The working groups regularly conduct online surveys to collect data on specific research questions concerning individual diseases. This instrument has proven highly successful as it allows to quickly obtain information from large numbers of patients with rare conditions. The surveys are set up and circulated by the ERKNet central office to the ERKNet member mailing list.
Open ERKNet Surveys
Dear ERKNet Member,
Manuel Anderegg and Jan Halbritter from Berlin Charité are kindly asking you for your help regarding the identification of patients with monoallelic pathogenic variants in CLDN16/CLDN19. CLDN16 and CLDN19 have been identified as the causative genes in Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) 20 years ago. FHHNC is an autosomal-recessive disease with childhood onset. However, recent data (including data from the Bern Kidney Stone Registry) indicate that monoallelic (likely) pathogenic variants in CLDN16/19 may function as risk-alleles for kidney stone disease (of special interest is the following CLDN16 variant: NM_006580.4 c.458A>G, p.Asn153Ser)
This survey is intended for all physicians who manage kidney stone patients to help catching the full spectrum of CLDN16/19-associated disease. Contribution of fully characterized patients will result in co-authorships (2 co-authorships per family) and banner authorships (for additional authors).
We kindly request your assistance by letting us know, if you follow patients with monoallelic CLDN16/19 alterations at your institution. Please provide your contact details at https://www.surveymonkey.com/r/ERKNet_CLDN16_CLDN19 (please copy/paste, if the link is not working). The team from Berlin Charité will get in touch with you directly.
As ethical approval is an important factor, only patients with signed informed consent are eligible for the survey. Contribution of additional cases with clinical data will be acknowledged by co-authorship.
Thank you very much for your support!
Best wishes,
Your ERKNet team
on behalf of Manuel Anderegg and Jan Halbritter and the teams at Berlin Charité
***This study is supported by the ERKNet WG on Metabolic Disorders***
Dear ERKNet members,
we invite you to participate in a brief online survey exploring kidney injury in individuals with ectopic kidney tissue (pelvic, horseshoe, lumbar, cross-fused ectopy, ..) —a clinical area where current scientific knowledge remains limited. This study is supported by the ERKNet CAKUT and ciliopathies Working Group.
Despite seeing these patients in practice, much is still unknown about their long-term prognosis. Specifically, we lack robust data on whether individuals with ectopic renal tissue are at greater or lesser risk of progressive kidney injury, and which clinical factors may predict a worse outcome. This uncertainty increases the risk of both over- and undertreatment, leading to potential harm from unnecessary interventions—or missed opportunities for early care.
Aim of the Survey:
Our goal with this survey is to gather insights from (pediatric and adult) nephrologists within ERKNet to help define current practice patterns and identify key knowledge gaps. Your input will contribute to a better understanding of these rare conditions and support future efforts to guide evidence-based management.
Survey Access:
Please follow the link below to access the survey:
https://www.surveymonkey.com/r/K3NDJGF
(Please copy and paste the URL into your browser if the link doesn’t work.)
Estimated Time per Patient: Approximately 5 minutes. Multiple patients can be added in one session.
Authorship Acknowledgement:
We will honor your contribution as follows (1 authorship per center):
- 8 or more patients entered: An authorship in the publication of this work
Further Information:
For more details, please contact: ri.westland@amsterdamumc.nl
Thank you for your participation. Your expertise is crucial for improving the care of children and adults with ectopic kidneys.
Best regards,
The ERKNet coordination team on behalf of
Rik Westland, Amsterdam UMC, Amsterdam
Jaap Mulder, Erasmus MC, Rotterdam
Michiel Schreuder, Radboudumc, Nijmegen
I am Floriana Secondulfo and I am a Nephrology student doing a research fellowship project on proximal renal tubular acidosis (pRTA): the objective is to collect and analyze information about patients to better understand this rare disease.
