Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1 beta) mutations.
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.
Lebrun
Gaëtan
G
Université Paris-Descartes, Faculté de Médecine, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.
Vasiliu
Viorel
V
Bellanné-Chantelot
Christine
C
Bensman
Albert
A
Ulinski
Tim
T
Chrétien
Yves
Y
Grünfeld
Jean-Pierre
JP
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
C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta