Autosomal dominant polycystic kidney disease: genetics, mutations and microRNAs. Review uri icon

Overview

abstract

  • Autosomal dominant polycystic kidney disease (ADPKD) is a common, monogenic multi-systemic disorder characterized by the development of renal cysts and various extrarenal 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. This article is part of a Special Issue entitled: Polycystic Kidney Disease.

publication date

  • March 17, 2011

Research

keywords

  • Polycystic Kidney, Autosomal Dominant

Identity

Scopus Document Identifier

  • 80052263337

Digital Object Identifier (DOI)

  • 10.1016/j.bbadis.2011.03.002

PubMed ID

  • 21392578

Additional Document Info

volume

  • 1812

issue

  • 10