We would like to include all patients with isolated pRTA with either a genetic confirmation of SLC4A4and CA2 variants or patients with secondary pRTA induced by carbonic anhydrase inhibitors (acetazolamide, methazolamide, topiramate, dichlorphenamide, brinzolamide...).
Both groups will be analyzed separately.
Since proximal renal tubular acidosis constitutes a very rare condition, your contribution would be very helpful!
Please use following link to participate in the survey: https://www.surveymonkey.com/r/DF8FZK8
Thank you for your time and contribution!
Dear ERKNet colleague;
We kindly invite you to participate in the Complex Genetics in Polycystic Kidney Disease (PKD) Survey Study. This survey is undertaken on behalf of the Autosomal Dominant Structural Kidney Disorders Workgroup of ERKNet.
The aim is to assess the impact of complex genetics on the phenotype of ADPKD in both children and adults.
Authorship Acknowledgement:
We will honor your contribution as follows (1 authorship per center):
- 4 or more patients entered = Formal co-authorship
- 1-3 patients entered = Study group authorship
Survey Access:
Please follow the link below; which will bring you to our electronic data capture system. Please note that the data entry for each patient should be completed in a single session. The estimated time per patient is 10-15 minutes.
(please copy and paste the URL into your browser; if the link isn´t working)
If you have any questions; please don't hesitate to let us know.
Best wishesYour ERKNet Team
on behalf of The Rotterdam Kidney Lab;
Matin Annaji: coordinating investigator - m.annaji@erasmusmc.nl
Anahita Noruzi: MD/PhD student – a.noruzi@erasmusmc.nl
Mahdi Salih: m.salih@erasmusmc.nl
ARPKD and Pregnancy Outcomes: Building a Collaborative Case Series – Fill in the survey and give your contribution!
We are launching a new research collaboration focused on Autosomal Recessive Polycystic Kidney Disease (ARPKD) and pregnancy. Our aim is to collect and analyse data on pregnancy outcomes in women with ARPKD, with particular attention to both maternal health and neonatal outcomes. We invite colleagues who have managed such pregnancies to contribute cases toward building a comprehensive series.
However, even if you have not encountered such cases, your response is still incredibly valuable. Knowing the number of clinicians who have or haven't managed these pregnancies helps us gauge the prevalence and awareness of ARPKD pregnancies across Europe. This survey will be distributed among ERA members, ERKNet members, and ARegPKD collaborators.
You can access the survey here: https://forms.office.com/pages/responsepage.aspx?id=PUrf3MDQY0qUz3gZgSSb5TjbwOwHmS5JnKyJRBTrC6FUMzM3NlNLM0tZVUlTNTgwVzc2NzZESFhVMy4u&route=shorturl
(Please note: You may need to copy and paste the link to access it.)
You are kindly asked to participate in this brief survey, which will take less than a minute. Whether your answer is "Yes" or "No," your input is crucial and greatly appreciated.
Thank you very much for your valuable support!
Margriet Gosselink, Albertien van Eerde, Max Liebau
If you have any questions or inquiries, please send them to erfelijkenierziekten@umcutrecht.nl
Dear colleagues,
As you are aware, atypical hemolytic uremic syndrome is a rare thrombotic microangiopathy, with one of its primary risks being progression to renal failure. Extra-renal manifestations can occur, including neurological symptoms , myocardial infarction, pulmonary hemorrhage, ischemic colitis, pancreatitis, hepatocellular injury, and peripheral vascular disease.
We have collected intriguing data from two pediatric French patients with factor H deficiency receiving long-term eculizumab (i.e. > 5 years) and displaying a peculiar bone phenotype associating bone pain, deformations and lysis just before puberty. One of them also suffers eye damage, which is currently being investigated.
This condition has never been described before. Therefore, we are interested in determining whether similar cases have been identified in European centers, which is why we are conducting this survey.
We sincerely appreciate your time in completing this questionnaire, which should take no more than 10 minutes.
