prophylaxis until the IRR disappearance, regardless of the VUR grade. We propose a new classification of VURs using the ceVUS method, in which each VUR grade is subdivided based on the presence of an IRR. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Immunohistochemical expression pattern of RIP5, FGFR1, FGFR2 and HIP2 in the normal human kidney development

Author

Racetin, Anita, Raguž, Fila, Durdov, Merica Glavina, Kunac, Nenad, Saraga, Marijan, Sanna-Cherchi, Simone, Šoljić, Violeta, Martinović, Vlatka, Petričević, Joško, Kostić, Sandra, Mardešić, Snježana, Tomaš, Sandra Zekić, Kablar, Boris, Restović, Ivana, Lozić, Mirela, Filipović, Natalija, Saraga-Babić, Mirna, and Vukojević, Katarina

Published
2019
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9. 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

10. 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

14. C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy

Author

Garam, Nóra, Prohászka, Zoltán, Szilágyi, Ágnes, Aigner, Christof, Schmidt, Alice, Gaggl, Martina, Sunder-Plassmann, Gere, Bajcsi, Dóra, Brunner, Jürgen, Dumfarth, Alexandra, Cejka, Daniel, Flaschberger, Stefan, Flögelova, Hana, Haris, Ágnes, Hartmann, Ágnes, Heilos, Andreas, Mueller, Thomas, Rusai, Krisztina, Arbeiter, Klaus, Hofer, Johannes, Jakab, Dániel, Sinkó, Mária, Szigeti, Erika, Bereczki, Csaba, Janko, Viktor, Kelen, Kata, Reusz, György S., Szabó, Attila J., Klenk, Nóra, Kóbor, Krisztina, Kojc, Nika, Knechtelsdorfer, Maarten, Laganovic, Mario, Lungu, Adrian Catalin, Meglic, Anamarija, Rus, Rina, Kersnik-Levart, Tanja, Macioniene, Ernesta, Miglinas, Marius, Pawłowska, Anna, Stompór, Tomasz, Podracka, Ludmila, Rudnicki, Michael, Mayer, Gert, Romana Rysava, Reiterova, Jana, Saraga, Marijan, Tomáš Seeman, Zieg, Jakub, Sládková, Eva, Szabó, Tamás, Capitanescu, Andrei, Stancu, Simona, Tisljar, Miroslav, Galesic, Kresimir, Tislér, András, Vainumäe, Inga, Windpessl, Martin, Zaoral, Tomas, Zlatanova, Galia, and Csuka, Dorottya

Published
2019
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16. Widespread kallikrein expression during human kidney development becomes restricted to tubules with a reduced number of primary cilia in postnatal kidneys

Author

Ogorevc, Marin, Gotovac, Ivona, Mardesic, Snjezana, Vukojevic, Katarina, Saraga, Marijan, Glavina Durdov, Merica, and Saraga-Babic, Mirna

Subjects
Primary cilia, Kallikrein, Kidney Development
Abstract

Aims: The primary cilium is a signalling organelle present in most cell types and it has a crucial role in the regulation of development and homeostasis. Kallikrein is an enzyme that is part of the kallilkrein-kinin system involved in regulation of natriuresis and blood pressure. Our goal was to determine the relationship between primary cilia and kallikrein expression in the developing human mesonephros and metanephros and postnatal kidneys. Methods: We used double immunofluorescence to analyze kallikrein and acetylated α-tubulin (primary cilia marker) expression in 5- to 16- week-old human conceptuses and postnatal kidneys. The density of primary cilia was calculated using ImageJ as the ratio of the number of cilia counted and the length of the apical surface of tubules in mm. Statistical analysis was performed in GraphPad Prism. Results: Our preliminary results show that, during development, diffuse kallikrein expression characterized both podocytes and parietal epithelial cells (PECs) of renal corpuscles, while only PECs retained primary cilia past the embryonic period (Figure 1, a-c). In the postnatal kidney, the entire corpuscle became devoid of kallikrein, while only some tubules, morphologically resembling proximal tubules, demonstrated strong apical expression (Figure 1, d). When comparing postnatal kidney tubules with and without kallikrein expression, a noticeable reduction in the number of primary cilia in kallikrein-positive tubules was observed (Figure 1, e-j). Statistical analysis showed a significant difference (p

Published
2023

18. 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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19. 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

20. Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population

Author

Horaček, Matija, primary, Nikuševa Martić, Tamara, additional, Šenjug, Petar, additional, Šenjug Perica, Marija, additional, Oroz, Maja, additional, Kuzmac, Sania, additional, Klarić, Dragan, additional, Glavina Durdov, Merica, additional, Saraga, Marijan, additional, Milošević, Danko, additional, Batinić, Danica, additional, Ćorić, Marijana, additional, Paić, Frane, additional, and Galešić Ljubanović, Danica, additional

Published
2022
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21. The Spectrum of Parenchymal Changes in Kidneys Affected by Intrarenal Reflux, Diagnosed by Contrast-Enhanced Voiding Urosonography and DMSA Scan

Author

Simičić Majce, Ana, primary, Arapović, Adela, additional, Čapkun, Vesna, additional, Brdar, Dubravka, additional, Brekalo, Marko, additional, Zebić, Ileana, additional, Barić, Ana, additional, Punda, Ante, additional, Saraga-Babić, Mirna, additional, Vukojević, Katarina, additional, and Saraga, Marijan, additional

Published
2022
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22. Differences in Immunohistochemical and Ultrastructural Features between Podocytes and Parietal Epithelial Cells (PECs) Are Observed in Developing, Healthy Postnatal, and Pathologically Changed Human Kidneys

Author

Ogorevc, Marin, primary, Kosovic, Ivona, additional, Filipovic, Natalija, additional, Bocina, Ivana, additional, Juric, Marija, additional, Benzon, Benjamin, additional, Mardesic, Snjezana, additional, Vukojevic, Katarina, additional, Saraga, Marijan, additional, Kablar, Boris, additional, and Saraga-Babic, Mirna, additional

Published
2022
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23. Congenital anomalies of the kidney and urinary tract (CAKUT)

Author

Racetin, Anita, Kelam, Nela, Filipović, Natalija, Martinović, Vlatka, Arapović, Adela, Saraga-Babić, Mirna, Saraga, Marijan, Vukojević, Katarina, Racetin, Anita, Kelam, Nela, Filipović, Natalija, Martinović, Vlatka, Arapović, Adela, Saraga-Babić, Mirna, Saraga, Marijan, and Vukojević, Katarina

Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are wide spectrum of prenatal malformations (isolated or as a part of syndromes), accounting for up to one quarter of overall birth defects and causes endstage renal disease in up to a half of these cases. The most sever CAKUT phenotypes arise from a disturbed differentiation or interaction of the ureteric bud and the metanephric mesenchyme. CAKUT can be triggered through interplay of various genetic and epigenetic factors, as well as by numerous extrinsic factors including maternal diabetes, medications, and folate and iron deficiency, highlighting environmental factors that modify expression of disease. Genetic impairments (about 40 monogenic isolated and about 150 as a part of a syndrome) underlay about 15% of cases with variable expressivity and incomplete penetrance. Copy number variations (CNVs) and submicroscopic chromosomal imbalances are diagnostic challenge. Early identification of mutations in genes which can lead to CAKUT can facilitate targeted therapy. Gene panels based on next generation sequencing technology (NGS) might elucidate and significantly improve the process of testing and may lead to proper and thereby more effective diagnosis of CAKUT., Kongenitalne anomalije bubrega i urinarnog trakta (CAKUT) predstavljaju širok spektar prenatalnih malformacija (izoliranih ili u sklopu sindroma), koje čine do jedne četvrtine ukupnih urođenih mana i uzrokuju završnu bubrežnu bolest u do polovice ovih slučajeva. Najteži CAKUT fenotipovi proizlaze iz poremećene diferencijacije ili interakcije mokraćovodnog pupoljka i metanefričkog mezenhima. CAKUT može nastati međudjelovanjem različitih genetskih i epigenetskih čimbenika, kao i zbog brojnih vanjskih čimbenika kao što su dijabetes majke, lijekovi, nedostatak folata i željeza, uz naglasak na čimbenike okoliša koji modificiraju ekspresiju bolesti. Genetski poremećaji (oko 40 izoliranih gena i oko 150 koji su dio sindroma) su u pozadini oko 15% slučajeva s promjenjivim izražajem i nepotpunom penetrantnosti. Varijacije broja kopija i submikroskopske kromosomske neravnoteže predstavljaju dijagnostički izazov. Rano prepoznavanje mutacija u genima koje mogu dovesti do CAKUT-a olakšali bi ciljanu terapiju. Paneli gena temeljeni na tehnologiji sekvenciranja sljedeće generacije mogli bi razjasniti i značajno poboljšati proces testiranja i dovesti do ispravne i učinkovitije dijagnoze CAKUT-a.

