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2. Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract

Author

Kołbuc, Marcin, Kołek, Mateusz F., Motyka, Rafał, Bieniaś, Beata, Habbig, Sandra, Burgmaier, Kathrin, Prikhodina, Larisa, Papizh, Svetlana, Tasic, Velibor, Okorn, Christine, Szczepańska, Maria, Kiliś-Pstrusińska, Katarzyna, Wasilewska, Anna, Adamczyk, Piotr, Tkaczyk, Marcin, Pańczyk-Tomaszewska, Małgorzata, Miklaszewska, Monika, Pawlaczyk, Krzysztof, Bukowska-Olech, Ewelina, Jamsheer, Aleksander, Jankauskiene, Augustina, König, Jens, Cheong, Hae Il, Ahn, Yo Han, Kaspar, Sophie, Sikora, Przemysław, Beck, Bodo B., and Zaniew, Marcin

Published
2024
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5. Humoral immune response and live-virus neutralization of the SARS-CoV-2 omicron (BA.1) variant after COVID-19 mRNA vaccination in children and young adults with chronic kidney disease

Author

Stich, Maximilian, Di Cristanziano, Veronica, Tönshoff, Burkhard, Weber, Lutz Thorsten, Dötsch, Jörg, Rammer, Marian Theodor, Rieger, Susanne, Heger, Eva, Garbade, Sven F., Burgmaier, Kathrin, Benning, Louise, Speer, Claudius, Habbig, Sandra, and Haumann, Sophie

Published
2023
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9. The carboxy‐terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC‐activation

Author

Dafinger, Claudia, Mandel, Amrei M, Braun, Alina, Göbel, Heike, Burgmaier, Kathrin, Massella, Laura, Mastrangelo, Antonio, Dötsch, Jörg, Benzing, Thomas, Weimbs, Thomas, Schermer, Bernhard, and Liebau, Max C

Subjects
Biochemistry and Cell Biology, Biological Sciences, Kidney Disease, Genetics, Polycystic Kidney Disease, Congenital Structural Anomalies, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Renal and urogenital, Cell Line, Humans, Immunohistochemistry, Phosphorylation, Polycystic Kidney, Autosomal Recessive, Protein Interaction Domains and Motifs, Receptors, Cell Surface, STAT3 Transcription Factor, Signal Transduction, src-Family Kinases, cilia, genetic kidney diseases, polycystic kidney disease, Medicinal and Biomolecular Chemistry, Clinical Sciences, Biochemistry & Molecular Biology, Biochemistry and cell biology, Medicinal and biomolecular chemistry
Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is mainly caused by variants in the PKHD1 gene, encoding fibrocystin (FC), a large transmembrane protein of incompletely understood cellular function. Here, we show that a C-terminal fragment of human FC can suppress a signalling module of the kinase SRC and signal transducer and activator of transcription 3 (STAT3). Consistently, we identified truncating genetic variants specifically affecting the cytoplasmic tail in ARPKD patients, found SRC and the cytoplasmic tail of fibrocystin in a joint dynamic protein complex and observed increased activation of both SRC and STAT3 in cyst-lining renal epithelial cells of ARPKD patients.

Published
2020

11. Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease

Author

Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph

Published
2022
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14. Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

Author

Eid, Loai Akram, Arbeiter, Klaus, Godefroid, Nathalie, Lombet, Jacques, De Mul, Aurélie, Feldkoetter, Markus, Zieg, Jakub, Grundmann, Franziska, Galiano, Matthias, Buchholz, Björn, Buescher, Anja, Häffner, Karsten, Gross, Oliver, Patzer, Ludwig, Oh, Jun, Haffner, Dieter, Bernhardt, Wanja, Schaefer, Susanne, Wygoda, Simone, Halbritter, Jan, Derichs, Ute, Klaus, Günter, Lechner, Felix, Ponsel, Sabine, König, Jens, Staude, Hagen, Wurm, Donald, Bald, Martin, Gessner, Michaela, Soliman, Neveen A., Ariceta, Gema, Gonzalez Rodriguez, Juan David, Ojeda, Francisco de la Cerda, Harambat, Jerome, Morin, Denis, Dossier, Claire, Dorval, Guillaume, Shroff, Rukshana, Stabouli, Stella, Hooman, Nakysa, Mencarelli, Francesca, Morello, William, Longo, Germana, Emma, Francesco, Jankauskiene, Augustina, Taranta-Janusz, Katarzyna, Zagozdzon, Ilona, Zachwieja, Katarzyna, Stanczyk, Malgorzata, Bienias, Beata, Litwin, Mieczyslaw, Morawiec-Knysak, Aurelia, Afonso, Alberto Caldas, Dunand, Oliver, Rachisan, Andreea, Miloševski-Lomić, Gordana, Papizh, Svetlana, Rus, Rina, Jilani, Houweyda, Atmis, Bahriye, Duzova, Ali, Soylu, Alper, Candan, Cengiz, Caliskan, Salim, Yilmaz, Alev, Gökce, İbrahim, Akinci, Nurver, Mir, Sevgi, Dursun, Ismail, Tabel, Yilmaz, Nalcacioglu, Hulya, Burgmaier, Kathrin, Brinker, Leonie, Erger, Florian, Beck, Bodo B., Benz, Marcus R., Bergmann, Carsten, Boyer, Olivia, Collard, Laure, Dafinger, Claudia, Fila, Marc, Kowalewska, Claudia, Lange-Sperandio, Bärbel, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Miklaszewska, Monika, Ortiz-Bruechle, Nadina, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Schild, Raphael, Seeman, Tomas, Sever, Lale, Sikora, Przemyslaw, Szczepanska, Maria, Teixeira, Ana, Thumfart, Julia, Uetz, Barbara, Weber, Lutz Thorsten, Wühl, Elke, Zerres, Klaus, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph

Published
2021
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17. Development of a tool for predicting HNF1B mutations in children with congenital anomalies of the kidneys and urinary tract – a retrospective multicenter study

Author

Kolbuc, Marcin, primary, Kolek, Mateusz, additional, Motyka, Rafal, additional, Bienias, Beata, additional, Habbig, Sandra, additional, Burgmaier, Kathrin, additional, Prikhodina, Larisa, additional, Papizh, Svetlana, additional, Tasic, Velibor, additional, Okorn, Christine, additional, Szczepanska, Maria, additional, Kilis-Pstrusinska, Katarzyna, additional, Wasilewska, Anna, additional, Adamczyk, Piotr, additional, Tkaczyk, Marcin, additional, Panczyk-Tomaszewska, Malgorzata, additional, Miklaszewska, Monika, additional, Pawlaczyk, Krzysztof, additional, Bukowska-Olech, Ewelina, additional, Jamsheer, Aleksander, additional, Jankauskiene, Augustina, additional, König, Jens, additional, Cheong, Hae Il, additional, Ahn, Yo Han, additional, Kaspar, Sophie, additional, Sikora, Przemyslaw, additional, Beck, Bodo, additional, and Zaniew, Marcin, additional

