Congenital Malformations & Ciliopathies

The work group for congenital malformations & ciliopathies focuses on structural renal disorders that frequently present in childhood. This includes diseases encompassing the spectra of “Congenital abnormalities of the kidney and the urinary tract (CAKUT)” and of “Ciliopathies”. A prominent group of disorders we work on are cystic kidney diseases of childhood. The CAKUT spectrum and the Ciliopathies are clinically, genetically and histologically highly heterogeneous, making treatment and prediction of severe and progressive disease courses challenging. Clear-cut risk factors have not been established for most of the disorders.

Our work group brings together experts from all over Europe, both from Pediatric as well as well as Adult Nephrology centers and includes patient representatives. We aim to lay the foundation for unified clinical treatment concepts and innovative research e.g. towards novel therapeutic strategies. Given the heterogeneity of diseases our work group will closely collaborate with work groups within ERKNet and other ERNs.

Meeting Minutes

WG Meeting on 28th April 2021 (please log in to your member account to view the minutes)

WorkGroup Members

Albertien vanEerde  Speaker Utrecht, Netherlands,
University Medical Centre  		» Ped. center
Max Liebau  Co-Chair Cologne, Germany,
University Hospital  		» Ped. center
Giovanni Montini  Co-Chair Milan, Italy,
IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
René Andersen  Aarhus, Denmark,
University Hospital  		» Ped. center
Mia Faerch  Aarhus, Denmark,
University Hospital  		» Ped. center
Arend Bokenkamp  Amsterdam, Netherlands,
Amsterdam, Academic Medical Center (AMC)  		» Ped. center
Antonia Bouts  Amsterdam, Netherlands,
Amsterdam, Academic Medical Center (AMC)  		» Ped. center
Elena Levtchenko  Amsterdam, Netherlands,
Amsterdam, Academic Medical Center (AMC)  		» Ped. center
Rik Westland  Amsterdam, Netherlands,
Amsterdam, Academic Medical Center (AMC)  		» Ped. center
Anna Bujons  Barcelona, Spain,
Hospital de la Santa Creu I Sant Pau and Fundacio Puigvert/IUNA  		» Adult center
Roser Torra  Barcelona, Spain,
Hospital de la Santa Creu I Sant Pau and Fundacio Puigvert/IUNA  		» Adult center
Gema Ariceta  Barcelona, Spain,
Hospital Universitari Vall d'Hebron  		» Ped. center
  Marino Asensio  Barcelona, Spain,
Hospital Universitari Vall d'Hebron  		» Ped. center
  Gloria Fraga  Barcelona, Spain,
Hospital Universitari Vall d'Hebron  		» Ped. center
  Romy Gander  Barcelona, Spain,
Hospital Universitari Vall d'Hebron  		» Ped. center
  Héctor Ríos  Barcelona, Spain,
Hospital Universitari Vall d'Hebron  		» Ped. center
  Gloria Royo  Barcelona, Spain,
Hospital Universitari Vall d'Hebron  		» Ped. center
Vincenza Carbone  Bari, Italy,
AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
Mario Giordano  Bari, Italy,
AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
  Marida Martino  Bari, Italy,
AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
Luisa Santangelo  Bari, Italy,
AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
Diletta Torres  Bari, Italy,
AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
  Kai-Uwe Eckardt  Berlin, Germany,
Charité - Universitätsmedizin Berlin  		» Adult center
Jan Halbritter  Berlin, Germany,
Charité - Universitätsmedizin Berlin  		» Adult center
  Dominik Müller  Berlin, Germany,
Charité - Universitätsmedizin Berlin  		» Ped. center
  Markus Schueler  Berlin, Germany,
Charité - Universitätsmedizin Berlin  		» Adult center
  Julia Thumfart  Berlin, Germany,
Charité - Universitätsmedizin Berlin  		» Ped. center
  Markus van der Giet  Berlin, Germany,
Charité - Universitätsmedizin Berlin  		» Adult center
Brigitte Llanas  Bordeaux, France,
University Hospital  		» Ped. center
  Karin Dahan  Brussels, Belgium,
Cliniques universitaires Saint-Luc - UCL  		» Adult center
Olivier Devuyst  Brussels, Belgium,
Cliniques universitaires Saint-Luc - UCL  		» Adult center
