Primary hyperoxaluria Type I (PH1) is an autosomal recessive disease caused by the functional defect of hepatic alanine-glyoxylate aminotransferase, which results in overproduction of oxalate. The condition can be especially devastating for the kidneys, leading to end-stage renal disease (ESRD) during the first two to three decades of life in most patients. Currently, while the conservative treatment options are limited, they often prove inefficient in preventing ESRD. Consequently, many PH1 patients require kidney transplantation, and liver transplantation as well, which is currently the only definitive treatment option for counteracting the hepatic metabolic defect. Nevertheless, a therapeutic revolution is underway. Indeed, innovative drugs are currently being tested in clinical trials, and some preliminary data reveal their impressive efficacy in reduce hepatic oxalate overproduction. This paper reviews the current knowledge on this subject.
What is already known about the topic?
Primary hyperoxaluria Type 1 is a rare disease, which can be devastating for the kidneys. Current treatment options are limited and comprise liver transplantation designed to cure the metabolic defect. However, the latter intervention is associated with non-negligible morbidity and mortality.
What does this article bring up for us?
Innovative drugs are currently being tested in clinical trials, and preliminary data reveal their impressive efficacy in reducing hepatic oxalate overproduction, which renders liver transplantation obsolete. This paper reviews the current knowledge on this subject.
Key Words
Primary hyperoxaluria Type 1, kidney transplantation, RNA interference drugs