Published
2023
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18. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

Author

Ranguelov, Nadejda, Godefroid, Nathalie, Collard, Laure, Lombet, Jacques, Maquet, Julie, Schalk, Gesa, Querfeld, Uwe, Beck, Bodo B., Benzing, Thomas, Buettner, Reinhard, Grundmann, Franziska, Kurschat, Christine, Benz, Kerstin, Tzschoppe, Anja, Buchholz, Björn, Buescher, Rainer, Häffner, Karsten, Pohl, Martin, Gross, Oliver, Krügel, Jenny, Stock, Johanna, Patzer, Ludwig, Oh, Jun, Bernhardt, Wanja, Doyon, Anke, Vinke, Tobias, Sander, Anja, Henn, Michael, Derichs, Ute, Beetz, Rolf, Jeck, Nikola, Lange-Sperandio, Bärbel, Ponsel, Sabine, Kusser, Franziska, Uetz, Barbara, Benz, Marcus, Schmidt, Silke, Huppertz-Kessler, Christina, Kranz, Birgitta, Titieni, Andrea, Wurm, Donald, Leichter, Heinz E., Bald, Martin, Billing, Heiko, Nabhan, Marwa M., Lara, Luis Enrique, Papachristou, Fotios, Emma, Francesco, Cerkauskiene, Rimante, Azukaitis, Karolis, Wasilewska, Anna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Tkaczyk, Marcin, Sikora, Przemyslaw, Zaniew, Marcin, Niemirska, Ania, Antoniewicz, Jolanta, Lesiak, Justyna, Afonso, Alberto Caldas, Teixeira, Ana, Milosevski-Lomic, Gordana, Paripović, Dusan, Peco-Antic, Amira, Papizh, Svetlana, Bayazit, Aysun Karabay, Anarat, Ali, Soylu, Alper, Kavukcu, Salih, Candan, Cengiz, Caliskan, Salim, Canpolat, Nur, Emre, Sevinc, Alpay, Harika, Akinci, Nurver, Conkar, Secil, Poyrazoglu, Hakan M., Dusunsel, Ruhan, Burgmaier, Kathrin, Kunzmann, Kevin, Ariceta, Gema, Bergmann, Carsten, Buescher, Anja Katrin, Burgmaier, Mathias, Dursun, Ismail, Duzova, Ali, Eid, Loai, Erger, Florian, Feldkoetter, Markus, Galiano, Matthias, Geßner, Michaela, Goebel, Heike, Gokce, Ibrahim, Haffner, Dieter, Hooman, Nakysa, Hoppe, Bernd, Jankauskiene, Augustina, Klaus, Guenter, König, Jens, Litwin, Mieczyslaw, Massella, Laura, Mekahli, Djalila, Melek, Engin, Mir, Sevgi, Pape, Lars, Prikhodina, Larisa, Ranchin, Bruno, Schild, Raphael, Seeman, Tomas, Sever, Lale, Shroff, Rukshana, Soliman, Neveen A., Stabouli, Stella, Stanczyk, Malgorzata, Tabel, Yilmaz, Taranta-Janusz, Katarzyna, Testa, Sara, Thumfart, Julia, Topaloglu, Rezan, Weber, Lutz Thorsten, Wicher, Dorota, Wühl, Elke, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Zerres, Klaus, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph

Published
2018
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21. Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies

Author

Halawi, Abdul A., primary, Burgmaier, Kathrin, additional, Buescher, Anja K., additional, Dursun, Ismail, additional, Erger, Florian, additional, Galiano, Matthias, additional, Gessner, Michaela, additional, Gökce, Ibrahim, additional, Mekahli, Djalila, additional, Mir, Sevgi, additional, Obrycki, Lukasz, additional, Shroff, Rukshana, additional, Stabouli, Stella, additional, Szczepanska, Maria, additional, Teixeira, Ana, additional, Weber, Lutz T., additional, Wenzel, Andrea, additional, Wühl, Elke, additional, Zachwieja, Katarzyna, additional, Dötsch, Jörg, additional, Schaefer, Franz, additional, and Liebau, Max C., additional

Published
2023
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23. Prenatal parental decision-making and postnatal outcome in renal oligohydramnios

Author

Mehler, Katrin, Gottschalk, Ingo, Burgmaier, Kathrin, Volland, Ruth, Büscher, Anja K., Feldkötter, Markus, and Keller, Titus

Subjects
Oligohydramnios -- Diagnosis -- Patient outcomes, Decision making -- Analysis, Kidney diseases -- Diagnosis, Health
Abstract

Background Previous studies on renal oligohydramnios (ROH) report highly variable outcome and identify early onset of ROH and presence of extrarenal manifestations as predictors of adverse outcome in most cases. Data on termination of pregnancy (TOP) and associated parental decision-making processes are mostly missing, but context-sensitive for the interpretation of these findings. We provide here a comprehensive analysis on the diagnosis, prenatal decision-making and postnatal clinical course in all pregnancies with ROH at our medical centre over an 8-year period. Methods We report retrospective chart review data on 103 consecutive pregnancies from 2008 to 2015 with a median follow-up of 554 days. Results After ROH diagnosis, 38 families opted for TOP. This decision was associated with onset of ROH (p < 0.001), underlying renal disease (p = 0.001) and presence of extrarenal manifestations (p = 0.02). Eight infants died in utero and 8 cases were lost to follow-up. Of the 49 liveborn children, 11 received palliative and 38 underwent active care. Overall survival of the latter group was 84.2% (n = 32) corresponding to 31% of all pregnancies (32 out of 103) analysed. One third of the surviving infants needed renal replacement therapy during the first 6 weeks of life. Conclusions Over one third of pregnancies with ROH were terminated and the parental decision was based on risk factors associated with adverse outcome. Neonatal death was rare in the actively treated infants and the overall outcome promising. Our study illustrates that only careful analysis of the whole process, from prenatal diagnosis via parental decision-making to postnatal outcome, allows sensible interpretation of outcome data., Author(s): Katrin Mehler [sup.1] , Ingo Gottschalk [sup.2] , Kathrin Burgmaier [sup.3] , Ruth Volland [sup.4] , Anja K. Büscher [sup.5] , Markus Feldkötter [sup.6] , Titus Keller [sup.1] , [...]