Published
2022

24. Nefrotski sindrom u dječjoj dobi i nove preporuke o njegovom liječenju

Author

Saraga, Marijan and Saraga, Marijan

Abstract

Nefrotski sindrom (NS) je je najčešća glomerulska bolest u dječjoj dobi, iako je njegova incidencija 2–7/100 000 djece na godinu. NS se može podijeliti prema dobi pojavljivanja, mogućem pojavljivanju u članova obitelji, mogućem pojavljivanju u sklopu sindroma, prema tome da li zahvaća samo bubreg ili nastaje u sklopu neke bolesti. Prema patohistološkom nalazu NS također može biti podijeljen na bolest minimalnih promjena, fokalnu segmentalnu glomerulosklerozu, difuznu mezangijsku proliferaciju i IgM nefropatiju. U ovom radu analiziramo aktualne smjernice o vođenju i liječenju djece s NS., Nephrotic syndrome (NS) is the most frequent glomerular disease in the childhood with incidence of 2–7/100000 children/year. NS can be divided regarding the age of occurence, possible familiar appearance, whether it is a part of certain syndrome or comes alone, whether it affects the kidney only or it apears together with other diseases. According the pathohistological characteristics, NS can be divided in minimal change disease, focal segmental glomerulosclerosis, difusse mesangial sclerosis, and IgM nephropathy. In this article we discuss actual guidelines for the management and therapy of NS.

Published
2022

25. 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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26. EPIDEMIOLOGICAL DATA ON RENAL BIOPSIES IN SOUTHERN CROATIA – A SINGLE CENTER REPORT OF 22-YEAR EXPERIENCE AT SPLIT UNIVERSITY HOSPITAL CENTER.

Author

ŠKARO, DIJANA BORIĆ, FILIPOVIĆ, NATALIJA, JELIČIĆ, IVO, MIZDRAK, MAJA, HADJINA, IVANA TADIN, DURDOV, MERICA GLAVINA, SARAGA-BABIĆ, MIRNA, ARAPOVIĆ, ADELA, SARAGA, MARIJAN, LJUTIĆ, DRAGAN, and VUKOJEVIĆ, KATARINA

Subjects
RENAL biopsy, KIDNEY glomerulus diseases, UNIVERSITY hospitals, IGA glomerulonephritis, ACUTE kidney failure, LUPUS nephritis, FOCAL segmental glomerulosclerosis
Abstract

Copyright of Acta Medica Croatica is the property of Croatian Academy of Medical Sciences and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2023

27. 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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28. Prirođene anomalije bubrega i urinarnog trakta (CAKUT)

Author

Racetin, Anita, Kelam, Nela, Filipović, Natalija, Martinović, Vlatka, Arapović, Adela, Saraga- Babić, Mirna, Saraga, Marijan, and Vukojević, Katarina

Subjects
prirođene, anomalije, bubreg, urinarni trakt
Abstract

Kongenitalne anomalije bubrega i urinarnog trakta (CAKUT) predstavljaju širok spektar prenatalnih malformacija (izoliranih ili u sklopu sindroma), koje čine do jedne četvrtine ukupnih urođenih mana i uzrokuju završnu bubrežnu bolest u do polovice ovih slučajeva. Najteži CAKUT fenotipovi proizlaze iz poremećene diferencijacije ili interakcije mokraćovodnog pupoljka i metanefričkog mezenhima. CAKUT može nastati međudjelovanjem različitih genetskih i epigenetskih čimbenika, kao i zbog brojnih vanjskih čimbenika kao što su dijabetes majke, lijekovi, nedostatak folata i željeza, uz naglasak na čimbenike okoliša koji modificiraju ekspresiju bolesti. Genetski poremećaji (oko 40 izoliranih gena i oko 150 koji su dio sindroma) su u pozadini oko 15% slučajeva s promjenjivim izražajem i nepotpunom penetrantnosti. Varijacije broja kopija i submikroskopske kromosomske neravnoteže predstavljaju dijagnostički izazov. Rano prepoznavanje mutacija u genima koje mogu dovesti do CAKUT-a olakšali bi ciljanu terapiju. Paneli gena temeljeni na tehnologiji sekvenciranja sljedeće generacije mogli bi razjasniti i značajno poboljšati proces testiranja i dovesti do ispravne i učinkovitije dijagnoze CAKUT-a.

