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HNF1B nephropathy is characterized by dominantly inherited renal hypodysplasia with few cysts, slow renal decline and hypomagnesemia. Mice with antenatal inactivation of HNF1B are characterized by polycystic kidneys, renal failure and a profound decrease in cystic gene (Pkhd1, Umod, Pkd2) expression. Mice with inactivation after postnatal day 10 have no renal phenotype.

Expression of Renal Cystic Genes in Patients with <i>HNF1B </i>Mutations