Published
2018
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24. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

Author

Verploegen, Maartje F A, Vargas-Poussou, Rosa, Walsh, Stephen B, Alpay, Harika, Amouzegar, Atefeh, Ariceta Iraola, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A, Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J, Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A, Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J, Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B, Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R, Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, Universitat Autònoma de Barcelona, Institut Català de la Salut, [Verploegen MFA] Department of Nephrology, Radboud University Medical Center, Nijmegen, The Netherlands. [Vargas-Poussou R] Department of Genetics, Centre de Références MARHEA, Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris, Paris, France. [Walsh SB] Department of Renal Medicine, University College London, London, UK. [Alpay H] Division of Paediatric Nephrology, Faculty of Medicine, Marmara University, Istanbul, Turkey. [Amouzegar A] Division of Nephrology, Department of Medicine, Firoozgar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Perelló M] Servei de Nefrologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, Verploegen M. F. A., Vargas-Poussou R., Walsh S. B., ALPAY H., Amouzegar A., Ariceta G., ATMIŞ B., Bacchetta J., Barany P., Baron S., et al., Verploegen, Maartje F A, Vargas-Poussou, Rosa, Walsh, Stephen B, Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A, Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J, Houillier, Pascal, Kamperis, Konstantino, Kari, Jameela A, Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J, Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B, Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R, Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, and UCL - SSS/IREC/NEFR - Pôle de Néphrologie

Subjects
Internal Diseases, Hormones, Hormone Substitutes, and Hormone Antagonists::Hormones::Peptide Hormones::Parathyroid Hormone [CHEMICALS AND DRUGS], Homeòstasi, urologic and male genital diseases, Sağlık Bilimleri, İç Hastalıkları, Clinical Medicine (MED), Bartter syndomr, Transplantasyon, Gitelman Syndrome/complications, salt losing tubulopathies, Homeostasis, HYPERCALCIURIA, Klinik Tıp (MED), Child, enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::defectos congénitos del transporte tubular renal::síndrome de Gitelman [ENFERMEDADES], Klinik Tıp, Hyperparathyroidism, Tıp, Nefroloji, fenómenos fisiológicos::homeostasis [FENÓMENOS Y PROCESOS], Nephrology, Üroloji, Medicine, Gitelman syndrome, Ronyons - Malalties - Malformacions, Urology, CALCIUM, Phosphates, UROLOGY & NEPHROLOGY, Health Sciences, Humans, parathyroid hormone, HYPERPARATHYROIDISM, ÜROLOJİ VE NEFROLOJİ, hormonas, sustitutos de hormonas y antagonistas de hormonas::hormonas::hormonas peptídicas::hormona paratiroidea [COMPUESTOS QUÍMICOS Y DROGAS], phosphate, Transplantation, Internal Medicine Sciences, Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Tubular Transport, Inborn Errors::Bartter Syndrome [DISEASES], Dahili Tıp Bilimleri, Hormones peptídiques, CLINICAL MEDICINE, GENE, Bartter syndrome, Male Urogenital Diseases::Urologic Diseases::Kidney Diseases::Renal Tubular Transport, Inborn Errors::Gitelman Syndrome [DISEASES], Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Cross-Sectional Studies, Calcium, Bartter Syndrome/complications, Physiological Phenomena::Homeostasis [PHENOMENA AND PROCESSES], enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales::defectos congénitos del transporte tubular renal::síndrome de Bartter [ENFERMEDADES]
Abstract

European Reference Network for Rare Kidney Diseases (ERKNet) - European Union; Dutch Kidney Foundation [19OI06], Verploegen MFA, Vargas-Poussou R, Walsh SB, Alpay H, Amouzegar A, Ariceta G, Atmis B, Bacchetta J, Bárány P, Baron S, Bayrakci US, Belge H, Besouw M, Blanchard A, Bökenkamp A, Boyer O, Burgmaier K, Calò LA, Decramer S, Devuyst O, van Dyck M, Ferraro PM, Fila M, Francisco T, Ghiggeri GM, Gondra L, Guarino S, Hooman N, Hoorn EJ, Houillier P, Kamperis K, Kari JA, Konrad M, Levtchenko E, Lucchetti L, Lugani F, Marzuillo P, Mohidin B, Neuhaus TJ, Osman A, Papizh S, Perelló M, Rookmaaker MB, Conti VS, Santos F, Sawaf G, Serdaroglu E, Szczepanska M, Taroni F, Topaloglu R, Trepiccione F, Vidal E, Wan ER, Weber L, Yildirim ZY, Yüksel S, Zlatanova G, Bockenhauer D, Emma F, Nijenhuis T

Published
2022

26. Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Author

Burgmaier, Kathrin, Kilian, Samuel, Bammens, Bert, Benzing, Thomas, Billing, Heiko, Büscher, Anja, Galiano, Matthias, Grundmann, Franziska, Klaus, Günter, Mekahli, Djalila, Michel-Calemard, Laurence, Milosevski-Lomic, Gordana, Ranchin, Bruno, Sauerstein, Katja, Schaefer, Susanne, Shroff, Rukshana, Sterenborg, Rosalie, Verbeeck, Sarah, Weber, Lutz T., Wicher, Dorota, Wühl, Elke, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max C.

Published
2019
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27. A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care

Author

Lindemann, Christoph Heinrich, primary, Wenzel, Andrea, additional, Erger, Florian, additional, Middelmann, Lea, additional, Borde, Julika, additional, Hahnen, Eric, additional, Krauß, Denise, additional, Oehm, Simon, additional, Arjune, Sita, additional, Todorova, Polina, additional, Burgmaier, Kathrin, additional, Liebau, Max Christoph, additional, Grundmann, Franziska, additional, Beck, Bodo B., additional, and Müller, Roman-Ulrich, additional

Published
2022
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28. Clinical Characteristics and Courses of Patients With Autosomal Recessive Polycystic Kidney Disease-Mimicking Phenocopies

Author

Halawi, Abdul A., Burgmaier, Kathrin, Buescher, Anja K., Dursun, Ismail, Erger, Florian, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Mekahli, Djalila, Mir, Sevgi, Obrycki, Lukasz, Shroff, Rukshana, Stabouli, Stella, Szczepańska, Maria, Teixeira, Ana, Weber, Lutz T., Wenzel, Andrea, Wuhl, Elke, Zachwieja, Katarzyna, Dotsch, Jorg, Schaefer, Franz, Liebau, Max C., and Halawi A. A., Burgmaier K., Buescher A. K., DURSUN İ., Erger F., Galiano M., Gessner M., GÖKCE İ., Mekahli D., Mir S., et al.

