Chair
Max Liebau, max.liebau@uk-koeln.de
Conflict of interest

Board Members
Bshara Mansour
Leire Madariaga
Rezan Topaloglu
Martine Besouw
George Costea (Young Fellow)

Liaison Council: Dieter Haffner
Liaison ERA: Elena Levthcenko

Working group reports

Working Group Education Activities

Upcoming webinar in autumn 2025 together with WG CAKUT on “CAKUT and Genetics”

Webinar together with ERA-EDTA February 2025: “Kidney Stones”
ESPN Speaker: Justine Bacchetta

November 2024: “Coming of age: inherited kidney diseases throughout life – Primary hyperoxaluria as a case example”
Moderators: Lars Pape, Lucile Figueres (ERA)
Speakers Jaap Groothoff, Sandrine Lemoine (ERA)

May 2024: “Recent developments in the field of SGLT2 inhibitors – towards new age groups”
Moderators: Levtchenko, Capasso (ERA)
Talks: Oliver Gross: “Rationale and protocol of a randomized controlled SGLT2 inhibitor trial in pediatric and young adult populations with CKD: DOUBLE PRO-TECT Alport.” And Louise Oni: “SGLT2i inhibitors: an example of the challenges in conducting clinical trials in children.”

the digital CME course organized by ESPN Working Group on Inherited Kidney Disorders
25th November, 2021
Agenda, Registration

Meeting of Inherited Kidney Disorders Working Group
22nd April, 2021
Agenda , Meeting Registration

WG Meeting
October 15, 2020
Agenda

Educational resources

Many of the ERKNet/IPNA webinars include inherited disorder topics:

  • Non-cystinotic renal Fanconic syndrome (Francesco Emma)
  • Disorders of water (Detlef Bockenhauer)
  • Primary hyperoxaluria (Jaap Groothoff)
  • Familial hypomagnesaemia (Gema Ariceta)
  • Renal involvement in TSC (Rosa Torra)
  • Cystic kidney disease and ciliopathies (Max Liebau)
  • Persistent glomerular microscopic haematuria/Alport syndrome (Rachel Lennon)
  • X-linked hypophosphataemic rickets in children and adults (Dieter Haffner)
  • Renal manifestations related COL4A1 mutations (Emmanuelle Plaisier)
  • Cystinosis – an update (Elena Levtchenko)
  • Monogenic causes of hypertension (Rosa Vargas-Poussou)
  • XLH: new recommendations (Dieter Haffner)
  • Fabry disease: the new great imposter (Olivier Lidove)
  • Genetics – basic concepts and testing (Beata Lipska)
  • Molecular genetics on Joubert syndrome (John Sayer)
  • Cystinuria (Bertrand Knebelmann)
  • Autosomal recessive polycystic kidney disease (Max Liebau)

PDFs and MP4 files from these previous webinars can be accessed here.

For the list of future webinars visit the ERKNet webinar page.

Current working group studies


Glucose-metabolism in early ADPKD: a multi-center study (supported by ESPN research grant).
A. Dachy, D. Mekahli

Collecting duct water reabsorption in cystinosis.
A. Ferrulli, G. Valenti, E. Levtchenko

The role of Copeptin as a biomarker of volume status in pediatric polyuric tubulopathies. study (supported by ESPN research grant).
A. Ferrulli, L. Madariaga

Use of NSAID in patients with tubulopathies.
F. Emma, D. Bockenhauer

HNF4A survey. 
P. Schlingmann, F. Emma

Nephrogenic diabetes insipidus (Detlef Bockenhauer, in association with ERA-EDTA and ERKNet). The study has collected data on long term outcome, including renal function, hydronephrosis, intellectual abilities and growth on patients with NDI. Enrolment terminated. Analysis ongoing.
PTH levels in Bartter and Gitelman (Francesco Emma, in association with ERKNet). Cross-sectional study to evaluate the prevalence of hyperparathyroidism in Gitelman syndrome. Enrolment terminated. Analysis ongoing.
European cystinosis registry – 1970-2010 (Francesco Emma). Analysis completed after inclusion of German patients – total number of patient 455.
dRTA registry (Maria Van Dyck, in association with ERKNet). Cross-sectional and prospective study to evaluate the prevalence and characteristics of patients with dRTA in Europe.
Twin patients with cystinosis (Elena Levtchenko). The goal is to collect 25 pairs of siblings with cystinosis to see if earlier diagnosis in the second sibling improves the outcome. Written – final revision before submission.

Proposed research studies

Working group guidelines

XLH update (published in 2025, NRN), D. Haffner

NDI (published in 2025, NRN), N.Knoers/E. Levtchenko

Dent (published in 2025, NDT), A. Bokenkamp

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

Cystinuria guidelines (Elena Levtchenko and Aude Servais). Submitted
Bartter guidelines (Martin Konrad). Written – final revision before submission

Other information