Of course, all contributors of one case or more will be co-authors (or at least in the acknowledgements depending on the maximal number of authors authorized in the different journals)
The target population for our study would be: pediatric patients diagnosed with aHUS, treated with eculizumab, showing bone or ocular impairment.
Population of interest:
-Patients < 18-year-old at time of diagnosis
-Patients diagnosed with atypical hemolytic uremic syndrome
-Patients treated with eculizumab
-Patients presenting any kind of bone impairment and/or ocular symptoms
This anonymized survey was approved by the local ethic comity, the Comité scientifique et éthique du CHU des Hospices Civils de Lyon (Registry number 22_5953).
***This survey is supported by the WG Groups TMA and Pediatric CKD/DIalysis"****
Dear ERKNet Members,
We are reaching out to invite your participation in a collaborative project focused on growth data in patients with nephrogenic diabetes insipidus (NDI). This initiative is being led by Giulio Rivetti, under the guidance of Francesco Trepiccione and Francesco Emma.
The aim of this project is to collect and analyze growth data for NDI patients to address a significant knowledge gap—the last major study on this topic was conducted over 20 years ago. Giulio has developed a simple and efficient data collection file to capture a limited amount of key information.
We kindly ask participating centers to fill out the provided spreadsheet and send a scanned, anonymized copy of the patient’s growth chart, labeled with a patient code. To ensure meaningful results, we are primarily looking for data from patients who have completed their growth, so we propose a minimum age limit of 10 years.
Your support and contributions will be invaluable to advancing our understanding of growth patterns in patients with NDI.
Thank you for considering this request, and we look forward to your participation.
Best regards,
Giulio and Francesco
Dear ERKNet Member,
Jan Halbritter from Berlin Charité and Emilie Cornec Le Gall from Brest University are kindly asking you for your help regarding the identification of patients with pathogenic variants in OFD1. OFD1 has been identified as the causative gene in oro-facial-digital syndrome (OFD) more than 20 years ago. OFD1 is an X-linked disease that is usually embryonic lethal in males affected. However, females may present with syndromic or non-syndromic disease partially mimicking PKD in adulthood. On the basis of a bicentric cohort (n>20), we initiated clinical and functional evaluation. For further clinical comparison, we would love to include more cases suffering from this rare disorder. According to our preliminary data, we hypothesize that OFD1 is largely underrecognized in adult females presenting with atypical cystic kidney disease, notably when syndromic presentation is missing.
This survey is intended for all physicians who manage PKD patients to help catching the full spectrum of OFD1-associated disease. Contribution of fully characterized patients will result in a co-authorship (> 2 patients) or banner authorship (1-2 patients).
We kindly request your assistance by letting us know, if you have identified patients with this disorder at your institution. Please provide your contact details at https://www.surveymonkey.com/r/OFD1patients
(please copy/paste, if the link is not working). The team from Berlin Charité will get in touch with you directly.
As ethical approval is an important factor, only patients with signed informed consent are eligible for the survey. Contribution of additional cases with clinical data will be acknowledged by co-authorship.
Thank you very much for your support!
Best wishes,
Your ERKNet team
on behalf of Jan Halbritter, Emilie Cornec-Le Gall and the teams at Berlin Charité and Brest University
***This study is supported by the ERKNet WG on Metabolic Disorders***
Dear ERKNet Member,
Our colleagues from Berlin Charité are kindly asking you for your help regarding the identification of patients with biallelic variants in BCS1L (https://www.omim.org/entry/603647?search=BCS1L&highlight=bcs1l).
Biallelic mutations in BCS1L are causally related with a mitochondrial disease (Complex III deficiency) that has various renal and extrarenal manifestations. On the kidney level, it primarily leads to Fanconi syndrome, RTA, and nephrocalcinosis.
On the basis of our index case, we initiated functional characterization by means of huREC-based assays including mito-stress. For further clinical comparison, we would love to include more cases suffering from this ultra-rare disease.
