Year: 2014
Type: review
Abstract: Recent advances in defining the genetic mechanisms of disease causation and modification in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some extreme disease manifestations and other phenotypic variability. Studies of the ADPKD proteins, polycystin-1 and -2, and the development and characterization of animal models that better mimic the human disease, have also helped us to understand pathogenesis and facilitated treatment evaluation. In addition, an improved understanding of aberrant downstream pathways in ADPKD, such as proliferation/secretion-related signaling, energy metabolism, and activated macrophages, in which cAMP and calcium changes may play a role, is leading to the identification of therapeutic targets. Finally, results from recent and ongoing preclinical and clinical trials are greatly improving the prospects for available, effective ADPKD treatments.
DOI: 10.1172/jci72272
Authors: Peter C. Harris, Vicente E. Torres
Institution: Mayo Clinic
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Awards: G3025095047, G3411968480, Novel treatment for polycystic kidney disease, G544931988, G6197844873, Novel treatment for polycystic kidney disease, Mayo Translational PKD Center (MTPC), ADPKD: Disease Spectrum & Genotype-Phenotype Correlations, Investigation of common disease mechanisms in nonsyndromic and syndromic PKD
OpenAlex ID: W2053062434