Subjects
Internal Diseases, TMEM67, Internal Medicine Sciences, polycystic kidney disease, Klinik Tıp, PKD2, PKD1, Medizin, PKHD1, Dahili Tıp Bilimleri, CLINICAL MEDICINE, Sağlık Bilimleri, İç Hastalıkları, Clinical Medicine (MED), Tıp, Nefroloji, Nephrology, UROLOGY & NEPHROLOGY, Health Sciences, Medicine, Klinik Tıp (MED), ciliopathies, ÜROLOJİ VE NEFROLOJİ
Abstract

in press, CA extern

Published
2023

29. Coronary microvascular dysfunction as assessed by angiography-derived index of microvascular resistance co-localizes with and may explain the presence of ischemia in stress-cardiac magnetic resonance imaging in the absence of coronary artery disease

Author

Milzi, Andrea, Dettori, Rosalia, Lubberich, Richard Karl, Burgmaier, Kathrin, Marx, Nikolaus, Reith, Sebastian, and Burgmaier, Mathias

Subjects
Cardiology and Cardiovascular Medicine
Abstract

Frontiers in Cardiovascular Medicine 9, 1-5 (2022). doi:10.3389/fcvm.2022.1060764, Published by Frontiers Media, Lausanne

Published
2022

30. HEPATIC PHENOTYPE AND COMPLICATIONS IN PATIENTS WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD)

Author

Wuhl, Elke, Weber, Lutz T., Ranchin, Bruno, Prikhodina, Larisa, Obrycki, Lukasz, Miklaszewska, Monika, Mekahli, Djalila, Mastrangelo, Antonio, Massella, Laura, Marlais, Matko, Hooman, Nakysa, GÖKCE, İBRAHİM, Fila, Marc, DURSUN, İSMAİL, Buescher, Anja, Leidig, Benjamin, Kilian, Samuel, Broekaert, Ilse J., Burgmaier, Kathrin, Liebau, Max C., Doetsch, Joerg, and Schaefer, Franz

Published
2022

31. NON-STEROIDAL ANTI-INFLAMMATORY DRUGS TREATMENT AND RISK OF CHRONIC KIDNEY DISEASE IN PATIENTS WITH BARTTER SYNDROME AND PRIMARY NEPHROGENIC DIABETES INSIPIDUS

Author

Ariceta, Gema, Arbeiter, Klaus, Marlais, Matko, De Zan, Francesca, Becherucci, Francesca, Besouw, Martine, Burgmaier, Kathrin, Morin, Denis, Dolezel, Zdenek, DURSUN, İSMAİL, Espinosa, Laura, Gjerstad, Ann Christin, Gondra, Leire, Harmer, Matthew, Konrad, Martin, Lemoine, Sandrine, Madariaga, Leire, Marzuillo, Pierluigi, Meneghesso, Davide, Papizh, Svetlana, Printza, Nikoleta, Schlingmann, Karl, Trepiccione, Francesco, Tse, Yincent, Tsygin, Alexey, Wasilewska, Anna, Weitz, Marcus, Zieg, Jakub, Emma, Francesco, and Bockenhauer, Detlef

Published
2022

32. Humoral immune response and live-virus neutralization of the SARS-CoV-2 omicron (BA.1) variant after COVID-19 mRNA vaccination in children and young adults with chronic kidney disease

Author

Stich, Maximilian, primary, Di Cristanziano, Veronica, additional, Tönshoff, Burkhard, additional, Weber, Lutz Thorsten, additional, Dötsch, Jörg, additional, Rammer, Marian Theodor, additional, Rieger, Susanne, additional, Heger, Eva, additional, Garbade, Sven F., additional, Burgmaier, Kathrin, additional, Benning, Louise, additional, Speer, Claudius, additional, Habbig, Sandra, additional, and Haumann, Sophie, additional

Published
2022
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35. Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Author

Nalcacioglu, Hulya, Dunand, Oliver, Mastrangelo, Antonio, Murer, Luisa, Emma, Francesco, Ruzgiene, Dovile, Taranta-Janusz, Katarzyna, Balasz-Chmielewska, Irena, Miklaszewska, Monika, Stanczyk, Malgorzata, Sikora, Przemyslaw, Kowalewska, Claudia, Szczepanska, Maria, Teixeira, Ana, Rachisan, Andreea, Papachristou, Fotios, Paripović, Dušan, Prikhodina, Larisa, Jilani, Houweyda, Bayazit, Aysun Karabay, Soylu, Alper, Candan, Cengiz, Sever, Lale, Emre, Sevinc, Cicek, Neslihan, Akinci, Nurver, Mir, Sevgi, Poyrazoğlu, Hakan M., Tabel, Yilmaz, Mencarelli, Francesca, Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Büscher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Körber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Miloševski-Lomić, Gordana, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, Potemkina, Alexandra, Ranguelov, Nadejda, Collard, Laure, De Mul, Aurélie, Feldkoetter, Markus, Seeman, Tomas, Zieg, Jakub, Thumfart, Julia, Grundmann, Franziska, Buchholz, Björn, Pape, Lars, Gross, Oliver, Patzer, Ludwig, Schild, Raphael, Haffner, Dieter, Bernhardt, Wanja, Wuehl, Elke, Henn, Michael, Halbritter, Jan, Klaus, Günter, Lechner, Felix, Lange-Sperandio, Bärbel, Uetz, Barbara, Benz, Marcus, König, Jens, Staude, Hagen, Wurm, Donald, Bald, Martin, Soliman, Neveen A., Ariceta, Gema, Rodriguez, Juan David Gonzalez, de la Cerda Ojeda, Francisco, Harambat, Jerome, Ranchin, Bruno, Fila, Marc, Dossier, Claire, Boyer, Olivia, Marlais, Matko, UCL - (SLuc) Département de pédiatrie, Ruzgienė, Dovilė, Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Buescher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Koerber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Milosevski-Lomic, Gordana, Nalcacioglu, Hulya, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Doetsch, Joerg, Schaefer, Franz, and Liebau, Max Christoph

Subjects
Liver Cirrhosis, Male, glomerulus filtration rate, Medizin, cell surface receptor, preschool child, DISEASE, Cohort Studies, Chronic kidney disease, Polycystic kidney disease, Medicine, genetics, Longitudinal Studies, Child, pathophysiology, Ultrasonography, Kidney, Multidisciplinary, longitudinal study, organ size, chronic kidney failure, biological marker, cohort analysis, Prognosis, Autosomal Recessive Polycystic Kidney Disease, PKHD1 protein, human, Multidisciplinary Sciences, medicine.anatomical_structure, female, Quartile, Child, Preschool, Cohort, Disease Progression, Science & Technology - Other Topics, Glomerular Filtration Rate, medicine.medical_specialty, kidney, Adolescent, Science, Urology, Renal function, Kidney Volume, Receptors, Cell Surface, Article, Humans, ddc:610, human, Renal Insufficiency, Chronic, Polycystic Kidney, Autosomal Recessive, Paediatric kidney disease, Science & Technology, business.industry, echography, Infant, medicine.disease, mortality, kidney polycystic disease, disease exacerbation, physiology, business, metabolism, Biomarkers, Kidney disease
Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently needed as a base for clinical decision-making and future clinical trials. In this observational study we analyzed the longitudinal development of sonographic kidney measurements in a cohort of 456 ARPKD patients from the international registry study ARegPKD. We furthermore evaluated correlations of sonomorphometric findings and functional kidney disease with the aim to describe the natural disease course and to identify potential prognostic markers. Kidney pole-to-pole (PTP) length and estimated total kidney volume (eTKV) increase with growth throughout childhood and adolescence despite individual variability. Height-adjusted PTP length decreases over time, but such a trend cannot be seen for height-adjusted eTKV (haeTKV) where we even observed a slight mean linear increase of 4.5 ml/m per year during childhood and adolescence for the overall cohort. Patients with two null PKHD1 variants had larger first documented haeTKV values than children with missense variants (median (IQR) haeTKV 793 (450–1098) ml/m in Null/null, 403 (260–538) ml/m in Null/mis, 230 (169–357) ml/m in Mis/mis). In the overall cohort, estimated glomerular filtration rate decreases with increasing haeTKV (median (IQR) haeTKV 210 (150–267) ml/m in CKD stage 1, 472 (266–880) ml/m in stage 5 without kidney replacement therapy). Strikingly, there is a clear correlation between haeTKV in the first eighteen months of life and kidney survival in childhood and adolescence with ten-year kidney survival rates ranging from 20% in patients of the highest to 94% in the lowest quartile. Early childhood haeTKV may become an easily obtainable prognostic marker of kidney disease in ARPKD, e.g. for the identification of patients for clinical studies. © 2021, The Author(s)., ESPN 2014.2; PKD Foundation, PKDF; Bundesministerium für Bildung und Forschung, BMBF: 01GM1515, 01GM1903; Universität zu Köln, UoC; Marga und Walter Boll-Stiftung; Universitätsklinikum Köln, We thank the German Society for Pediatric Nephrology (GPN), the ESCAPE Network, and the European Society for Paediatric Nephrology (ESPN; Working Groups CAKUT and Inherited Renal Diseases) for their support. ML was supported by grants of the GPN, ESPN (Grant ESPN 2014.2), and the German PKD foundation. KB and ML were supported by the Medical Faculty of the University of Cologne (Koeln Fortune program), and the Marga and Walter Boll-Foundation. FS and ML are supported by the German Federal Ministry of Research and Education (BMBF grant 01GM1515 and 01GM1903). This work was generated within the European Reference Network for Rare Kidney Disorders (ERKNet).

