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Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1β) mutations

Nature Clinical Practice Nephrology volume 1, pages 115–119 (2005)Cite this article

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.

Investigations Ultrasonography, blood and urine analysis, MRI, CT scan, and genetic investigations focusing on the transcription factor 2 (TCF2) gene which encodes hepatocyte nuclear factor 1β.

Diagnosis 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.

Management 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.

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Figure 1: Family pedigree.
Figure 2: Renal histopathological findings from the proband (III2).
Figure 3: Abdominal CT of II1 (the proband's mother) showing pancreas atrophy (arrow).
Figure 4: DNA sequence electrophoretogram of the 46delC germline mutation of TCF2 in the proband (III2).

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Author information

Authors and Affiliations

  1. a resident in nephrology,

    Gaëtan Lebrun

  2. an assistant in pathology,

    Viorel Vasiliu

  3. a urologist,

    Yves Chrétien

  4. Professor of Nephrology at the Université Paris-Descartes, Faculté de Médecine, AP-HP, Hôpital Necker-Enfants Malades, Paris, France

    Jean-Pierre Grünfeld

  5. a geneticist in the Department of Cytogenetics, AP-HP, Hôpital Saint-Antoine, Paris, France

    Christine Bellanné-Chantelot

  6. a nephropediatrician,

    Tim Ulinski

  7. Professor of Pediatric Nephrology at the AP-HP, Hôpital Armand Trousseau, Paris, France

    Albert Bensman

Authors
  1. Gaëtan Lebrun
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  2. Viorel Vasiliu
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  3. Christine Bellanné-Chantelot
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  4. Albert Bensman
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  5. Tim Ulinski
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  6. Yves Chrétien
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  7. Jean-Pierre Grünfeld
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Corresponding author

Correspondence to Jean-Pierre Grünfeld.

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The authors declare no competing financial interests.

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Lebrun, G., Vasiliu, V., Bellanné-Chantelot, C. et al. Cystic kidney disease, chromophobe renal cell carcinoma and TCF2 (HNF1β) mutations. Nat Rev Nephrol 1, 115–119 (2005). https://doi.org/10.1038/ncpneph0054

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  • DOI: https://doi.org/10.1038/ncpneph0054

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