ADTKD-HNF1B is a heterogenous disease with very limited genotype-phenotype correlation. Consequently, a large percentage of HNF1B patients is currently not recognized or misdiagnosed. At present, deciding whether a patient should be genetically screened comes down to the presence of clinical suspicion and the awareness of the physician. Renal cysts, hypomagnesemia and maturity onset diabetes are the main indications for genetical screening for HNF1B mutations. Especially when other symptoms are present such as renal, pancreatic and genital abnormalities, electrolyte disorders, abnormal liver tests, and family history. However, the sensitivity and specificity of this score should be tested in large cohorts before proven useful. Deletion testing (e.g. by MLPA or next-generation sequencing) is essential when subjecting patients to genetic analysis, since ±50% of all cases are caused by deletions of the whole gene or multiple genes (17q12 deletion).
Currently there is no targeted treatment for the disorder. The care of ADTKD-HNF1B patients is focused on treating disturbed organ function. In most patients kidney function deteriorates over time eventually leading to kidney failure and need for kidney replacement therapy. However, as a result of the large variance in severity of disease between patients, the prognosis of these patients is not well known. Although no targeted treatment is available yet, it is important that diagnosis of the syndrome will be improved. If so, patients can be screened for phenotypes related to the disease genetic counselling to patients and their families can be offered.