Liaison ESPN Registry:
Liaison Council : Max Liebau
Liaison ERA-EDTA : Francesco Emma
Working group reports
Working group publications
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)
For the list of future webinars visit the ERKNet webinar page.
Current working group studies
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
Cystinuria guidelines (Elena Levtchenko and Aude Servais). Submitted
Bartter guidelines (Martin Konrad). Written – final revision before submission