We kindly request your assistance by letting us know, if you have identified patients with this disorder at your institution. Please provide your contact details below. The team from Berlin Charité will get in touch with you directly
https://de.surveymonkey.com/r/BCS1Lpatients
As ethical approval is an important factor, only patients with signed informed consent are eligible for the survey. Contribution of additional cases with clinical data will be acknowledged by co-authorship.
Thank you very much for your support!
Best wishes,
Your ERKNet team
on behalf of Jan Halbritter and team, Berlin Charité
***This study is supported by the ERKNet WG on Metabolic Disorders***
The EUROCYS subregistry team kindly invite you to participate in our survey regarding the practices and habits at your center for managing cystinuria patients
Your insights are invaluable in advancing our understanding of center habits and improving patient care.
If you would like to participate in the survey, please click on the following link: https://de.surveymonkey.com/r/Eurocys_diet
We thank you very much for your participation. For further questions please contact Yann Nedelec (yann.nedelec@aphp.fr)
Closed ERKNet Surveys
ERKNet research surveys conducted between 03/2019-09/2025
ERKNet Survey | Intraperitoneal Pressure Measurements (IPPM) | August 2025
Investigators: Ariane Zaloszyc (Strasbourg University Medical School), Claus Schmitt (University Hospital Heidelberg)
Aim: This survey aimed to gather insights into current practices and experiences with IPPM in European pediatric dialysis centres. Although IPPM has been used for over 20 years to optimize peritoneal dialysis dwell volume, there is still a lack of standardization and limited scientific evidence supporting its effectiveness. The study sought to better understand current practices and inform future scientific initiatives to improve the quality of care in pediatric dialysis.
Responses: 47 responses received.
Current status: The survey is closed. Data analysis is ongoing, and the manuscript is currently in preparation.
ERKNet Survey | Cystinuria and the Availability of Cystine-Binding Drugs | August 2025
Investigators: Rik Olde Engberink (Amsterdam Academic University Medical Center), Aude Servais (Paris Necker-Enfants Malades University Hospital), Elena Levtchenko (Amsterdam Academic University Medical Center)
Aim: This survey was initiated following reports that cystine-binding drugs are either unavailable or only limitedly available for the treatment of cystinuria in many countries. It aimed to gather detailed information on drug accessibility worldwide to help inform advocacy and improve treatment availability.
Responses: 40 completed responses.
Current status: The survey is closed. Data analysis is ongoing, and the manuscript is expected to be sent to co-authors soon.
ERKNet Survey | Pseudohypoaldosteronism type 1 (PHA1) | August 2025
Investigators: Marta Giaccari (Università Cattolica del Sacro Cuore, Rome, Italy) & Elena Levtchenko (Emma Children’s Hospitam, Amsterdam University Medical Centre)
Aim: To collect clinical data from centers treating patients with Pseudohypoaldosteronism type 1 (PHA1) — a rare and potentially life-threatening disorder — in order to advance understanding of its diagnosis, management, and long-term outcomes. The insights gathered will contribute to a multicenter analysis and help guide future care strategies.
Responses: Approximately 14 centers have contributed data.
Current status: The survey is officially closed. Data analysis has not yet resulted in publications, but findings will be shared once the paper is prepared.
ERKNet Survey | STEC-HUS | May 2025
Investigators: Carla Soto (ERKNet Research Exchange Fellow), Lieke ter Steeg, Kioa Wijnsma, Nicole van de Kar (Department of Pediatric Nephrology, Radboud University Medical Center, The Netherlands – ERKNet Reference Center)
Aim: To investigate Shiga toxin-producing E. coli hemolytic uremic syndrome (STEC-HUS) with a focus on epidemiology and diagnostic practices across ERKNet centers. The survey aimed to assess current diagnostic approaches used to confirm STEC infections in suspected STEC-HUS cases.
Responses: The survey received 36 responses.
Current status: The survey is closed, having reached a sufficient number of responses. The level of participation is considered representative and provides a strong basis for meaningful analysis in the next phase of the project.
