for Physicians
for Patients

Workgroup 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.

Responsible Project Manager

Vanessa Merck | vanessa.merck@med.uni-heidelberg.de

Working Group Highlights (May 2025)

We are pleased to share with you an overview of the working group highlights from the last CAKUT and ciliopathies WG meeting held during the 9th Annual Meeting in May 2025 in Leuven

  • Participation in the meetings of the CAKUT & ciliopathies working group (WG)
  • Participation in the KPI meeting
  • Participation in the development of the ARPKD guidelines as part of the ePAG collaboration
  • Participation in a study on the use of ChatGPT to support and educate families affected by rare diseases - ePAG collaboration
  • Ongoing research exchange projects were acknowledged, with results expected from several contributors.
  • New phenotype modules related to prenatal kidney failure and LUTO will be added to ERKReg.
  • Suggestion to assess genetic testing practices across CAKUT phenotypes, particularly in dysplasia/hypoplasia/agenesis cases.
  • Updated 2025 data analysis from ERKReg was presented, including long-term kidney survival outcomes for major CAKUT subgroups such as ARPKD, renal dysplasia/hypoplasia/agenesis, and HNF1B-related disease.
  • The CAKUT KPI Task Force introduced two new KPIs:
  • Daytime urinary continence at age 7 (as a meaningful patient-reported outcome)
  • RAS blockade in CAKUT patients with CKD stage 2+ and albuminuria >300 mg/g
  • A Delphi survey will be conducted to formalize approval of these new KPIs
  • Multiple guideline projects are underway, including:
    • High-grade VUR: Survey extension and preparation of a consensus publication focusing on management in rare diseases.
    • Megaureter and Spinal Dysraphism: Ongoing consensus efforts with expected progress by 2025.
    • HNF1B nephropathy: Identified as an unmet need; development of a guideline is planned.
    • CAKUT in adulthood: Consensus paper and educational materials are being developed to improve awareness among adult nephrologists and support better referral pathways.
  • New planned webinars on:
    • Antenatal CAKUT
    • Bladder dysfunction
    • Posterior urethral valves
    • ARPKD (updated guidelines)
    • Nephronophthisis
    • Bardet-Biedl syndrome
    • Overview of rare kidney diseases
  • Ongoing eLearning case development includes topics such as hydronephrosis, PUV, HDR syndrome, and renal tubular dysgenesis.
  • Short expert video tutorials (10–12 minutes) in planning, focusing on CAKUT clinical features and management. These will be hosted on the Neocyst and ERKNet platforms.
  • Patient involvement remains a central theme, with structured input from ePAG representatives on both research and education projects.

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,
Utrecht University Medical Centre  		» Ped. center
  Stefan Kohl  Co-Chair Cologne, Germany,
Cologne University Hospital  		» Ped. center
Ana Teixeira  Co-Chair Porto, Portugal,
Porto Centro Hospitalar Universitário do Porto  		» Ped. center
René Andersen  Aarhus, Denmark,
Aarhus University Hospital  		» Ped. center
Mia Faerch  Aarhus, Denmark,
Aarhus University Hospital  		» Ped. center
Arend Bokenkamp  Amsterdam, Netherlands,
Amsterdam Academic University Medical Center (AUMC)  		» Ped. center
Antonia Bouts  Amsterdam, Netherlands,
Amsterdam Academic University Medical Center (AUMC)  		» Ped. center
Elena Levtchenko  Amsterdam, Netherlands,
Amsterdam Academic University Medical Center (AUMC)  		» Ped. center
Rik Westland  Amsterdam, Netherlands,
Amsterdam Academic University Medical Center (AUMC)  		» Ped. center
Anna Bujons  Barcelona, Spain,
Barcelona Hospital de la Santa Creu I Sant Pau and Fundacio Puigvert/IUNA  		» Adult center