Published
2021

37. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

Author

MS Nefrologie, Regenerative Medicine and Stem Cells, Verploegen, Maartje F.A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A., Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, MS Nefrologie, Regenerative Medicine and Stem Cells, Verploegen, Maartje F.A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A., Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, and Nijenhuis, Tom

Published
2022

38. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome:an international cross-sectional study

Author

Verploegen, Maartje F.A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A., Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, Verploegen, Maartje F.A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A., Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, and Nijenhuis, Tom

Abstract

Background:Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. Methods:Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Paediatric Nephrology (ESPN). Results:A total of 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I and II had the highest median PTH level (7.5 pmol/L) and 56% had hyperparathyroidism (PTH >7.0 pmol/L). Serum calcium was slightly lower in Bartter syndrome type I and II patients with hyperparathyroidism (2.42 versus 2.49 mmol/L; P = .038) compared to those with normal PTH levels and correlated inversely with PTH (rs −0.253; P = .009). Serum phosphate and urinary phosphate excretion did not correlate with PTH. Overall, 22% of patients had low serum phosphate levels (phosphate—standard deviation score < −2), with the highest prevalence in patients with Bartter syndrome type III (32%). Serum phosphate correlated with tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) (rs 0.699; P < .001), suggesting renal phosphate wasting. Conclusions:Hyperparathyroidism is frequent in patients with Bartter syndrome type I and II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting.

Published
2022

39. Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Author

UCL - (SLuc) Département de pédiatrie, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, UCL - (SLuc) Département de pédiatrie, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1-6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2-6.2) years. Data on variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype.

Published
2022

40. Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, Liebau, Max Christoph, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de pédiatrie générale, Ajiri, Ramona, Burgmaier, Kathrin, Akinci, Nurver, Broekaert, Ilse, Büscher, Anja, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Fila, Marc, Gessner, Michaela, Gokce, Ibrahim, Massella, Laura, Mastrangelo, Antonio, Miklaszewska, Monika, Prikhodina, Larisa, Ranchin, Bruno, Ranguelov, Nadejda, Rus, Rina, Sever, Lale, Thumfart, Julia, Weber, Lutz Thorsten, Wühl, Elke, Yilmaz, Alev, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max Christoph

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival. The underlying causes for this clinical variability are incompletely understood. We present the longitudinal clinical courses of 35 sibling pairs included in the ARPKD registry study ARegPKD, encompassing data on primary manifestation, prenatal and perinatal findings, genetic testing, and family history, including kidney function, liver involvement, and radiological findings. We identified 70 siblings from 35 families with a median age of 0.7 (interquartile range 0.1-6.0) years at initial diagnosis and a median follow-up time of 3.5 (0.2-6.2) years. Data on variants were available for 37 patients from 21 families. There were 8 patients from 7 families who required kidney replacement therapy (KRT) during follow-up. For 44 patients from 26 families, antihypertensive therapy was documented. Furthermore, 37 patients from 24 families had signs of portal hypertension with 9 patients from 6 families having substantial hepatic complications. Interestingly, pronounced variability in the clinical course of functional kidney disease was documented in only 3 sibling pairs. In 17 of 20 families of our cohort of neonatal survivors, siblings had only minor differences of kidney function at a comparable age. In patients surviving the neonatal period, our longitudinal follow-up of 70 ARPKD siblings from 35 families revealed comparable clinical courses of kidney and liver diseases in most families. The data suggest a strong impact of the underlying genotype.

Published
2022

41. Quantitative Flow Ratio Is Related to Anatomic Left Main Stem Lesion Parameters as Assessed by Intravascular Imaging

Author

Milzi, Andrea, Dettori, Rosalia, Lubberich, Richard Karl, Burgmaier, Kathrin, Marx, Nikolaus, Reith, Sebastian, Burgmaier, Mathias, Milzi, Andrea, Dettori, Rosalia, Lubberich, Richard Karl, Burgmaier, Kathrin, Marx, Nikolaus, Reith, Sebastian, and Burgmaier, Mathias

Abstract

Introduction: Previously, an association between anatomic left main stem (LMS) lesion parameters, as described by intravascular ultrasound (IVUS) and fractional flow reserve (FFR), was shown. Quantitative flow ratio (QFR) is a novel, promising technique which can assess functional stenosis relevance based only on angiography. However, as little is known about the relationship between anatomic LMS parameters and QFR, it was thus investigated in this study. Methods: In 53 patients with LMS disease, we tested the association between anatomic assessment using OCT (n = 28) or IVUS (n = 25) on the one hand and functional assessment as determined by QFR on the other hand. LMS-QFR was measured using a dedicated approach, averaging QFR over left anterior descending (LAD) and circumflex (LCX) and manually limiting segment of interest to LMS. Results: The minimal luminal area of the LMS (LMS-MLA) as measured by intravascular imaging showed a consistent correlation with QFR (R = 0.61, p < 0.001). QFR could predict a LMS-MLA < 6 mm(2) with very good diagnostic accuracy (AUC 0.919) and a LMS-MLA < 4.5 mm(2) with good accuracy (AUC 0.798). Similar results were obtained for other stenosis parameters. Conclusions: QFR might be a valuable tool to assess LMS disease. Further studies focusing on patient outcomes are needed to further validate the effectiveness of this approach.