ERKNet Survey on Green Dialysis Practices | February 2025
Investigators: Savino Sciascia, Marco, Manuel, Roberta Fenoglio, Dario Roccatello (HCP San Giovanni Bosco & University of Turin, Italy)
Aim: To assess the implementation of environmentally sustainable dialysis practices across referral centers for rare diseases in Europe. The survey seeks to identify current practices, challenges, and opportunities in green dialysis, fostering collaboration and improvements within the network.
Responses: The survey received 34 responses.
Current status: Results from the survey have been accepted for publication in Clinical Kidney Journal (CKJ).
ERKNet Survey | Long-Term Prognosis and Potential Adverse Effects Associated with CUBN Deficiency | September 2024
Investigators: Dr. Aude Servais and Dr. Elsa Ferriere (Necker Hospital, Paris)
Aim: To better understand the long-term prognosis and potential adverse effects associated with CUBN deficiency. Patients with biallelic pathogenic variants in the CUBN gene typically present with chronic proteinuria from childhood. Previous cohort studies suggested that renal function remains normal into adulthood. This survey aimed to gather comprehensive data to clarify long-term outcomes.
Responses: Approximately 60 responses collected (including 30 from Necker, Paris).
Current status: The survey is closed. Data analysis is pending, and no publication has yet been completed.
ERKNet Survey on GATA3 Mutations Causing HDR Syndrome | September 2024
Investigators: Jeroen de Baaij (Radboud UMC, Nijmegen)
Aim: To collect cases of GATA3 mutations causing HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and examine their electrolyte balance, particularly concerning magnesium homeostasis. Initially, the goal was to gather the names of physicians caring for these rare patients, with further data collection planned at a later stage.
Responses: The survey received 33 responses, with 23 respondents following up with data from a total of 71 patients.
Current status: The survey has officially closed, and data analysis is underway. Follow-up experiments are currently being performed based on the outcomes. Additional experimental data is being gathered to complement the clinical findings, and a publication is in preparation.
ERKNet Survey on Gitelman Syndrome | September 2024
Investigators: Ewout Hoorn, Michiel Wieers, Rotterdam
Initiated by: Tubulopathies Working Group
Aim: To analyze clinical practices and treatment approaches for pediatric and adult patients with a clinical and/or genetic diagnosis of Gitelman syndrome. The survey excludes patients with acquired Gitelman syndrome or Gitelman-like syndrome due to variants other than SLC12A3. The project will be extended by including a follow-up survey among Dutch patients to gain a patient perspective.
Responses: The survey was opened 855 times, with 512 fully and correctly filled responses, reflecting a 60% completion rate. Over 500 cases were submitted by nephrologists from 15 countries, with France leading in participation.
Current status: The survey has officially closed, and the data is currently being analyzed.
ERKNet Survey on Cut-Off Values for Phosphate and PTH | June 2024
Investigators: Stefanie Häberle (WG Pediatric CKD/Dialysis leads)
Aim: To gather the cut-off values used by ERKNet centers in their daily practice for valid analysis and interpretation of the two key performance indicators: serum phosphorus and PTH.
Responses: 38 responses from different units/HCPs across ERKNet, with good coverage throughout Europe.
Current status: The survey was analysed and presented at the 8th ERKNet Annual Meeting. The results will be taken into account in the future implementation of the ERKReg registry and the calculation of key performance indicators. We would like to thank all ERKNet centres that participated in this survey.
ERKNet Survey on Anesthesia and ICU Care in Pediatric Kidney Transplantation | December 2023
Investigators: Marieke Voet (Radboud UMC, Nijmegen), Marlies Cornelissen (Radboud UMC, Nijmegen)
Aim: To survey (pediatric) anesthesiologists and ICU doctors regarding their care practices for pediatric kidney transplant patients. The results aim to form the basis for a consensus guideline in this specialized area of care.
Current status: The survey has concluded, and the results were published in 2023. The publication can be accessed here:
Anesthesia and ICU care in pediatric kidney transplantation.