Roser Torra  Barcelona, Spain,
Barcelona Hospital de la Santa Creu I Sant Pau and Fundacio Puigvert/IUNA  		» Adult center
  Gema Ariceta  Barcelona, Spain,
Barcelona Hospital Universitari Vall d'Hebron  		» Ped. center
Gema Ariceta  Barcelona, Spain,
Barcelona Hospital Universitari Vall d'Hebron  		» Ped. center
  Marino Asensio  Barcelona, Spain,
Barcelona Hospital Universitari Vall d'Hebron  		» Ped. center
  Gloria-Maria Fraga  Barcelona, Spain,
Barcelona Hospital Universitari Vall d'Hebron  		» Ped. center
  Romy Gander  Barcelona, Spain,
Barcelona Hospital Universitari Vall d'Hebron  		» Ped. center
  Hector Ríos Duro  Barcelona, Spain,
Barcelona Hospital Universitari Vall d'Hebron  		» Ped. center
  Hector Rios Duro  Barcelona, Spain,
Barcelona Hospital Universitari Vall d'Hebron  		» Ped. center
  Gloria Royo  Barcelona, Spain,
Barcelona Hospital Universitari Vall d'Hebron  		» Ped. center
Vincenza Carbone  Bari, Italy,
Bari AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
Mario Giordano  Bari, Italy,
Bari AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
  Marida Martino  Bari, Italy,
Bari AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
Luisa Santangelo  Bari, Italy,
Bari AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
Diletta Torres  Bari, Italy,
Bari AOU Consorziale policlinico di Bari-Ospedale Pediatrico Giovanni XXIII  		» Ped. center
  Kai-Uwe Eckardt  Berlin, Germany,
Berlin Charité - Universitätsmedizin Berlin  		» Adult center
Jan Halbritter  Berlin, Germany,
Berlin Charité - Universitätsmedizin Berlin  		» Adult center
  Dominik Müller  Berlin, Germany,
Berlin Charité - Universitätsmedizin Berlin  		» Ped. center
  Markus Schueler  Berlin, Germany,
Berlin Charité - Universitätsmedizin Berlin  		» Adult center
  Julia Thumfart  Berlin, Germany,
Berlin Charité - Universitätsmedizin Berlin  		» Ped. center
  Markus van der Giet  Berlin, Germany,
Berlin Charité - Universitätsmedizin Berlin  		» Adult center
Irene Capelli  Bologna, Italy,
Bologna AOU Policlinico S. Orsola Bologna  		» Adult center
  Gaetano La Manna  Bologna, Italy,
Bologna AOU Policlinico S. Orsola Bologna  		» Adult center
Brigitte Llanas  Bordeaux, France,
Bordeaux University Hospital  		» Ped. center
Laura Econimo  Brescia, Italy,
Brescia ASST Spedali Civili Brescia  		» Adult center
Claudia Izzi  Brescia, Italy,
Brescia ASST Spedali Civili Brescia  		» Adult center
  Karin Dahan  Brussels, Belgium,
Brussels Cliniques universitaires Saint-Luc - UCL  		» Adult center
Olivier Devuyst  Brussels, Belgium,
Brussels Cliniques universitaires Saint-Luc - UCL  		» Adult center
Axel Feyaerts  Brussels, Belgium,
Brussels Cliniques universitaires Saint-Luc - UCL  		» Adult center
Nathalie Godefroid  Brussels, Belgium,
Brussels Cliniques universitaires Saint-Luc - UCL  		» Ped. center
  István Máttyus  Budapest, Hungary,
Budapest Semmelweis University  		» Ped. center
George Reusz  Budapest, Hungary,
Budapest Semmelweis University  		» Ped. center
  Péter Sallay  Budapest, Hungary,
Budapest Semmelweis University  		» Ped. center
  Attila Szabo  Budapest, Hungary,
Budapest Semmelweis University  		» Ped. center
Kalman Tory  Budapest, Hungary,
Budapest Semmelweis University  		» Ped. center
Sita Arjune  Cologne, Germany,
Cologne University Hospital  		» Adult center
  Sören Bäumner  Cologne, Germany,
Cologne University Hospital  		» Ped. center
Kathrin Burgmaier  Cologne, Germany,
Cologne University Hospital  		» Ped. center
  Volker Burst  Cologne, Germany,
Cologne University Hospital  		» Adult center
Sandra Habbig  Cologne, Germany,
Cologne University Hospital  		» Ped. center
Max Liebau  Cologne, Germany,
Cologne University Hospital  		» Ped. center
  Roman-Ulrich Mueller  Cologne, Germany,
Cologne University Hospital  		» Adult center
Lutz Weber  Cologne, Germany,
Cologne University Hospital  		» Ped. center
Hanne Nørgaard  Copenhagen, Denmark,
Copenhagen Rigshospitalet University Hospital  		» Ped. center
Dorota Drozdz  Cracow, Poland,
University Children's Hospital of Cracow  		» Ped. center
  Agnieszka Jaskolska  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
  Peter J Conlon  Dublin, Ireland,
Dublin Beaumont Hospital  		» Adult center
  Atif Awan  Dublin, Ireland,
Dublin Children`s Health Ireland (CHI) at Temple Street  		» Ped. center
Karl Hilgers  Erlangen, Germany,
Erlangen University Hospital  		» Adult center
  Michael Wiesener  Erlangen, Germany,
Erlangen University Hospital  		» Adult center
Anja Büscher  Essen, Germany,
Essen University Children`s Hospital  		» Ped. center
Rainer Büscher  Essen, Germany,
Essen University Children`s Hospital  		» Ped. center
Lars Pape  Essen, Germany,
Essen University Children`s Hospital  		» Ped. center
Francesca Becherucci  Florence, Italy,
Florence Meyer Children’s Hospital IRCCS  		» Ped. center
  Lorenzo Masieri  Florence, Italy,
Florence Meyer Children’s Hospital IRCCS  		» Ped. center
Paola Romagnani  Florence, Italy,
Florence Meyer Children’s Hospital IRCCS  		» Ped. center
Augusto Vaglio  Florence, Italy,
Florence Meyer Children’s Hospital IRCCS  		» Ped. center
  Piotr Czarniak  Gdansk, Poland,
Gdansk University Clinical Centre  		» Ped. center
Beata Lipska-Zietkiewicz  Gdansk, Poland,
Gdansk University Clinical Centre  		» Ped. center
Michal Maternik  Gdansk, Poland,
Gdansk University Clinical Centre  		» Ped. center
Aleksandra Zurowska  Gdansk, Poland,
Gdansk University Clinical Centre  		» Ped. center
Gianluca Caridi  Genoa, Italy,
Genoa Istituto Giannina Gaslini  		» Ped. center
Francesca Lugani  Genoa, Italy,
Genoa Istituto Giannina Gaslini  		» Ped. center
Giorgio Piaggio  Genoa, Italy,
Genoa Istituto Giannina Gaslini  		» Ped. center
Lien Dossche  Ghent, Belgium,
Ghent UZ Ghent  		» Ped. center
  Ann Raes  Ghent, Belgium,
Ghent UZ Ghent  		» Ped. center
Johan Vande Walle  Ghent, Belgium,
Ghent UZ Ghent  		» Ped. center
  Jill Vanmassenhove  Ghent, Belgium,
Ghent UZ Ghent  		» Adult center
Charlotte Bootsma-Robroeks  Groningen, Netherlands,
Groningen University Medical Center  		» Ped. center
Margriet de Jong  Groningen, Netherlands,
Groningen University Medical Center  		» Adult center
Ron Gansevoort  Groningen, Netherlands,
Groningen University Medical Center  		» Adult center
Valentina Gracchi  Groningen, Netherlands,
Groningen University Medical Center  		» Ped. center
Esther Meijer  Groningen, Netherlands,
Groningen University Medical Center  		» Adult center
Josine Quadackers  Groningen, Netherlands,
Groningen University Medical Center  		» Ped. center
  Kai Schmidt-Ott  Hannover, Germany,
Hannover Medical School  		» Adult center
Ruthild Weber  Hannover, Germany,
Hannover Medical School  		» Ped. center
Stefanie Haeberle  Heidelberg, Germany,
Heidelberg University Hospital  		» Ped. center
Vanessa Merck  Heidelberg, Germany,
Heidelberg University Hospital  		» Ped. center
Franz Schaefer  Heidelberg, Germany,
Heidelberg University Hospital  		» Ped. center
Burkhard Toenshoff  Heidelberg, Germany,
Heidelberg University Hospital  		» Ped. center
Tanja Wlodkowski  Heidelberg, Germany,
Heidelberg University Hospital  		» Ped. center
Elke Wühl  Heidelberg, Germany,
Heidelberg University Hospital  		» Ped. center
Elisa Ylinen  Helsinki, Finland,
Helsinki Children´s Hospital, Helsinki University Hospital  		» Ped. center
Johan de Fijter  Leiden, Netherlands,
Leiden University Medical Center  		» Adult center
Friederike Petzold  Leipzig, Germany,
