Swiss Researchers Show That Hospitals Can Use Precision Medicine to Improve Effectiveness of Peritoneal Dialysis

Almost one-third of patients using peritoneal dialysis have a genetic variant that affects the effectiveness of treatment, University of Zurich study shows

Researchers from the University of Zurich have found that a genetic variation present in about 30% of the population can affect how effective peritoneal dialysis is for these patients. Hospital leaders should be aware that this new precision medicine-based discovery will allow them to provide safer, more effective care for their dialysis patients.

Peritoneal dialysis is an important treatment for patients with severe kidney disease, allowing them a more independent lifestyle than would be possible with the more complex hemodialysis. The use of peritoneal dialysis, however, has typically been applied the same to most patients without using precision medicine for dialysis, which would take into account how their unique genetic makeup influences the effectiveness of treatments.

University of Zurich researcher Olivier Devuyst, MD, PhD, discussed new findings of studies in precision medicine dialysis for chronic kidney disease.
“The identification of this common genetic factor regulating the expression of Aquaporin-1, which is associated with a higher risk of death and technique failure, provides a big step for precision medicine in dialysis,” said AQP1 study coordinator and co-author Olivier Devuyst, MD, PhD (above), of the University of Zurich. (Photo: University of Zurich)

New research published in the New England Journal of Medicine, titled, “AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis,” has found that the effectiveness of peritoneal dialysis is actually significantly impacted by a patient’s unique genetics.

Certain Variations in Genes Impact Effectiveness of Dialysis

The University of Zurich researchers focused their studies on genes affecting a protein called Aquaporin-1 that helps to filter water waste during peritoneal dialysis. The study found that variations in the gene responsible for Aquaporin-1, called AQP1, significantly impacted how effectively peritoneal dialysis worked.

The research found that variations in AQP1 carried a 70% increase in the risk of death or the need to transfer to hemodialysis, the more complex and risky form of dialysis. Stated study coordinator and co-author Olivier Devuyst, MD, PhD, as part of a University of Zurich news release, “the gene variant is driving the outcome of peritoneal dialysis and the choice of treatment modalities, which is very important for the care and outcome of patients with kidney failure.”

Researchers also found that variations in AQP1 affect a significant number of peritoneal dialysis patients, making their findings very important for dialysis patients. “Our research shows that relatively common genetic variants—the AQP1 variant is detected in about 30% of the population—may affect fundamental processes, but are only exposed in special circumstances like dialysis,” Devuyst noted.

While there are profound implications to the finding that commonly used peritoneal dialysis techniques could be ineffective and increase the risk of death in almost a third of these patients, researchers also offered a relatively simple solution using existing treatment options. “It is possible to overcome the genetic defect by using specific osmotic solutions that attract water independently of aquaporins—so-called colloid osmotic agents—instead of glucose,” Devuyst explained.

Precision Medicine in Nephrology a Growing Field

Devuyst’s team’s findings come at a time when precision medicine in the field of nephrology is growing. In “UPenn Researchers Identify Genes Responsible for Kidney Function and Related Hypertension,” Precision Medicine Institute reported on research conducted by University of Pennsylvania physicians that shows personalized treatment for chronic kidney disease using existing medicines is possible.

The UPenn study “provides one of the clearest pictures to date of the genetic underpinnings of chronic kidney disease,” Perelman School of Medicine Professor Katalin Susztak, MD, PhD, said in a Penn Medicine news release. “It paves the way for the identification of potential treatments, which are critically needed.”

The evolving precision medicine research addressing the treatment of chronic kidney disease allows hospital administrators and nephrology group leaders the opportunity to provide individualized renal treatments. By tailoring peritoneal dialysis and chronic kidney disease treatments to the individual needs of each patient, hospitals will be better able to improve the outcomes of these patients.

—Caleb Williams

Related Information:

AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal Dialysis

Towards Precision Medicine for Dialysis Patients

Unraveling the Complex Genetics of Common Kidney Diseases: from Variants to Mechanisms

Penn Researchers Unlock Genetic ‘Treasure Map’ for Chronic Kidney Disease

UPenn Researchers Identify Genes Responsible for Kidney Function and Related Hypertension

Olivier Devuyst, Prof. MD

Katalin Susztak, MD, PhD