Mutations or deletions in HNF1B cause the autosomal dominant tubulointerstitial kidney disease subtype HNF1B (ADTKD-HNF1B). Approximately 1:120000 people are born with a defect in HNF1B. HNF1B is a transcription factor important for the regulation of a number of genes that play a role in the development of organs including the kidney, pancreas and liver. The multisystem disorder is characterized by a very heterogenous phenotype even amongst families. Some of the main clinical features are kidney cyst or other kidney malformations, hypomagnesemia and hypocalciuria and MODY.
HNF1B