Autosomal Dominant Polycystic Kidney Disease Somatic Mutation Biorepository
Hanna Rennert, PhD, FACMG
Stephanie Donahue, NP
Brief Summary of Protocol
This study will analyze the germline and somatic PKD gene mutations underlying the development of ADPKD, and characterize the association between these mutations to better understand the genetic mechanism responsible for the cystic transformation. Once identified, these mutations could help us understand better the mechanism leading to the development of this disease and may explain at least in part the phenotypic variability in disease presentation.
This study is examining the genetic changes associated with the development of ADPKD using native kidneys removed from patients undergoing native nephrectomy at the time of living donor kidney transplantation. No therapeutic intervention is included in the protocol. ADPKD is caused by germline (primary) mutations in one of two PKD genes; however, there are very few published reports of the somatic (secondary) PKD gene mutations in kidneys of patients with ADPKD and how they correlate with the clinical phenotype.
Weill Cornell Medical College
IRB Protocol # 1710018665
Weill Cornell Medical College IRB
1300 York Avenue, Box 89
New York, NY 10065