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A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease.

Authors
  • Longa, L
  • Scolari, F
  • Brusco, A
  • Carbonara, C
  • Polidoro, S
  • Valzorio, B
  • Riegler, P
  • Migone, N
  • Maiorca, R
Type
Published Article
Journal
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Publication Date
Sep 01, 1997
Volume
12
Issue
9
Pages
1900–1907
Identifiers
PMID: 9306341
Source
Medline
License
Unknown

Abstract

The presence of a deletion involving both TSC2 and PKD1 genes should be considered in the clinical assessment of TSC children with an early-onset polycystic kidney disease, and more generally in all ADPKD patients who develop end-stage renal failure prior to the fourth or fifth decade of life. Finally, the occurrence of typical renal and extrarenal signs of ADPKD in a PKD1 hemizygote individual seems to support concept that a somatic inactivation of the residual PKD1 gene is required for the development of the cysts.

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