Persistent hypotension in anephric children | June 2023
Investigators: Justine Bacchetta; Jerome Harambat; Stephanie Tellier, Toulouse
Aim: To gather observations of prolonged hypotension in anephric children, a very rare but serious event.
Current status: The survey is finished, and results are currently being analyzed.
International survey of Inverted Formin nephropathy | May 2023
Investigator: Peter Conlon, Dublin
Aim: To collect clinical and genetic data from patients or families with inverted formin nephropathy treated by ERKNet members to understand the history of this rare disease.
ERKNet Survey | Patients with SLC26A1 or SLC13A1 Mutations
Investiagtor: Anja Pfau, Felix Knauf
Aim: Although SLC26A1 and SLC13A1 are key for sulfate reabsorption in the kidney, little is known about their mutations in humans. To address this, ERKNet members from Charité in Berlin will collect data on patients with these mutations, focusing on sulfate-related symptoms like musculoskeletal issues and kidney stones to better define their clinical profile.
Current status: The planned project had to be discontinued because the required approval for receiving the samples could not be obtained.
TRCP6 Nephropathy Project | May 2023
Investigator: Peter Conlon, Dublin
Aim: To study TRCP6 nephropathy patients or families to gain insight into the disease's history.
Current status: A paper on FAN1 nephropathy by Dr. Michelle Clince has been submitted to Kidney International. A manuscript by Dr. Darragh O’Donoghue is in preparation and expected to be submitted in the coming months.
The first paper has been published in Nephrol Dial Transplant and can be accessed here:
McAnallen et al., May 2025, Nephrology Dialysis Transplantation. Genotype–phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.
https://doi.org/10.1093/ndt/gfaf086
Cystinosis in your centre 2022 | April 2022
Investigators: Aurélia Bertholet-Thomas, Lyon; Justine Bachetta, Lyon; Elena Levtchenko, Leuven (WG metabolic nephropathies)
Aim: To update knowledge on the global health situation of patients with nephropathic cystinosis, to highlight persistent territorial disparities.
Current status: The results of the survey have been published in Pediatric Nephrology. The publication can be accessed here:
ERKNet collaboration request | January 2022
Investigators: Roman-Ulrich Müller, Christian Frezza, Cologne
Aim: To look for partners that can provide tumour samples from HLRCC in the framework of scientific collaboration.
Current status: This project was continued and led to a survey on HLRCC which resulted in an ongoing process of subregistry. The resulting interaction has now led to a first publication, endorsed by ERA GK, ERKNet, Genturis, eUROGEN, IKCC, and the ESP.
ePAG Driven ERKNet Survey | Electrolyte Supplement Products | 2021/22
Investigators: ERKNet patient advocacy group (ePAG), coordinated by Susana Carvajal Arjona
Aim: To identify available electrolyte supplement products and understand reimbursement practices across EU member states.
Current status: The survey was conducted in 2021/22, with data collected from 19 ERKNet centers, including participation from 15 expert centers across various countries. After data collection and review, the ePAG group compiled a report, which was presented to the Working Group on Tubulopathies and refined based on expert feedback. The survey results will serve as the basis for developing a list of equivalent electrolyte products to be published on the ERKNet website and will support advocacy efforts toward harmonized reimbursement policies across the EU. The results have also been published in Nephrology Dialysis Transplantation (NDT), and the publication can be accessed here:
Unmet need of electrolyte supplements | Nephrology Dialysis Transplantation | Oxford Academic
NDSAIs in NDI or Bartter | November 2021
Investigators: Detlef Bockenhauer, Francesca de Zen, Francesco Emma (WG tubulopathies)
Aim: To study the effect of long-term use of non-steroidal anti-inflammatory drugs (NSAID) on kidney function (as assessed by creatinine).
Response rate: 455
Current status: Data analysis is completed, and the manuscript is being finalized for submission.
GAMOS survey | Oktober 2021
Investigators: Dieter Haffner, Nele Kanzelmeyer, Hannover (WG hereditary glomeruopathies)
Aim: 1) to further characterize the clinical phenotype, especially specifying the renal and extra-renal manifestations, 2) to identify genotype-phenotype correlations, and 3) to collect information regarding clinical management and outcome.
Current status: The survey was not carried out due to a lack of responses.
Cinacalcet in children | October 2021
Investigators: Justine Bachetta, Sacha Flammier, Dieter Haffner, Rukshana Shroff, Claus Peter Schmitt (WG pediatric CKD and Dialysis)
Aim: To analyze the clinical indication, safety and efficacy of this calcimimetic in the youngest dialysis populations.
Current status: The results have been published in several articles, which are accessible here:
Safety and Efficacy of Cinacalcet in Children Aged Under 3 Years on Maintenance Dialysis
Alpart study | October 2021
Investigators: Titia Lely, Albertien van Eerde, Utrecht (WG hereditary glomerulopathies)
Aim: Retrospective cohort study to compare pregnancy outcomes of women with COL4A3-5 related disease (Alport syndrome, AS) to women with other chronic kidney diseases.
Response rate: 139
Current status: The data has been analyzed and published. The publication can be accessed here:
Pregnancy outcomes in women with Alport syndrome.
Long-term outcome of childhood idiopathic nephrotic syndrome | July 2021
Investigators: Giulia Bassanese, Marina Vivarelli, Licia Peruzzi (WG immune glomerulopathies)
Aim: To collect data that will improve the understanding of the natural history of idiopathic nephrotic syndrome
Current status: The survey has been completed. The results were presented at the 2023 ERKNet meeting, and the abstract was awarded Best Oral Presentation at the 2023 ESPN meeting in Vilnius. The paper is currently being finalized for publication.
ERKNet Survey | Membranous Nephropathy in Childhood | February 2021
Investigators: Marina Vivarelli (Rome), Julien Hogan (Paris), Pierre Ronco (Paris) – WG Hereditary Glomerulopathies
Aim: To identify European centres treating children with this rare glomerular disease, with the goal of establishing a platform for a larger study on appropriate antigenic screening in these patients.
Responses: Data collected on 110 primary membranous nephropathy cases and 71 secondary membranous nephropathy cases.
Current status: The survey is closed. Analysis of primary membranous nephropathy data has been completed and a manuscript is being drafted. Work on the secondary cases data is still pending. Plans are underway to transition to prospective data collection through ERKReg.
Patients with mutations in the sodium-phosphate cotransporter geneses (SCL3A3, SLC3A1) | February 2021
Investigators: ERKNet/ESPN. Dieter Haffner, Max Brunkhorst, Hannover; Francesco Emma, Rome; Elena Levtchenko, Leuven. (WG tubulopathies)
Aim: To analyze the natural history of these rare diseases, address genotype-phenotype associations, and to explore the use of phosphate supplementation.
Response rate: 188
Current status: The survey closed on May 30, 2021. Results published. The publication can be accessed here:
Brunkhorst et al., February 2025, Kidney International. Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT2a and NPT2c https://pubmed.ncbi.nlm.nih.gov/39461557/
Survey on primary coenzyme Q10 deficiency | Oktober 2020
Investigators: ERKNet, PodoNet, ESPN. Stefania Drovandi, Genoa; Beata Lipska, Gdansk, Franz Schaefer, Heidelberg (WG hereditary glomeruopathies)
Aim: To analyze the natural history of the disease, describe the spectrum and extent of extrarenal disease manifestations, address genotype-phenotype associations, and further explore the efficacy and clinical utility of CoQ10 treatment.
Current status: Results published. The publication can be accessed here:
Survey on HNF1B | June 2020
Investigators: Joost Schanstra, Stephane Decramer, Toulouse (WG CAKUT)
Aim: To collect data on a large set of patients with HNF-1ß gene anomalies and assess the influence of the type of HNF-1ß anomaly, transmission and ultrasound presentation on disease progression.
