Abstract: Objective:To investigate the clinical manifestation and genetic features of renal disease in hepatocyte nuclear factor 1β （HNF1B）deficiency.    Methodology:We retrospectively analyzed the clinical data and genetic results of 4 patients from 3 families with HNF1B mutation.  SWISS-MODEL database was used for homology modeling and structural analysis to predict  protein  function  of  novel  mutations.     Results: Two  male  and  two  female  patients  were  included.  All presented  with  maturity-onset  diabetes  of  the  young，  multiple  renal  cysts，  renal  atrophy  and  hyperuricemia.  Extra-renal manifestations included unexplained liver dysfunction.  Three  of  them had impaired renal  function and  glomerular  filtration rate declined slowly during  follow-up.  Gene  tests  detected  three  novel  heterozygous  variants  （c. 445C>A､c. 1142dupT､c. 714G>C） in  HNF1B  gene，  including  two  missense  mutations  and  one  frameshift  mutation.  According  to  the  ACMG guidelines， they were estimated to be pathogenic or likely pathogenic.  In silico and computation analysis revealed possible structural origins of HNF1B dysfunction in the missense mutations.    Conclusion:For patients with renal cysts accompanied by diabetes， hyperuricemia， unexplained abnormal liver function or other extra-renal manifestations， family history should be carefully reviewed， and genetic test should be considered timely to rule out the possibility of HNF1B deficiency.

Key words: hepatocyte , nuclear  factor , 1β, autosomal  dominant , tubulointerstitial , kidney  disease , renal , cysts, maturity-onset diabetes of the young