Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

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

OBJECTIVE: To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6cfde1e35902f2f1dd74b9ce09f4a8
https://hdl.handle.net/20.500.12605/19675

Loop Disorders: Insights Derived from Defined Genotypes

Autor: Hannsjörg W. Seyberth, Nikola Jeck

Publikováno v: Nephron Physiology. 118:p7-p14

Great progress has been made in the last 15 years in the characterization and the pathophysiological understanding of renal salt and water wasting associated with inherited disorders of the thick ascending limb (TAL) of Henle’s loop, the loop disor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bedc803aa988afd3d2938b98a544838
https://doi.org/10.1159/000320882

Pharmakologische Renoprotektion bei Kindern mit chronischer Niereninsuffizienz*

Autor: Ali Anarat, Sara Testa, Giovanni Montini, R. Coppo, B. Enke, Uwe Querfeld, A. Sirin, Salim Caliskan, C. Greiner, Otto Mehls, Ryszard Grenda, Gisela Offner, Elke Wühl, A. M. Wingen, Sevgi Mir, J. Fydryk, Ulla Berg, Stefano Picca, Sevinç Emre, Guenter Klaus, Patrick Niaudet, Nikola Jeck, Thomas J. Neuhaus, C. Matteucci, M. Abuauba, Klaus Arbeiter, Augustina Jankauskiene, Amira Peco-Antic, Ana Teixeira, Peter Sallay, Fatih Ozaltin, Klaus-Eugen Bonzel, C. Hadtstein, Dorota Drozdz, D. E. Müller-Wiefel, K. Hohbach-Hohenfeliner, G. Celsi, Aysin Bakkaloglu, K. Zepf, Alberto Caldas-Afonso, A. Appiani, Michel Fischbach, Marianne Wigger, Tomasz Urasiński, Jutta Gellermann, Simone Wygoda, A. Canepa, Joelle Terzic, Aleksandra Zurowska, Jiří Dušek, Francesco Perfumo, I. Balasz, Franz Schaefer, Gianluigi Ardissino, Mieczysław Litwin, E. Serdaroglu, Marina Charbit, H. Eichstädt, I. Bilge, Licia Peruzzi

Publikováno v: Nieren- und Hochdruckkrankheiten. 36:6-10

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::506c1eb98f3f44ab07149b64d7216580
https://doi.org/10.5414/nhp36006

A Spanish Founder Mutation in the Chloride Channel Gene, CLCNKB, as a Cause of Atypical Bartter Syndrome in Adult Age

Autor: Juan José Gorgojo, Nikola Jeck, Martin Konrad, Sergio Donnay

Publikováno v: Hormone Research in Paediatrics. 65:62-68

Background: Mutations in the chloride channel gene, CLCNKB, usually cause classic Bartter syndrome (cBS) or a mixed Bartter-Gitelman phenotype in the first years of life. Methods: We report an adult woman with atypical BS caused by a homozygous misse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1c80dfef528ea191d476cbf354cf8d4b
https://doi.org/10.1159/000090601

Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome

Autor: Hanna Shalev, Daniel Landau, Dalia Galron, Ohad S. Birk, Gal Finer, Nikola Jeck, Levana Sinai-Treiman

Publikováno v: The Journal of Pediatrics. 142:318-323

Identification of neonatal hyperkalemia as a complication of Bartter syndrome (BS), a disorder usually characterized by hypokalemic metabolic alkalosis. Study design Case-series description of a group of 12 infants with mutations in the renal potassi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e66c9b2d643c0db286c32e6a2ccfa4cd
https://doi.org/10.1067/mpd.2003.100