AUTHOR=Cordido Adrián , Besada-Cerecedo Lara , García-González Miguel A. 

TITLE=The Genetic and Cellular Basis of Autosomal Dominant Polycystic Kidney Disease—A Primer for Clinicians

JOURNAL=Frontiers in Pediatrics

VOLUME=5

YEAR=2017

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2017.00279

DOI=10.3389/fped.2017.00279

ISSN=2296-2360

ABSTRACT=<p>Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders worldwide. In recent decades, the field has undergone a revolution, starting with the identification of causal ADPKD genes, including <italic>PKD1, PKD2</italic>, and the recently identified <italic>GANAB</italic>. In addition, advances defining the genetic mechanisms, protein localization and function, and the identification of numerous pathways involved in the disease process, have contributed to a better understanding of this illness. Together, this has led to a better prognosis, diagnosis, and treatment in clinical practice. In this mini review, we summarize and discuss new insights about the molecular mechanisms underlying ADPKD, including its genetics, protein function, and cellular pathways.</p>