  Axel Feyaerts  Brussels, Belgium,
Cliniques universitaires Saint-Luc - UCL  		» Adult center
Nathalie Godefroid  Brussels, Belgium,
Cliniques universitaires Saint-Luc - UCL  		» Adult center
  István Máttyus  Budapest, Hungary,
Semmelweis University  		» Ped. center
George Reusz  Budapest, Hungary,
Semmelweis University  		» Ped. center
  Péter Sallay  Budapest, Hungary,
Semmelweis University  		» Ped. center
  Attila Szabó  Budapest, Hungary,
Semmelweis University  		» Ped. center
Kalman Tory  Budapest, Hungary,
Semmelweis University  		» Ped. center
  Sören Bäumner  Cologne, Germany,
University Hospital  		» Ped. center
Kathrin Burgmaier  Cologne, Germany,
University Hospital  		» Ped. center
  Volker Burst  Cologne, Germany,
University Hospital  		» Adult center
Sandra Habbig  Cologne, Germany,
University Hospital  		» Ped. center
  Stefan Kohl  Cologne, Germany,
University Hospital  		» Ped. center
  Roman-Ulrich Mueller  Cologne, Germany,
University Hospital  		» Adult center
Lutz Weber  Cologne, Germany,
University Hospital  		» Ped. center
Hanne Nørgaard  Copenhagen, Denmark,
Rigshospitalet University Hospital  		» Ped. center
Dorota Drozdz  Cracow, Poland,
University Children's Hospital of Cracow  		» Ped. center
  Agnieszka Jaskólska  Cracow, Poland,
University Children's Hospital of Cracow  		» Ped. center
  Joanna Kwinta-Rybicka  Cracow, Poland,
University Children's Hospital of Cracow  		» Ped. center
  Monika Miklaszewska  Cracow, Poland,
University Children's Hospital of Cracow  		» Ped. center
Anna Moczulska  Cracow, Poland,
University Children's Hospital of Cracow  		» Ped. center
  Elżbieta Szczęsny-Choruz  Cracow, Poland,
University Children's Hospital of Cracow  		» Ped. center
  Katarzyna Wilkosz  Cracow, Poland,
University Children's Hospital of Cracow  		» Ped. center
  Katarzyna Zachwieja  Cracow, Poland,
University Children's Hospital of Cracow  		» Ped. center
  Peter J Conlon  Dublin, Ireland,
Beaumont Hospital  		» Adult center
  Atif Awan  Dublin, Ireland,
Children`s Health Ireland (CHI) at Temple Street  		» Ped. center
  Björn Buchholz  Erlangen, Germany,
University Hospital  		» Adult center
  Karl Hilgers  Erlangen, Germany,
University Hospital  		» Adult center
  Michael Wiesener  Erlangen, Germany,
University Hospital  		» Adult center
Anja Büscher  Essen, Germany,
University Children`s Hospital  		» Ped. center
Rainer Büscher  Essen, Germany,
University Children`s Hospital  		» Ped. center
Lars Pape  Essen, Germany,
University Children`s Hospital  		» Ped. center
Francesca Becherucci  Florence, Italy,
Meyer Children’s Hospital IRCCS  		» Ped. center
  Lorenzo Masieri  Florence, Italy,
Meyer Children’s Hospital IRCCS  		» Ped. center
Paola Romagnani  Florence, Italy,
Meyer Children’s Hospital IRCCS  		» Ped. center
Augusto Vaglio  Florence, Italy,
Meyer Children’s Hospital IRCCS  		» Ped. center
  Piotr Czarniak  Gdansk, Poland,
University Clinical Centre Gdansk  		» Ped. center
Beata Lipska-Zietkiewicz  Gdansk, Poland,
University Clinical Centre Gdansk  		» Ped. center
Michal Maternik  Gdansk, Poland,
University Clinical Centre Gdansk  		» Ped. center
Aleksandra Zurowska  Gdansk, Poland,
University Clinical Centre Gdansk  		» Ped. center
  Monica Bodria  Genoa, Italy,
Istituto Giannina Gaslini  		» Ped. center
Gianluca Caridi  Genoa, Italy,
Istituto Giannina Gaslini  		» Ped. center
Gian Marco Ghiggeri  Genoa, Italy,
Istituto Giannina Gaslini  		» Ped. center
Giorgio Piaggio  Genoa, Italy,
Istituto Giannina Gaslini  		» Ped. center
Joke Dehoorne  Ghent, Belgium,
UZ Ghent  		» Ped. center
Lien Dossche  Ghent, Belgium,
UZ Ghent  		» Ped. center
  Ann Raes  Ghent, Belgium,
UZ Ghent  		» Ped. center
  Evelien Snauwaert  Ghent, Belgium,
UZ Ghent  		» Ped. center
Johan Vande Walle  Ghent, Belgium,
UZ Ghent  		» Ped. center
  Jill Vanmassenhove  Ghent, Belgium,
UZ Ghent  		» Adult center
Charlotte Bootsma-Robroeks  Groningen, Netherlands,
University Medical Center  		» Ped. center