Published
2022

42. Autosomal recessive polycystic kidney disease (ARPKD)-lessons learned from the international ARPKD registry study ARegPKD

Author

Burgmaier, Kathrin, Liebau, Max Christoph, Burgmaier, Kathrin, and Liebau, Max Christoph

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is rare but is one of the most important causes of kidney failure in childhood and adolescence. ARPKD is characterized by obligatory hepatorenal involvement and pronounced phenotypic variability. In most cases, it is caused by variants in the PKHD1 gene encoding the ciliary protein fibrocystin. The treatment of ARPKD is purely symptomatic. Targeted therapy has not yet been established. The prediction of clinical courses remains difficult in ARPKD. As ARPKD occurs significantly less frequently than autosomal dominant polycystic kidney disease (ADPKD), clinical or radiological risk markers for kidney disease progression could not be established for ARPKD in a similar manner. Genotype-phenotype correlations cannot fully explain the differences in the clinical courses. Clinical research in the field of ARPKD faces a number of challenges, such as rarity of the disease, complex disease courses, late, atypical or liver-predominant manifestations as well as incomplete understanding of the molecular pathogenesis. An exact longitudinal phenotypic characterization of large numbers of patients in international collaborations is helpful for the establishment of clinical, radiological and laboratory risk markers that are the basis for evaluation of first treatment options. In this setting, the European registry study ARegPKD was established. This article presents the evolution of the ARegPKD and extracts of lessons learned.

Published
2022

43. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

Author

Verploegen, Maartje F. A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Barany, Peter, Baron, Stephanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bokenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calo, Lorenzo A., Decramer, Stephane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perello, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yuksel, Selcuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom, Verploegen, Maartje F. A., Vargas-Poussou, Rosa, Walsh, Stephen B., Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Barany, Peter, Baron, Stephanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bokenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calo, Lorenzo A., Decramer, Stephane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J., Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A., Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J., Osman, Abdaldafae, Papizh, Svetlana, Perello, Manel, Rookmaaker, Maarten B., Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R., Weber, Lutz, Yildirim, Zeynep Yuruk, Yuksel, Selcuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, and Nijenhuis, Tom

Abstract

Background Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. In this cross-sectional study, we assessed PTH and phosphate homeostasis in a large cohort of patients with salt-losing tubulopathies. Methods Clinical and laboratory data of 589 patients with Bartter and Gitelman syndrome were provided by members of the European Rare Kidney Diseases Reference Network (ERKNet) and the European Society for Paediatric Nephrology (ESPN). Results A total of 285 patients with Bartter syndrome and 304 patients with Gitelman syndrome were included for analysis. Patients with Bartter syndrome type I and II had the highest median PTH level (7.5 pmol/L) and 56% had hyperparathyroidism (PTH >7.0 pmol/L). Serum calcium was slightly lower in Bartter syndrome type I and II patients with hyperparathyroidism (2.42 versus 2.49 mmol/L; P = .038) compared to those with normal PTH levels and correlated inversely with PTH (r(s) -0.253; P = .009). Serum phosphate and urinary phosphate excretion did not correlate with PTH. Overall, 22% of patients had low serum phosphate levels (phosphate-standard deviation score < -2), with the highest prevalence in patients with Bartter syndrome type III (32%). Serum phosphate correlated with tubular maximum reabsorption of phosphate/glomerular filtration rate (TmP/GFR) (r(s) 0.699; P < .001), suggesting renal phosphate wasting. Conclusions Hyperparathyroidism is frequent in patients with Bartter syndrome type I and II. Low serum phosphate is observed in a significant number of patients with Bartter and Gitelman syndrome and appears associated with renal phosphate wasting.

Published
2022

44. Study Conference of the Society for Pediatric Nephrology - Basis Innovative Research (2022)

Author

Pape, Lars, Baghai, Maral, Benz, Marcus, Burgmaier, Kathrin, Ehren, Rasmus, Haffner, Dieter, Hoecker, Britta, Hohenfellner, Katharina, Koenig, Jens, Konard, Martin, Kreuzer, Martin, Krupka, Kai, Liebau, Max, Oh, Jun, Pruefe, Jenny, Schnabel, Dirk, Toenshoff, Burkhard, Zivicnjak, Miroslav, Weber, Lutz T., Pape, Lars, Baghai, Maral, Benz, Marcus, Burgmaier, Kathrin, Ehren, Rasmus, Haffner, Dieter, Hoecker, Britta, Hohenfellner, Katharina, Koenig, Jens, Konard, Martin, Kreuzer, Martin, Krupka, Kai, Liebau, Max, Oh, Jun, Pruefe, Jenny, Schnabel, Dirk, Toenshoff, Burkhard, Zivicnjak, Miroslav, and Weber, Lutz T.

Published
2022

45. Study conference of the German Society for Pediatric Nephrology-Fundament for innovative research

Author

Pape, Lars, Baghai, Maral, Benz, Marcus, Burgmaier, Kathrin, Ehren, Rasmus, Haffner, Dieter, Hoecker, Britta, Hohenfellner, Katharina, Koenig, Jens, Konard, Martin, Kreuzer, Martin, Krupka, Kai, Liebau, Max, Oh, Jun, Pruefe, Jenny, Schnabel, Dirk, Toenshoff, Burkhard, Zivicnjak, Miroslav, Weber, Lutz T., Pape, Lars, Baghai, Maral, Benz, Marcus, Burgmaier, Kathrin, Ehren, Rasmus, Haffner, Dieter, Hoecker, Britta, Hohenfellner, Katharina, Koenig, Jens, Konard, Martin, Kreuzer, Martin, Krupka, Kai, Liebau, Max, Oh, Jun, Pruefe, Jenny, Schnabel, Dirk, Toenshoff, Burkhard, Zivicnjak, Miroslav, and Weber, Lutz T.

Abstract

The study conference of the German Society for Pediatric Nephrology (GPN), which has been held for almost 50 years, is the most important instrument of cooperative research in German pediatric nephrology. It has made a significant contribution to improving clinical care and strengthens the cooperation between the pediatric nephrology centers. Many important publications document the success. Joint studies and registers will continue to form the core of clinical research in pediatric nephrology in the future, also with international participation. Due to increasing regulatory and financial hurdles, the acquisition of public third party funding will become even more important.

