Dear members of the ERKNet members,
Leire Madariaga and Jeroen de Baaij kindly ask for your support in the identification of patients with suspected Nephrogenic Diabetes Insipidus (NDI) / vasopressin resistance who remain genetically unsolved.
Recently, a novel candidate gene has been identified in a family with NDI/vasopressin resistance who tested negative for pathogenic variants in the known disease-causing genes V2R and AQP2. To further investigate the relevance of this candidate gene, we aim to collect additional patients with clinically suspected NDI who are negative for V2R/AQP2 mutations, in order to screen them for potential pathogenic variants.
To support this effort, a short survey (“Unsolved NDI Survey”) has been developed. The survey will take less than one minute to complete, and your response would be highly appreciated. Each submission will be followed up personally to discuss potential next steps and further collaboration.
This survey is intended for physicians managing patients with suspected or confirmed NDI/vasopressin resistance and aims to facilitate the identification of additional cases for genetic evaluation. Please note that, in line with ethical requirements, only patients with appropriate informed consent (ERKReg informed consent or equivalent) will be eligible for further analyses.
Please provide your contact details when completing the survey. The research investigators will directly get in touch with you for a follow-up survey and to discuss potential next steps.
If you have any questions, please do not hesitate to contact:
Leire Madariaga (leyre.madariagadominguez@osakidetza.eus)
Jeroen de Baaij (jeroen.debaaij@radboudumc.nl)
Thank you very much for your support and collaboration.
Best wishes,
Your ERKNet Team
on behalf of
Leire Madariaga & Jeroen de Baaij
This study is supported by the ERKNet Tubulopathies Working Group