Margriet de Jong  Groningen, Netherlands,
University Medical Center  		» Adult center
Ron Gansevoort  Groningen, Netherlands,
University Medical Center  		» Adult center
Esther Meijer  Groningen, Netherlands,
University Medical Center  		» Adult center
Josine Quadackers  Groningen, Netherlands,
University Medical Center  		» Ped. center
Dieter Haffner  Hannover, Germany,
Hannover Medical School  		» Ped. center
Ruthild Weber  Hannover, Germany,
Hannover Medical School  		» Ped. center
Vera Cornelius  Heidelberg, Germany,
University Hospital  		» Ped. center
Stefanie Haeberle  Heidelberg, Germany,
University Hospital  		» Ped. center
Clémence Le Cornec  Heidelberg, Germany,
University Hospital  		» Ped. center
Franz Schaefer  Heidelberg, Germany,
University Hospital  		» Ped. center
Burkhard Toenshoff  Heidelberg, Germany,
University Hospital  		» Ped. center
Tanja Wlodkowski  Heidelberg, Germany,
University Hospital  		» Ped. center
Elke Wühl  Heidelberg, Germany,
University Hospital  		» Ped. center
  Elisa Ylinen  Helsinki, Finland,
Children´s Hospital, Helsinki University Hospital  		» Ped. center
Johan de Fijter  Leiden, Netherlands,
Leiden University Medical Center  		» Adult center
Jonathan de Fallois  Leipzig, Germany,
University Hospital  		» Adult center
Bert Bammens  Leuven, Belgium,
University Hospitals Leuven  		» Adult center
  Guy Bogaerts  Leuven, Belgium,
University Hospitals Leuven  		» Ped. center
Kathleen Claes  Leuven, Belgium,
University Hospitals Leuven  		» Adult center
Noel Knops  Leuven, Belgium,
University Hospitals Leuven  		» Ped. center
Djalila Mekahli  Leuven, Belgium,
University Hospitals Leuven  		» Ped. center
  Nina Battelino  Ljubljana, Slovenia,
University Medical Centre  		» Ped. center
  Kopač Matjaž  Ljubljana, Slovenia,
University Medical Centre  		» Ped. center
  Anamarija Meglic  Ljubljana, Slovenia,
University Medical Centre  		» Ped. center
  Gregor Novljan  Ljubljana, Slovenia,
University Medical Centre  		» Ped. center
  Rina Rus  Ljubljana, Slovenia,
University Medical Centre  		» Ped. center
Agnieszka Gach  Lodz, Poland,
Instytut  		» Ped. center
  Monika Pawlak-Bratkowska  Lodz, Poland,
Instytut  		» Ped. center
  Małgorzata Stańczyk  Lodz, Poland,
Instytut  		» Ped. center
Marcin Tkaczyk  Lodz, Poland,
Instytut  		» Ped. center
Mar Espino Hernandez  Madrid, Spain,
Hospital Universitario 12 de Octubre  		» Ped. center
  Andrés Gómez  Madrid, Spain,
Hospital Universitario 12 de Octubre  		» Ped. center
  Julia Martin  Madrid, Spain,
Hospital Universitario 12 de Octubre  		» Ped. center
Alfredo Rodriguez  Madrid, Spain,
Hospital Universitario 12 de Octubre  		» Adult center
Angel Sánchez  Madrid, Spain,
Hospital Universitario 12 de Octubre  		» Adult center
  Gianluigi Ardissino  Milan, Italy,
IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
Valentina Capone  Milan, Italy,
IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
Sara Testa  Milan, Italy,
IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
Denis Morin  Montpellier, France,
University Hospital  		» Ped. center
Jens Koenig  Münster, Germany,
University Hospital  		» Ped. center
  Petra Pennekamp  Münster, Germany,
University Hospital  		» Ped. center
Giovambattista Capasso  Naples, Italy,
UOC Nephrology and Dialysis - Università della Campania  		» Adult center
Stefano Guarino  Naples, Italy,
UOC Nephrology and Dialysis - Università della Campania  		» Ped. center
Pierluigi Marzuillo  Naples, Italy,
UOC Nephrology and Dialysis - Università della Campania  		» Ped. center
Guiseppe Orefice  Naples, Italy,
UOC Nephrology and Dialysis - Università della Campania  		» Adult center
Mariadelina Simeoni  Naples, Italy,
UOC Nephrology and Dialysis - Università della Campania  		» Adult center
Miriam Zacchia  Naples, Italy,
UOC Nephrology and Dialysis - Università della Campania  		» Adult center
  Ernie Bongers  Nijmegen, Netherlands,
Radboud UMC  		» Adult center
Charlotte Bootsma  Nijmegen, Netherlands,
Radboud UMC  		» Ped. center