Published
2022

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

Author

Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B, Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurelia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A, Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stephane, Gil-Pena, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yuksel, Selcuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A, Koenig, Jens, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wuehl, Elke, Agbas, Ayse, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pinarbasi, Ayse Seda, Melek, Engin, Miglinas, Marius, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef, Peco-Antic, Amira, Kaur, Amrit, Paglialunga, Antonino, Servais, Aude, Lutovac, Branko, Hoorn, Ewout J, Shasha-Lavsky, Hadas, Harambat, Jerome, Godron-Dubrasquet, Astrid, Buder, Kathrin, Allard, Lise, Patzer, Ludwig, Shumikhina, Marina, Hansen, Matthias, Printza, Nikoleta, Kucuk, Nuran, Beringer, Ortraud, Bhimma, Rajendra, Cerkauskiene, Rimante, Klinikos, Santaros, Neuhaus, Thomas J, Stavileci, Valbona, Ulinski, Tim, Dincel, Nida Temizkan, Mohebbi, Nilufar, Çukurova Üniversitesi, Lopez-Garcia, Sergio Camilo, Emma, Francesco, Walsh, Stephen B, Fila, Marc, Hooman, Nakysa, Zaniew, Marcin, Bertholet-Thomas, Aurélia, Colussi, Giacomo, Burgmaier, Kathrin, Levtchenko, Elena, Sharma, Jyoti, Singhal, Jyoti, Soliman, Neveen A, Ariceta, Gema, Basu, Biswanath, Murer, Luisa, Tasic, Velibor, Tsygin, Alexey, Decramer, Stéphane, Gil-Peña, Helena, Koster-Kamphuis, Linda, La Scola, Claudio, Gellermann, Jutta, Konrad, Martin, Lilien, Marc, Francisco, Telma, Tramma, Despoina, Trnka, Peter, Yüksel, Selçuk, Caruso, Maria Rosa, Chromek, Milan, Ekinci, Zelal, Gambaro, Giovanni, Kari, Jameela A, König, Jen, Taroni, Francesca, Thumfart, Julia, Trepiccione, Francesco, Winding, Louise, Wühl, Elke, Ağbaş, Ayşe, Belkevich, Anna, Vargas-Poussou, Rosa, Blanchard, Anne, Conti, Giovanni, Boyer, Olivia, Dursun, Ismail, Pınarbaşı, Ayşe Seda, Melek, Engin, Miglinas, Mariu, Novo, Robert, Mallett, Andrew, Milosevic, Danko, Szczepanska, Maria, Wente, Sarah, Cheong, Hae Il, Sinha, Rajiv, Gucev, Zoran, Dufek, Stephanie, Iancu, Daniela, Kleta, Robert, Schaefer, Franz, Bockenhauer, Detlef, and Internal Medicine

Subjects
Male, glomerulus filtration rate, ATP6V1B1 protein, human, DNA Mutational Analysis, kidney calcification, distal renal tubular acidosis, Sensorineural, nephrocalcinosi, ATP6V1B1 gene, Renal tubular acidosis, 0302 clinical medicine, newborn, Chronic kidney disease, middle aged, Medicine, genetics, Young adult, Child, adult, cohort analysis, perception deafness, Sensorineural hearing loss, aged, Nephrocalcinosis, priority journal, Nephrology, Child, Preschool, Cohort, Acidosis, mutational analysis, Vacuolar Proton-Translocating ATPases, medicine.medical_specialty, Hearing Loss, Sensorineural, rare disease, Renal function, bicarbonate, complication, Article, 03 medical and health sciences, nephrocalcinosis, Humans, human, gross national product, Hearing Loss, Aged, Infant, economic aspect, Distal renal tubular acidosis, medicine.disease, major clinical study, proton transporting adenosine triphosphate synthase, Mutation, nephrolithiasis, estimated glomerular filtration rate, chronic kidney disease, SLC4A1 gene, 030232 urology & nephrology, Deafness, 030204 cardiovascular system & hematology, preschool child, sensorineural hearing loss, nephrolithiasi, Cohort Studies, distal renal tubular acidosi, Interquartile range, kidney tubule acidosis, gene mutation, kidney function, Acidosis, Renal Tubular, chronic kidney failure, Middle Aged, urine, female, genetic association study, medical care, body height, young adult, Female, Renal Tubular, Glomerular Filtration Rate, onset age, Adult, Adolescent, prevalence, Nephrolithiasis, Young Adult, Rare Diseases, primary distal renal tubular acidosis, blood, Internal medicine, follow up, gene, Preschool, outcome assessment, Genetic Association Studies, Transplantation, calcium, business.industry, Infant, Newborn, hearing impairment, Newborn, Bicarbonates, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Calcium, metabolic regulation, business, Kidney disease
Abstract

