Autosomal dominant polycystic kidney disease: gene... [Biochim Biophys Acta. 2011] - PubMed result

Biochim Biophys Acta. 2011 Mar 7. [Epub ahead of print]

Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs.
Tan YC, Blumenfeld J, Rennert H.

Department of Pathology and Laboratory Medicine, Weill Cornell Medical College.

Abstract
Autosomal dominant polycystic kidney disease (ADPKD) is a common, monogenic multi-systemic disorder characterized by the development of renal cysts and various extra-renal manifestations. Worldwide, it is a common cause of end-stage renal disease. ADPKD is caused by mutation in either one of two principal genes, PKD1 and PKD2, but has large phenotypic variability among affected individuals, attributable to PKD genic and allelic variability and, possibly, modifier gene effects. Recent studies have generated considerable information regarding the genetic basis and molecular diagnosis of this disease, its pathogenesis, and potential strategies for targeted treatment. The purpose of this article is to provide a comprehensive review of the genetics of ADPKD, including mechanisms responsible for disease development, the role of gene variations and mutations in disease presentation, and the putative role of microRNAs in ADPKD etiology. The emerging and important role of genetic testing and the advent of novel molecular diagnostic applications also are reviewed.

Copyright © 2010. Published by Elsevier B.V.
PMID: 21392578 [PubMed - as supplied by publisher]

Autosomal dominant polycystic kidney disease: gene... [Biochim Biophys Acta. 2011] - PubMed result