Tom Nijenhuis  Nijmegen, Netherlands,
Radboud UMC  		» Adult center
Michiel Schreuder  Nijmegen, Netherlands,
Radboud UMC  		» Ped. center
  Marijn Stokman  Nijmegen, Netherlands,
Radboud UMC  		» Ped. center
Nicole vandeKar  Nijmegen, Netherlands,
Radboud UMC  		» Ped. center
  Davide Meneghesso  Padua, Italy,
Azienda Ospedaliera di Padova  		» Ped. center
Susanna Negrisolo  Padua, Italy,
Azienda Ospedaliera di Padova  		» Ped. center
  Pascal Houillier  Paris, France,
Hopital Europeen Georges Pompidou  		» Adult center
  Elodie Cheyssac  Paris, France,
Hospital Robert Debre  		» Ped. center
Olivia Gillion-Boyer  Paris, France,
Necker-Enfants Malades University Hospital  		» Ped. center
Laurence Heidet  Paris, France,
Necker-Enfants Malades University Hospital  		» Ped. center
Alberto Caldas Afonso  Porto, Portugal,
Centro Hospitalar Universitário do Porto  		» Ped. center
Teresa Costa  Porto, Portugal,
Centro Hospitalar Universitário do Porto  		» Ped. center
  Paula Matos  Porto, Portugal,
Centro Hospitalar Universitário do Porto  		» Ped. center
Ana Teixeira  Porto, Portugal,
Centro Hospitalar Universitário do Porto  		» Ped. center
Pietro Manuel Ferraro  Rome, Italy,
Gemelli Hospital  		» Adult center
Marco Castagnetti  Rome, Italy,
Rome, Bambino Gesù Children's Hospital  		» Ped. center
Laura Massella  Rome, Italy,
Rome, Bambino Gesù Children's Hospital  		» Ped. center
  Jaap Mulder  Rotterdam, Netherlands,
Erasmus MC: University Medical Center Rotterdam  		» Ped. center
Peter Barany  Stockholm, Sweden,
Karolinska University Hospital  		» Adult center
Maria Herthelius  Stockholm, Sweden,
Karolinska University Hospital  		» Ped. center
Stephane Decramer  Toulouse, France,
Toulouse, University Hospital  		» Ped. center
  Joost Schanstra  Toulouse, France,
Toulouse, University Hospital  		» Ped. center
Stephanie Tellier  Toulouse, France,
Toulouse, University Hospital  		» Ped. center
Luigi Biancone  Turin, Italy,
AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Elena Boaglio  Turin, Italy,
AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Manuel Burdese  Turin, Italy,
AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Caterina Dolla  Turin, Italy,
AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Roberta Giraudi  Turin, Italy,
AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Roberta Camilla  Turin, Italy,
AOU CSS di Torino - Regina Margherita Hospital  		» Ped. center
Bruno Gianoglio  Turin, Italy,
AOU CSS di Torino - Regina Margherita Hospital  		» Ped. center
Francesca Mattozzi  Turin, Italy,
AOU CSS di Torino - Regina Margherita Hospital  		» Ped. center
Licia Peruzzi  Turin, Italy,
AOU CSS di Torino - Regina Margherita Hospital  		» Ped. center
Simone Baldovino  Turin, Italy,
University of Torino-Ospedale HUB Torino Nord  		» Adult center
Dario Roccatello  Turin, Italy,
University of Torino-Ospedale HUB Torino Nord  		» Adult center
  Tom de Jong  Utrecht, Netherlands,
University Medical Centre  		» Ped. center
  Aart Klijn  Utrecht, Netherlands,
University Medical Centre  		» Ped. center
  Marc Lilien  Utrecht, Netherlands,
University Medical Centre  		» Ped. center
Gilvydas Verkauskas  Vilnius, Lithuania,
Vilnius University Hospital Santaros Klinikos  		» Ped. center
  Daniel Gale  External Royal Free London 
  John Sayer  External Institute of Genetic Medicine, Newcastle University 
Kjell Tullus  External London, Great Ormond Street Hospital 
Adrian Woolf  External Manchester, Manchester University Foundation Trust 
Marjolein Bos  Patient representative https://cystinose.nl (Cystinosis) 
Susana Carvajal Arjona  Patient representative http://hipofam.org/ (Hypomagnesemia) 
  Renée de Wildt  Patient representative Nierpatienten Vereniging Nederland https://www.nvn.nl/ 
Flavia Galletti  Patient representative https://pkdinternational.org/ (PKD) 
Tess Harris  Patient representative https://pkdcharity.org.uk (PKD) 
Uwe Korst  Patient representative Bundesverband Niere e.V. (Bundesverband-niere.de)