Current research aims to identify genotype-phenotype correlations of ADTKD-HNF1B to predict disease development in patients, as well as developing treatment strategies. This is done by genetic screening for HNF1B mutations in patient cohorts with symptoms also found in the ADTKD-HNF1B syndrome. An increasing number of transcriptional targets of HNF1B has been identified over the years. However, the contribution of these targets to the disease in not studied in detail yet. Therefore, a considerable amount of research is aimed at identifying which transcriptional targets of HNF1B contribute to the different phenotypes observed in patients. Increasing knowledge about the disease mechanism could possibly provide a new bases for predicting disease phenotype in patients by measuring transcription levels of HNF1B targets in urine.
HNF1B