Parents

Mutations in or deletions of HNF1B cause tubulointerstitial kidney disease subtype HNF1B (ADTKD-HNF1B). Approximately 1:120000 people are born with a defect in HNF1B. HNF1B is important for the regulation of a number of genes that play a role in the development of organs including the kidneys, pancreas and liver. The severity and manifestation of the disease is highly variable even amongst family members. Some of the main clinical features are kidney cyst or other kidney malformations, defects in salt handling and diabetes.