HNF1B

Clinical Characteristics

The phenotype of ADTKD-HNF1B consists of renal cysts and other renal abnormalities, including:

  • Multicystic dysplastic kidneys
  • Renal hypoplasia
  • Renal interstitial fibrosis
  • Renal agenesis
  • Solitary kidney
  • Horseshoe kidney
  • Hypomagnesemia
  • Hypokalemia
  • Hypocalciuria
  • Maturity-onset diabetes of the young (MODY) type 5
  • Pancreatic hypoplasia
  • Elevated liver enzymes
  • Genital tract malformations
  • Autism spectrum disorder (mainly in 17q12 deletions)
  • Mental retardation (mainly in 17q12 deletions)
  • Gout
  • Hyperparathyroidism