Published
2022

33. FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With Immune Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy

Author

Garam, Nóra, primary, Cserhalmi, Marcell, additional, Prohászka, Zoltán, additional, Szilágyi, Ágnes, additional, Veszeli, Nóra, additional, Szabó, Edina, additional, Uzonyi, Barbara, additional, Iliás, Attila, additional, Aigner, Christof, additional, Schmidt, Alice, additional, Gaggl, Martina, additional, Sunder-Plassmann, Gere, additional, Bajcsi, Dóra, additional, Brunner, Jürgen, additional, Dumfarth, Alexandra, additional, Cejka, Daniel, additional, Flaschberger, Stefan, additional, Flögelova, Hana, additional, Haris, Ágnes, additional, Hartmann, Ágnes, additional, Heilos, Andreas, additional, Mueller, Thomas, additional, Rusai, Krisztina, additional, Arbeiter, Klaus, additional, Hofer, Johannes, additional, Jakab, Dániel, additional, Sinkó, Mária, additional, Szigeti, Erika, additional, Bereczki, Csaba, additional, Janko, Viktor, additional, Kelen, Kata, additional, Reusz, György S., additional, Szabó, Attila J., additional, Klenk, Nóra, additional, Kóbor, Krisztina, additional, Kojc, Nika, additional, Knechtelsdorfer, Maarten, additional, Laganovic, Mario, additional, Lungu, Adrian Catalin, additional, Meglic, Anamarija, additional, Rus, Rina, additional, Kersnik Levart, Tanja, additional, Macioniene, Ernesta, additional, Miglinas, Marius, additional, Pawłowska, Anna, additional, Stompór, Tomasz, additional, Podracka, Ludmila, additional, Rudnicki, Michael, additional, Mayer, Gert, additional, Rysava, Romana, additional, Reiterova, Jana, additional, Saraga, Marijan, additional, Seeman, Tomáš, additional, Zieg, Jakub, additional, Sládková, Eva, additional, Stajic, Natasa, additional, Szabó, Tamás, additional, Capitanescu, Andrei, additional, Stancu, Simona, additional, Tisljar, Miroslav, additional, Galesic, Kresimir, additional, Tislér, András, additional, Vainumäe, Inga, additional, Windpessl, Martin, additional, Zaoral, Tomas, additional, Zlatanova, Galia, additional, Józsi, Mihály, additional, and Csuka, Dorottya, additional

Published
2021
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34. 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

35. Neurogenic bladder dysfunction – experiences of the Department of Pediatrics in University Hospital Centre Split

Author

Prgomet, Sandra, Saraga, Marijan, Arapović, Adela, Todorić, Jakov, Meštrović, Marija, Tomasović, Maja, Marušić, Eugenija, and Kuzmanić Šamija, Radenka

Subjects
Neurogenic bladder dysfunction, urodynamic testing, urologic and male genital diseases, female genital diseases and pregnancy complications
Abstract

Children with neurogenic bladder are monitored in theLaboratory for Urodynamics and in the Voiding DisordersClinic, Department of Pediatrics in University Hospital CentreSplit. We retrospectively analyzed data from the medicalrecords of children with neurogenic bladder in the periodfrom Year 2015 to 2019.Over a period of five years, neurogenic bladder was diagnosed in total of 20 girls and 16 boys. The mean age of diagnosis of neurogenic bladder was 8.3 years. The mean age ofchildren with congenital anomalies of the spine and spinalcord was 4.9 years, while the mean age of children withacquired patterns of neurogenic bladder dysfunction was 11.0years. Urodynamic examination was done in all children. Thediagnosis of neurogenic overactive detrusor and detrusorsphincter dyssynergia was made in a total of 13 children withcongenital anomalies and in 9 children with acquired anomalies. Thus, 61% of children had the most severe form of bladder dysfunction A total of fifteen children were treated withclean intermittent catheterization.The anticholinergic was administered to ten children withneurogenic overactive detrusor and congenital anomalies andto eight children with acquired neurogenic bladder causes.In most children with neurogenic bladder, early urodynamicdiagnosis and early initiation of treatment may preserve renalfunction.

Published
2021

39. 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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41. Types of Parenchymal Changes Diagnosed on DMSA Scans of Kidneys Affected by Different Grades of Vesicoureteral Reflux

Author

Arapović, Adela, primary, Punda, Ante, additional, Brdar, Dubravka, additional, Čapkun, Vesna, additional, Bajo, Diana, additional, Veljačić, Daniela, additional, Punda, Hrvoje, additional, Simičić-Majce, Ana, additional, Saraga-Babić, Mirna, additional, Vukojević, Katarina, additional, and Saraga, Marijan, additional

Published
2021
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43. CFHR5 Genetic Variations and Serum Levels in Patients with Immune-Complex-Mediated Membranoproliferative Glomerulonephritis and C3-Glomerulopathy

Author

Garam, Nóra, primary, Cserhalmi, Marcell, additional, Prohászka, Zoltán, additional, Szilágyi, Ágnes, additional, Veszeli, Nóra, additional, Szabó, Edina, additional, Uzonyi, Barbara, additional, Iliás, Attila, additional, Aigner, Christof, additional, Schmidt, Alice, additional, Gaggl, Martina, additional, Sunder-Plassmann, Gere, additional, Bajcsi, Dóra, additional, Brunner, Jürgen, additional, Dumfarth, Alexandra, additional, Cejka, Daniel, additional, Flaschberger, Stefan, additional, Flögelova, Hana, additional, Haris, Ágnes, additional, Hartmann, Ágnes, additional, Heilos, Andreas, additional, Mueller, Thomas, additional, Rusai, Krisztina, additional, Arbeiter, Klaus, additional, Hofer, Johannes, additional, Jakab, Dániel, additional, Sinkó, Mária, additional, Szigeti, Erika, additional, Bereczki, Csaba, additional, Janko, Viktor, additional, Kelen, Kata, additional, Reusz, György S., additional, Szabó, Attila J., additional, Klenk, Nóra, additional, Kóbor, Krisztina, additional, Kojc, Nika, additional, Knechtelsdorfer, Maarten, additional, Laganovic, Mario, additional, Lungu, Adrian Catalin, additional, Meglic, Anamarija, additional, Rus, Rina, additional, Kersnik-Levart, Tanja, additional, Macioniene, Ernesta, additional, Miglinas, Marius, additional, Pawłowska, Anna, additional, Stompór, Tomasz, additional, Podracka, Ludmila, additional, Rudnicki, Michael, additional, Mayer, Gert, additional, Rysava, Romana, additional, Reiterova, Jana, additional, Saraga, Marijan, additional, Seeman, Tomáš, additional, Zieg, Jakub, additional, Sládková, Eva, additional, Stajic, Natasa, additional, Szabó, Tamás, additional, Capitanescu, Andrei, additional, Stancu, Simona, additional, Tisljar, Miroslav, additional, Galesic, Kresimir, additional, Tislér, András, additional, Vainumäe, Inga, additional, Windpessl, Martin, additional, Zaoral, Tomas, additional, Zlatanova, Galia, additional, Józsi, Mihály, additional, and Csuka, Dorottya, additional

Published
2020
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44. Expression and localization of DAB1 and Reelin during normal human kidney development

Author

Racetin, Anita, primary, Jurić, Marija, additional, Filipović, Natalija, additional, Šolić, Ivana, additional, Kosović, Ivona, additional, Durdov, Merica Glavina, additional, Kunac, Nenad, additional, Tomaš, Sandra Zekić, additional, Saraga, Marijan, additional, Šoljić, Violeta, additional, Martinović, Vlatka, additional, Petričević, Joško, additional, Restović, Ivana, additional, Lasić, Valentina, additional, Kostić, Sandra, additional, Kablar, Boris, additional, Watanabe, Koichiro, additional, Katsuyama, Yu, additional, Babić, Mirna Saraga, additional, and Vukojević, Katarina, additional

Published
2019
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45. Expression of renal vitamin D receptors and metabolizing enzymes in IgA nephropathy

