title: Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations.
abstract: BACKGROUND
  The proband, a 33-year-old woman, presented with renal cysts, mild renal failure and a renal tumor. One of the proband's two sons had hyperechogenic kidneys and the other had renal cortical microcysts. Her 71-year-old mother had mild renal failure and small renal cysts.
  
  
  METHODS
  Ultrasonography, blood and urine analysis, MRI, CT scan, and genetic investigations focusing on the transcription factor 2 (TCF2) gene which encodes hepatocyte nuclear factor 1 beta.
  
  
  METHODS
  The proband was diagnosed with cystic kidney disease and chromophobe renal cell carcinoma, characterized by a 46delC germline mutation of TCF2 and a complete somatic deletion of TCF2 in the renal tumor. The germline TCF2 mutation was also present in the proband's sons and mother. Pancreas atrophy was detected in the proband and her mother.
  
  
  RESULTS
  Tumorectomy followed by radical nephrectomy of the left kidney 4 years later. Lisinopril (5 mg/day) and lifelong follow-up. The patient's sons will be regularly screened for progressive renal disease, diabetes mellitus and chromophobe renal cell carcinoma.
authors.affiliation: Université Paris-Descartes, Faculté de Médecine, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: Gaëtan
authors.initials: G
authors.lastname: Lebrun
authors.forename: Viorel
authors.initials: V
authors.lastname: Vasiliu
authors.forename: Christine
authors.initials: C
authors.lastname: Bellanné-Chantelot
authors.forename: Albert
authors.initials: A
authors.lastname: Bensman
authors.forename: Tim
authors.initials: T
authors.lastname: Ulinski
authors.forename: Yves
authors.initials: Y
authors.lastname: Chrétien
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Grünfeld
mesh_terms: D000328:Adult; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D005260:Female; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D007680:Kidney Neoplasms / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta