Dear ERKNet Member,
Jan Halbritter and Theresa Buhmann from Charité Berlin are kindly asking you for your help regarding the identification of patients with diagnostic variants in GANAB.
GANAB has been identified as a causative gene in Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Dominant Polycystic Liver Disease (ADPLD) nearly ten years ago (Porath et al., PMID: 27259053). Since then, only a few single cases and case series with additional GANAB patients have been reported. To date, pathogenic GANAB variants were associated with mostly mild to moderate kidney and variable liver phenotypes, however, data on systematic evaluation of larger cohorts is missing.
Based on a comprehensive literature research and our local cohort (n>80), we initiated a clinical and functional evaluation. For further clinical comparison, we are eager to include additional cases affected by this rare disorder. Our preliminary data suggest that the type of variant may characterize disease severity in both ADPKD and ADPLD.
This survey is intended for all physicians who manage PKD and PLD patients to help capturing the full spectrum of GANAB-associated disease. Contribution of characterized patients will be acknowledged with a co-authorship (≥ 2 patients) or a banner authorship (1 patient).
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. The Charité team will directly get in touch with you for a follow-up survey.
As ethical approval is an important factor, only patients with signed informed consent are eligible for the survey.
Thank you very much for your support!
Best wishes,
Your ERKNet team on behalf of Jan Halbritter at Charité Berlin
***This study is supported by the ERKNet WG on Autosomal dominant structural kidney disorders ***
