Category Archives: Genetics
Hemodialysis.com Author Interview: Dr. Joris I. Rotmans, MD PhD
Department of Nephrology, Leiden University Medical Center,
PO Box 9600, 2300 RC Leiden, The Netherlands
The Einthoven Laboratory
Experimental Vascular Medicine is the workshop of the theme Vascular Medicine
Leiden University Medical Center (LUMC).
Hemodialysis.com: What was the rationale for the study?
Dr. Rotmans: Vascular access dysfunction is currently the Achilles’ heel of hemodialysis therapy. The vast majority of arteriovenous access failure is caused by thrombosis, secondary to disproportionate intimal hyperplasia and impaired outward remodeling of the venous outflow tract. Currently, it is unknown why AVF failure occurs in some individuals but not in others. We investigated whether genetic risk factors might play a role in AVF failure.
Hemodialysis.com: What are the main findings of your study?
Prof. Ferec: Our main result is the first description of the influence of mutation type on renal survival.
We have shown that PKD1 truncating mutations are associated with a median age at ESRD of 55.4 years, whereas there is a 12 years delay in ESRD onset for non-truncating mutations.