Nephrol Dial Transplant Vol. 19 No. 11 © ERA-EDTA 2004; all rights reserved
Editorial Review
Cystic kidney diseases: learning from animal models
Unit of Gene Expression and Disease/CNRS URA 1644, Department of Developmental Biology, Pasteur Institute, Paris, France
Correspondence and offprint requests to: Evelyne Fischer, Pasteur Institute, 25, rue du Docteur Roux, 75724 Paris Cedex 15, France. Email: efischer@pasteur.fr
Keywords: kidney cysts; murine model; polycystic kidney disease; transcription factor
| The first 150 words of the full text of this article appear below. |
Introduction
Renal tubular cysts arise in several inherited human disorders which include autosomal dominant polycystic kidney disease (ADPKD), as well as rarer disorders such as autosomal recessive polycystic kidney disease (ARPKD) nephronophthisis and medullary cystic kidney. Despite their genetic, clinical and histopathological heterogeneity, all these diseases involve a dilation of tubules leading to cyst formation. This suggests that the gene defects underlying these cystic disorders might disrupt common molecular pathways.
Numerous mouse and rat polycystic kidney disease (PKD) models have been described over the last few years. Some of these models are the result of spontaneous mutations; others were generated through random mutagenesis or gene targeting of mouse PKD orthologue genes. Despite not strictly reproducing the human disease, these animals models have provided new insights into the mechanisms underlying cyst formation.
Rodent models of cystic diseases: not strict phenocopies of human diseases
Most of the spontaneous rat and mouse cystic disease models are transmitted as autosomal recessive, monogenic disorders. With respect to
Identification of new genes
Phenotypic variability
Primary cilia and cystogenesis
Transcriptional defects and cystogenesis
Conclusion