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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
Type
Published Article
Journal
Nephrology Dialysis Transplantation
0931-0509
Publisher
Oxford University Press
Publication Date
Volume
12
Issue
9
Pages
1900–1907
Identifiers
PMID: 9306341
Source
Medline

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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