Response rate: 109
Current status: Results published. The publication can be accessed here:
Buffin Meyer et al., July 2024, Kidney International Reports. Incidence and outcomes of children with idiopathic nephrotic syndrome: a prospective study in the French pediatric cohort NEPHROVIR3.
https://doi.org/10.1016/j.ekir.2024.05.007
Children on immunosuppressant medication with COVID-19 | March 2020
Investigators: Kjell Tullus, Matko Marlais, London; Marina Vivarelli, Rome (WG Immune Glomerulopathies); Lars Pape, Hannover, Burkhard Tönshoff, Heidelberg (WG Pediatric Transplantation)
Aim: To gather information on cases of COVID-19 in children on immunosuppressant medication from the global pediatric community. Provide information which may help for clinical decision making and advice to patients.
Response rate: 125
Current status: Results published. The publications can be accessed here:
Survey on Fanconi-Bickel- Syndrome | April 2020
Investigators: Francesco Trepiccione, Naples; Aude Servais, Paris (WG Metabolic Nephropathies)
Aim: To obtain information on clinical features, diagnosis, therapy, and outcome of this ultrarare disease to get a close-up view of the disease and its variabilities to improve patient care.
Response rate: 94, data collection ongoing until 15th December 2020
Current status: The manuscript is in preparation. Preliminary data were presented at the latest meeting of the Metabolic and Stone Working Group in Venice.
Survey on Nephrogenic Diabetes Insipidus |June 2019
Investigator: Detlef Bockenhauer, London (WG Tubulopathies)
Response rate: 315
Current status: Results published. The publication can be accessed here:
ANCA associated vasculitis in childhood | December 2019
Investigators: Kjell Tullus, London; Marina Vivarelli, Rome (WG Immune Glomerulopathies)
Aim: better understanding of the burden of this disease, current treatment practices and long-term outcomes.
Response rate: 375, data are currently being analyzed
Current status: Results published. The publication can be accessed here:
Dent’s disease type 1 Survey | November 2019
Investigators: Gema Ariceta, Barcelona(WG Tubulopathies)
Aim: To investigate the prevalence, genetic variability, the clinical phenotype, and the long-term outcome of patients, as well as current treatment practices around Europe.
Response rate: 103
Current status: Draft manuscript finished.
Cystinuria Survey | September 2019
Investigators: Aude Servais, Paris, for the WG Metabolic and Stone Disorders
Aim: To create a specific cystinuria registry affiliated with ERKReg to better understand the long-term outcome of patients with cystinuria, as well as current treatment practices.
Response rate: 30
Current status: The survey was circulated in July for feedback. The next step is to send out the survey to collect the actual data, with plans to do so in September.
Survey on the current status of HRQoL assessment in ERKNet | July 2019
Investigators: Lars Pape, Hannover, for the QoL & Transition Taskforce
Aim: To measure and compare the quality of life of children and adults with rare kidney diseases and to develop and validate improvement strategies. The survey measures the current status of HRQoL assessment in ERKNet centres.
Response rate: 29
Survey on Nephrogenic Diabetes Insipidus |June 2019
Investigator: Detlef Bockenhauer, London (WG Tubulopathies)
Response rate: 315
Current status: Results published. The publication can be accessed here:
Landscape of current practice in aHUS treatment with eculizumab in Europe | May 2019
Investigator: Michal Malina, Newcastle (WG TMA)
Aim: To gather experience about the current practice of eculizumab treatment in countries throughout Europe
Response rate: 86, publication in preparation
Decline in GFR in FHHNC survey | April 2019
Investigators: Martin Konrad (WG tubulopathies)
Aim: Analysis of the evolution of renal function in FHHNC, either caused by CLDN16 or 19 defects
Response rate: 259 (56 from ERKNet centres)
Current status: Results are currently being analyzed.