Leipzig University Hospital  		» Adult center
Bert Bammens  Leuven, Belgium,
Leuven University Hospitals  		» Adult center
Kathleen Claes  Leuven, Belgium,
Leuven University Hospitals  		» Adult center
Djalila Mekahli  Leuven, Belgium,
Leuven University Hospitals  		» Ped. center
Nina Battelino  Ljubljana, Slovenia,
Ljubljana University Medical Centre  		» Ped. center
Matjaz Kopac  Ljubljana, Slovenia,
Ljubljana University Medical Centre  		» Ped. center
Anamarija Meglič  Ljubljana, Slovenia,
Ljubljana University Medical Centre  		» Ped. center
Gregor Novljan  Ljubljana, Slovenia,
Ljubljana University Medical Centre  		» Ped. center
Rina Rus  Ljubljana, Slovenia,
Ljubljana University Medical Centre  		» Ped. center
Agnieszka Gach  Lodz, Poland,
Lodz Instytut  		» Ped. center
  Monika Pawlak-Bratkowska  Lodz, Poland,
Lodz Instytut  		» Ped. center
  Małgorzata Stańczyk  Lodz, Poland,
Lodz Instytut  		» Ped. center
Marcin Tkaczyk  Lodz, Poland,
Lodz Instytut  		» Ped. center
Mar Espino Hernandez  Madrid, Spain,
Madrid Hospital Universitario 12 de Octubre  		» Ped. center
Evangelina Merida  Madrid, Spain,
Madrid Hospital Universitario 12 de Octubre  		» Adult center
  Marta Moreno  Madrid, Spain,
Madrid Hospital Universitario 12 de Octubre  		» Adult center
Alfredo Rodriguez  Madrid, Spain,
Madrid Hospital Universitario 12 de Octubre  		» Adult center
Angel Sanchez  Madrid, Spain,
Madrid Hospital Universitario 12 de Octubre  		» Adult center
  Maria Teresa Sanchez  Madrid, Spain,
Madrid Hospital Universitario 12 de Octubre  		» Adult center
Valentina Capone  Milan, Italy,
Milan IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
  Federica Collino  Milan, Italy,
Milan IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
Antonio Mastrangelo  Milan, Italy,
Milan IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
Giovanni Montini  Milan, Italy,
Milan IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
  William Morello  Milan, Italy,
Milan IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
  Nicola Persico  Milan, Italy,
Milan IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
  Francesca Taroni  Milan, Italy,
Milan IRCCS Ca' Granda Ospedale Maggiore Policlinico  		» Ped. center
Denis Morin  Montpellier, France,
Montpellier University Hospital  		» Ped. center
Jens Koenig  Münster, Germany,
Münster University Hospital  		» Ped. center
  Petra Pennekamp  Münster, Germany,
Münster University Hospital  		» Ped. center
Giovambattista Capasso  Naples, Italy,
Naples UOC Nephrology and Dialysis - Università della Campania  		» Adult center
Stefano Guarino  Naples, Italy,
Naples UOC Nephrology and Dialysis - Università della Campania  		» Ped. center
Pierluigi Marzuillo  Naples, Italy,
Naples UOC Nephrology and Dialysis - Università della Campania  		» Ped. center
Guiseppe Orefice  Naples, Italy,
Naples UOC Nephrology and Dialysis - Università della Campania  		» Adult center
Mariadelina Simeoni  Naples, Italy,
Naples UOC Nephrology and Dialysis - Università della Campania  		» Adult center
Miriam Zacchia  Naples, Italy,
Naples UOC Nephrology and Dialysis - Università della Campania  		» Adult center
  Ernie Bongers  Nijmegen, Netherlands,
Nijmegen Radboud UMC  		» Adult center
Tom Nijenhuis  Nijmegen, Netherlands,
Nijmegen Radboud UMC  		» Adult center
Michiel Schreuder  Nijmegen, Netherlands,
Nijmegen Radboud UMC  		» Ped. center
  Marijn Stokman  Nijmegen, Netherlands,
Nijmegen Radboud UMC  		» Ped. center
Nicole van de Kar  Nijmegen, Netherlands,
Nijmegen Radboud UMC  		» Ped. center
Susanna Negrisolo  Padua, Italy,
Padua Azienda Ospedaliera di Padova  		» Ped. center
  Elodie Cheyssac  Paris, France,
Paris Hospital Robert Debre  		» Ped. center
Olivia Boyer  Paris, France,
