Workgroup Tubulopathies

The Tubulopathies Working Group brings together clinical and scientific experts from across Europe who are committed to improving the diagnosis, treatment, and long-term outcomes of patients with rare inherited tubular disorders of the kidney. These include diseases such as distal renal tubular acidosis (dRTA), Bartter and Gitelman syndromes, nephrogenic diabetes insipidus (NDI), X-linked hypophosphatemia, Dent disease, cystinosis, and others. These conditions frequently lead to electrolyte imbalances, growth failure, nephrocalcinosis, or progressive kidney dysfunction.

The group’s activities focus on four main areas:

1. Clinical Guideline Development: The group develops and maintains evidence-based clinical practice guidelines to harmonize patient care across ERKNet centers. Current efforts include guidelines for dRTA, Bartter syndrome, Gitelman syndrome, X-linked hypophosphatemia, and NDI. All published guidelines can be accessed here.
2. Research and Data Analysis: Ongoing research projects use data from disease-specific subregistries within ERKReg, with active efforts focused on the dRTA and Bartter/Gitelman subregistries to better understand disease progression, treatment strategies, and outcomes in real-world settings.
3. Education and Knowledge Sharing: Through webinars, eLearning resources, and contributions to the ERKNet postgraduate curriculum, the group supports the education of healthcare professionals and promotes awareness and understanding of tubulopathies.
4. Collaboration and Networking: The group fosters interdisciplinary collaboration between pediatric and adult nephrologists, researchers, and patient organizations to ensure a comprehensive, patient-centered approach to care across Europe.

For more information on Tubulopathies visit our disease information Page