Author

Arapović, Adela, Šolić, Ivana, Racetin, Anita, Jurić, Marija, Čujić, Tanja, Kosović, Ivona, Borić, Dijana, Ljutić, Dragan, Saraga-Babić, Mirna, Vukojević, Katarina, Glavina Durdov, Merica, Prgomet, Sandra, Simičić Majce, Ana, Saraga, Marijan, and Filipović, Natalija

Subjects
urologic and male genital diseases, IgA nephropathy, VDR, 1-alpha-hydroxylase, CYP24A1
Abstract

Introduction: IgA nephropathy (IgAN) is principal cause of ESRD worldwide and the most common form of glomerulonephritis. Since kidney is a key player in vitamin D metabolism, disturbances of vitamin D metabolism are consequence of renal damage of different causality. There is no study investigating the expression pattern of renal vitamin D receptors (VDR) and metabolizing enzymes in IgA nephropathy. Material & methods: Immunoflurescent staining was used to determine the expression of VDR, 25-Hydroxyvitamin D3 1-alpha-hydroxylase (1α- OHase) and vitamin D3 24-hydroxylase (CYP24A1). There were 5 renal biopsies from adult patients and 10 from paediatric patients, as well as 6 control samples. Results: The expression of VDR was prominent in distal tubular cells (DTCs), while immunoreactivity of VDR in proximal tubular cells (PTCs) was weak. There was no difference between expression of VDR in tissues from control group and both, bioptate from IgA- nephritis patients (IgAN-P) from paediatric or adult populations. The expression of 1α-OHase, calcitriol synthesizing enzyme, was significantly lower in both paediatric and adult IgAN-P, in comparison with control renal tissues (p

Published
2019

46. Association of Appendicitis, Helicobacter Pylori Positive Gastritis and Thrombotic Thrombocytopenic Purpura in an Adolescent

Author

Arapović, Adela, Prgomet, Sandra, Saraga, Marijan, Kovačević, Tanja, Prohászka, Zoltan, and Despot, Ranka Marušić E, Radić J.

Subjects
hemic and lymphatic diseases, Adolescent, Helicobacter Pylori, Purpura, Thrombotic Thrombocytopenic
Abstract

BACKGROUND Thrombotic thrombocytopenic purpura (TTP) in children is a rare life-threatening syndrome, characterized by microangiopathic hemolytic anemia, thrombocytopenia with renal dysfunction, neurologic symptoms, and fever. TTP is usually caused by deficient activity of von Willebrand factor cleaving protease (ADAMTS13), due to either gene mutations or acquired via anti- ADAMTS13 autoantibodies. It can be triggered by bone marrow or solid organ transplantation, cardiothoracic-, abdominal-, and orthopedic surgeries, infections including very rarely Helicobacter pylori infection. CASE REPORT Here we report a case of a 16-year-old male with TTP, who presented with thrombocytopenia before an appendectomy. Seven days after surgery, our patient started to vomit, developed melena, and was admitted to our pediatric intensive care unit (PICU) with clinical presentation of shock. Gastroscopy revealed H. pylori positive hemorrhagic gastritis. The patient was treated by erythrocyte transfusions, fresh frozen plasma, human albumin, glucose-electrolyte solutions, vitamin K, platelet transfusion before implantation of central venous catheter, and antibiotics. After 36 hours, we started plasma exchange (PEX). Blood tests showed deficiency of ADAMTS13. Due to the presence of anti-ADAMTS13 autoantibodies, rituximab was administered. Due to generalized tonic-clonic seizures, he was artificially ventilated. Brain MR angiography showed small ischemic cerebro-vascular insult in the arteria cerebri media region. Despite immunosuppressive therapy and PEX, the patient did not improve completely until the H. pylori infection was eradicated. After which, he recovered completely. CONCLUSIONS We present a rare case of TTP accompanied with appendicitis and gastritis caused by H. pylori, where TTP improvement was dependent on H. pylori infection eradication.