Paris Necker-Enfants Malades University Hospital  		» Ped. center
Laurence Heidet  Paris, France,
Paris Necker-Enfants Malades University Hospital  		» Ped. center
Alberto Caldas Afonso  Porto, Portugal,
Porto Centro Hospitalar Universitário do Porto  		» Ped. center
Teresa Costa  Porto, Portugal,
Porto Centro Hospitalar Universitário do Porto  		» Ped. center
  Paula Matos  Porto, Portugal,
Porto Centro Hospitalar Universitário do Porto  		» Ped. center
  Luis Salazar  Porto, Portugal,
Porto Centro Hospitalar Universitário do Porto  		» Ped. center
  Dana Thomasova  Prague, Czech Republic,
Prague University Hospital Motol  		» Ped. 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,
Rotterdam Erasmus MC: University Medical Center Rotterdam  		» Ped. center
Angela Garcia Rojas  Sevilla, Spain,
Sevilla Complejo Hospitalario Regional Virgen del Rocio  		» Ped. center
Peter Barany  Stockholm, Sweden,
Stockholm Karolinska University Hospital  		» Adult center
Maria Herthelius  Stockholm, Sweden,
Stockholm Karolinska University Hospital  		» Ped. center
Stephane Decramer  Toulouse, France,
Toulouse University Hospital  		» Ped. center
  Joost Schanstra  Toulouse, France,
Toulouse University Hospital  		» Ped. center
Thomas Simon  Toulouse, France,
Toulouse University Hospital  		» Ped. center
Luigi Biancone  Turin, Italy,
Turin AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Elena Boaglio  Turin, Italy,
Turin AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Manuel Burdese  Turin, Italy,
Turin AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Caterina Dolla  Turin, Italy,
Turin AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Roberta Giraudi  Turin, Italy,
Turin AOU Città della Salute e della Scienza di Torino - Molinette Hospital  		» Adult center
Bruno Gianoglio  Turin, Italy,
Turin AOU CSS di Torino - Regina Margherita Hospital  		» Ped. center
Francesca Mattozzi  Turin, Italy,
Turin AOU CSS di Torino - Regina Margherita Hospital  		» Ped. center
Licia Peruzzi  Turin, Italy,
Turin AOU CSS di Torino - Regina Margherita Hospital  		» Ped. center
Silvia Pieretti  Turin, Italy,
Turin AOU CSS di Torino - Regina Margherita Hospital  		» Ped. center
  Martina Cozzi  Turin, Italy,
Turin University of Torino-Ospedale HUB Torino Nord  		» Adult center
Dario Roccatello  Turin, Italy,
Turin University of Torino-Ospedale HUB Torino Nord  		» Adult center
  Tom de Jong  Utrecht, Netherlands,
Utrecht University Medical Centre  		» Ped. center
  Slaats Gisela  Utrecht, Netherlands,
Utrecht University Medical Centre  		» Ped. center
  Mandy Keijzer-Veen  Utrecht, Netherlands,
Utrecht University Medical Centre  		» Ped. center
  Aart Klijn  Utrecht, Netherlands,
Utrecht University Medical Centre  		» Ped. center
  Marc Lilien  Utrecht, Netherlands,
Utrecht University Medical Centre  		» Ped. center
  Gerrit Van den Berg  Utrecht, Netherlands,
Utrecht University Medical Centre  		» Ped. center
Augustina Jankauskiene  Vilnius, Lithuania,
Vilnius University Hospital Santaros Klinikos  		» Ped. center
Gilvydas Verkauskas  Vilnius, Lithuania,
Vilnius University Hospital Santaros Klinikos  		» Ped. center
Klaus Arbeiter  Affiliated partner Vienna, Austria,
Vienna Department of Pediatrics; Vienna General Hospital  		» Ped. center
  Pietro Manuel Ferraro  External University Verona - Department of Medicine 
  Daniel Gale  External Royal Free London 
Kjell Tullus  External London, Great Ormond Street Hospital 
Adrian Woolf  External Manchester, Manchester University Foundation Trust 
  Sarah Bingham  Patient representative Supporting Partner 
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) 
Uwe Korst  Patient representative Bundesverband Niere e.V. (Bundesverband-niere.de)