PubMedID: 30773598 Background. Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-Termoutcome. Methods. We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form. Results. Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (61.16). There was an increased prevalence of chronic kidney disease (CKD) Stage -2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate. Conclusion. Long-Term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients. © The Author(s) 2018. Erciyes Üniversitesi Iran University of Medical Sciences Università degli Studi di Padova Chung Hua University American Ornithologists' Union University of Queensland 7Centre University College London Aristotle University of Thessaloniki Lunds Universitet Cairo University National Rosacea Society Heart of England NHS Foundation Trust Centre hospitalier universitaire Sainte-Justine Erasmus Universiteit Rotterdam Aristotle University of Thessaloniki 1Department of Paediatric Nephrology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK, 2Centre for Nephrology, University College London, London, UK, 3Division of Nephrology, Bambino Gesù Children’s Hospital—IRCCS, Rome, Italy, 4Pediatric Nephrology—CHU Arnaud de Villeneuve, Montpellier University Hospital, Montpellier, France, 5Ali-Asghar Clinical Research Development Center, Iran University of Medical Sciences, Tehran, Iran, 6Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland, 7Centre de référence Maladies rénales rares, Bron, France, 8ASST Niguarda, Milan, Italy, 9Department of Pediatrics, University Hospital of Cologne, Cologne, Germany, 10University Hospital Leuven, Leuven, Belgium, 11King Edward Memorial Hospital, Pune, India, 12Department of Pediatrics, Center of Pediatric Nephrology & Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt, 13Hospital Universitario Vall d’Hebron, Barcelona, Spain, 14Division of Pediatric Nephrology, NRS Medical College, Kolkata, India, 15Pediatric Nephrology, Dialysis and Transplant Unit, Azienda Ospedaliera & University of Padova, Padova, Italy, 16University Children’s Hospital, Medical School, Skopje, Macedonia, 17National Medical and Research Centre for Children’s Health, Moscow, Russia, 18Centre Hospitalier Universitaire de Toulouse, Service de Nephrologie Pediatrique, Hopital des Enfants, Centre De Reference des Maladies Rénales Rares du Sud Ouest, Toulouse, France, 19Hospital Universitario Central de Asturias, Oviedo, Spain, 20Radboud University Medical Centre, Nijmegen, The Netherlands, 21Nephrology and Dialysis Unit, Department of Woman, Child and Urological Diseases, Azienda Ospedaliero—Universitaria Sant’Orsola-Malpighi, Bologna, Italy, 22Charité Universitätsmedizin Berlin, Berlin, Germany, 23University Children’s Hospital, Münster, Germany, 24Wilhelmina Children’s Hospital, University Medical Center, Utrecht, The Netherlands, 25Centro Hospitalar de Lisboa Central, Lisbon, Portugal, 26Fourth Pediatric Department, Aristotle University, Thessaloniki, Greece, 27Lady Cilento Children’s Hospital, Brisbane, Australia, 28School of Medicine, the University of Queensland, Brisbane, Australia, 29Department of Pediatric Nephrology, Pamukkale University School of Medicine, Denizli, Turkey, 30Nephrology Unit Azienda Ospedaliera, Papa Giovani XXIII, Bergamo, Italy, 31Karolinska Institutet, Lund University,Sweden,GroupFlorenceNightingaleHospitals,Ist32· anbul, Turkey,Fondazione Policlinico A. Gemelli, Universita` Cattolica del33 Sacro Cuore, Rome, Italy, 34Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia, 35Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca’ Granda—Ospedale Maggiore Policlinico, Milan, Italy, 36Department of Translational Medical Sciences, University of Campania “L. Vanvitelli”, Naples, Italy, 37Pediatric Department, Lillebaelt Hospital Kolding, Kolding, Denmark, 38Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital of Heidelberg, Heidelberg, Germany, 39Haseki Education and Research Hospital, Istanbul, Turkey, 40Belarusian State Medical University, Minsk, Belarus, 41Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France, 42Pediatric Nephrology Unit, AOU Policlinic G Martino, Messina, Italy, 43Necker Hospital, Paris, France, 44Faculty of Medicine, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey, 45Cukurova University, Adana, Turkey, 46Nephrology Centre, Santaros Klinikos, Vilnius University, Vilnius, Lithuania, 47University Hospital of Lille, France, 48Department of Renal Medicine, Royal Brisbane and Women’s Hospital, Brisbane, Australia, 49University Hospital Centre Zagreb, Zagreb, Croatia, 50Department of Pediatrics, SMDZ in Zabrze, SUM in Katowice, Poland, 51Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany, The European dRTA Consortium consists of the authors, as well as: Amira Peco-Antic(Department of Nephrology, University Children’s Hospital, Belgrade, Serbia), Amrit Kaur (Department of Paediatric Nephrology, Royal Manchester Children’s Hospital, Manchester, UK), Antonino Paglialunga (ASP de Ragusa, Modica, Italy), Aude Servais (Department of Nephrology, Centre Hospitalier Universitaire Necker, APHP, Paris, France), Branko Lutovac (Clinical Centre of Montenegro, Institute for Children’s Disease, Podgorica, Montenegro), Ewout J. Hoorn (Erasmus Medical Center, Rotterdam, The Netherlands), Hadas Shasha-Lavsky (Galilee Medical Center, Nahariya, Israel), Jerome Harambat (Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France), Astrid Godron-Dubrasquet (Pediatric Nephrology Unit, Bordeaux University Hospital, Bordeaux, France), Kathrin Buder (Pediatric Department, University Hospital, Carl Gustav Carus Dresden, Dresden, Germany), Lise Allard (Department of Pediatrics, Angers University Hospital, Angers, France), Ludwig Patzer (Children’s Hospital St Elisabeth and St Barbara, Halle, Germany), Marina Shumikhina (Filatov Children’s Clinical Hospital No. 13, Moscow, Russia), Matthias Hansen (KfH Centre of Paediatric Nephrology, Clementine Children’s Hospital, Frankfurt, Germany), Nikoleta Printza (First Pediatric Department, Aristotle University, Thessaloniki, Greece), Nuran Küc¸ük (Kartal Dr. Lütfi Kırdar Training and Research Hospital, İstanbul, Turkey), Ortraud Beringer (University Children’s Hospital, Ulm, Germany), Rajendra Bhimma (Inkosi Albert Luthuli, Central Hospital, Durban, South Africa), Rimante Cerkauskiene (Faculty of Medicine, Children’s Hospital, Vilnius University, Vilnius, Lithuania; Santaros Klinikos, Vilnius University Hospital, Vilnius, Lithuania), Thomas J. Neuhaus (Children’s Hospital of Lucerne, Cantonal Hospital of Lucerne, Lucerne, Switzerland), Valbona Stavileci (Pediatric Clinic, Prishtina, Kosovo), Tim Ulinski (Pediatric Nephrology Department, Armand Trousseau University Hospital, APHP, Paris, France), Nida Temizkan Dincel (Health Sciences University, Izmir Dr Behcet Uz Children’s Hospital, İzmir, Turkey) and Nilufar Mohebbi (Division of Nephrology, University Hospital Zurich, Zurich, Switzerland)

Published
2019

47. PI-9 HEPATIC PHENOTYPE AND COMPLICATIONS IN PATIENTS WITH AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD)

Author

Burgmaier, Kathrin, Broekaert, Ilse J., Kilian, Samuel, Leidig, Benjamin, Büscher, Anja, Dursun, Ismail, Fila, Marc, Gokce, Ibrahim, Hooman, Nakysa, Marlais, Matko, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Miklaszewska, Monika, Obrycki, Lukasz, Prikhodina, Larisa, Ranchin, Bruno, Weber, Lutz T., Wühl, Elke, Dötsch, Jörg, Schaefer, Franz, and Liebau, Max C.

Subjects
Medizin
Published
2022

48. PHENOTYPIC VARIABILITIES IN SIBLINGS WITH ARPKD

Author

Liebau, Max Christoph, Sever, Lale, Weber, Lutz Thorsten, Wuehl, Elke, Akinci, Nurver, Burgmaier, Kathrin, Ajiri, Ramona, Rus, Rina, Ranguelov, Nadejda, Ranchin, Bruno, Prikhodina, Larisa, Yilmaz, Alev, Doetsch, Joerg, Schaefer, Franz, Thumfahrt, Julia, Miklaszewska, Monika, Mastrangelo, Antonio, Massella, Laura, GÖKCE, İBRAHİM, Gessner, Michaela, Fila, Marc, Eid, Loai Akram, DÜZOVA, ALİ, DURSUN, İSMAİL, and Buscher, Anja

Published
2021

49. PHENOCOPIESOF CLINICALLY DIAGNOSED ARPKD REVEALED IN CHILDREN

Author

DURSUN, İSMAİL, Schaefer, Franz, Liebau, Max, Halawi, Abdul, GÖKCE, İBRAHİM, Kowalewska, Claudia, Mekahli, Djalila, Mir, Sevgi, Shroff, Rukshana, Stabouli, Stella, Szczepanska, Maria, Teixeira, Ana, Weber, Lutz, WUehl, Elke, Wygoda, Simone, Zachwieja, Katarzyna, Doetsch, Joerg, Burgmaier, Kathrin, Buescher, Anja, Gessner, Michaela, and Galiano, Matthias

Published
2021

50. EARLY CHILDHOOD HEIGHT-ADJUSTED TOTAL KIDNEY VOLUME AS A RISK MARKER OF KIDNEY SURVIVAL IN AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE (ARPKD)

Author

Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Buescher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Koerber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Milosevski-Lomic, Gordana, Hulya Nalcacioglu, Rus, Rina, Shroff, Rukshana, Stabouli, Stella, Weber, Lutz, Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Doetsch, Joerg, Schaefer, Franz, and Liebau, Max Christoph

Published
2021

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