Published
2019

47. Expression of Inversin and Dvl-1 in developing kidneys

Author

Šolić, Ivana, Racetin, Anita, Kosović, Ivona, Jurić, Marija, Filipović, Natalija, Saraga, Marijan, Saraga-Babić, Mirna, Arapović, Adela, and Vukojević, Katarina

Subjects
urogenital system, Inversin, Dvl-1, human embryo, kidney, immunofluorescence, development
Abstract

Introduction: Normal kidney development require complex activation of various signalling pathways. Wnt pathway is one of these pathways that is inhibited by Inversin through targeting cytoplasmic dishevelled Dvl1. The aim of this study was to explore the expression pattern of Inversin and Dvl-1 in fetal and postnatal kidney. Material & methods: The expression of Inversin and Dvl-1 was analyzed by double immunofluorescence on paraffin sections of 38- week-old fetal kidney, 1.5- and 7-years old human kidneys. The number of positive cells in proximal convoluted tubules (PCT), distal convoluted tubules (DCT) and in glomeruli were processed by ImageJ software and the data were analyzed by Kruskall Wallis and Dunn post hoc. Results: Inversin and Dvl-1 were expressed in fetal kidneys as in 1.5 and 7-year-old kidneys with different staining pattern comparing different stages and kidney structures. Inversin was highly expressed in PCT and DCT of 38-week-old fetal kidneys comparing to PCT and DCT of postnatal kidneys (P

Published
2019

48. JGA OF DEVELOPING, HEALTHY AND NEPHROTIC HUMAN KIDNEYS CO -EXPRESS RENIN AND CONNEXINS

Author

Kosović, Ivona, Filipović, Natalija, Vukojevic, Katarina, Saraga, Marijan, Glavina Durdov, Merica, Bočina, Ivana, and Saraga-Babić, Mirna

Subjects
urogenital system, kidney development, renin, connexins, nephrotic syndrome, blood pressure, sense organs
Abstract

Introduction: During early kidney development, renin progenitors appear within renal arteries and then gradually shift to juxtaglomerular apparatus (JGA) exclusively. JGA is a part of renin- angiotensin system (RAS) of blood pressure control and accommodates several different cell types, connected by intercellular communication proteins connexins (Cxs). Alterations in normal Cx expression are associated with vascular abnormalities and chronic kidney disease. Results of experimental studies are controversial, while studies on human kidneys are extremely rare. The aim of the present study was to describe changes in spatiotemporal expression of Cxs and renin within developing, postnatal and nephrotic human kidneys. Materials & methods: Human kidney tissue from 10 human conceptuses 8th to 38th weeks old, postnatal healthy and nephrotic kidneys was analyzed by electron microscopy and double immunofluorescence techniques, to detect localization and co- expression of Cx37, Cx40, Cx43 and Cx45 and renin in JGA. Results: Throughout development, renin was strongly expressed in the vasculature of JGA, collecting and distal tubules, and glomeruli. Similar expression pattern characterized postnatal healthy and nephrotic kidneys. JGA was characterized by strongest expression of Cx43, moderate expression of Cx40 and weak expression of Cx45 and Cx37. Cx45 was strongest in proximal tubules and Cx40 in distal tubules. Compared to healthy kidneys, nephrotic kidneys showed irregular and increased expression of Cx43 and decreased expression of Cx37 in JGA. Different levels of co-expression between renin and Cx40, Cx43, Cx45 and Cx37 characterized afferent arteriole of JGA. Conclusions: Wide distribution of renin progenitors in developing human kidneys indicate their various developmental roles, while their gradual restriction to JGA area imply their role in proper kidney vasculature development and blood pressure control. Nephrotic kidneys compared to developing and healthy postnatal kidneys showed differences in spatio-temporal patterning of Cxs and renin in JGA, pointing to proper cell communications as pre-requisite for blood pressure control.

Published
2019

50. Provjera točnosti formula za procjenu funkcijkog kapaciteta mokraćnog mjehura kod djece u odnosu na vrijednosti dobivene direktno raduionuklidnom cistografijom

Author

Veljačić, Daniela, Arapović, Adela, Prgomet, Sandra, and Saraga, Marijan

Subjects
volumen mokraćnog mjehura, direktna raduionuklidna cistografija
Abstract

Provedeno istraživanje je pokazalo kako se volumen procijenjen formulama značajno razlikuje od volumena dobivenog DRNC-om u pedijatrijskoj populaciji koja se liječi na Klinici za dječje bolesti KBC-a Split. Smatramo da je za još točnije rezultate i mogućnost izrade preciznijih nomograma potrebno povećati broj ispitanika te u istraživanje uključiti i ispitanike iz ostalih bolničkih centara koji primjenjuju DRNC kao dijagnostičku metodu.

Published
2018

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