[Interferent RNA treatment: Example of primary hyperoxaluria].

Abstract

Primary hyperoxalurias are rare disease with autosomal recessive inheritance; they often lead to kidney failure and can lead to life-threatening conditions, especially in early onset forms. There are three types, responding to distinct enzyme deficits. Type 1 represents 85% of cases and results from an enzyme deficiency (alanine-glyoxylate aminotransferase) in the peroxisomes of the liver, causing hyperoxaluria leading to urolithiasis with or without nephrocalcinosis. As glomerular filtration decreases, a systemic overload appears and spares no organ. Treatment has hitherto been based on combined liver and kidney transplantation, with significant mortality and morbidity. The recent introduction of interfering RNA treatments opens up new perspectives. By blocking an enzymatic synthesis (glycolate oxidase or lacticodehydrogenase a) upstream of the deficit that causes the disease, oxaluria normalizes and the tolerance of the drug (administered by injection every 1 to 3 months) is good. This strategy will help prevent kidney failure in patients treated early and avoid liver transplantation in those who are diagnosed at an advanced stage of kidney failure.

• Authors: Pierre Cochat, Anne-Laure Sellier-Leclerc, Aurélia Bertholet-Thomas, Justine Bacchetta
• Journal: Nephrologie & therapeutique (Nephrol Ther) Vol. 17S Pg. S23-S26 (Apr 2021) ISSN: 1872-9177 [Electronic] France
• Vernacular Title: Traitement par ARN interférent : exemple de l’hyperoxalurie primitive.
• PMID: 33910694 (Publication Type: Journal Article)
• Copyright: Copyright © 2020 Société francophone de néphrologie, dialyse et transplantation. Published by Elsevier Masson SAS. All rights reserved.

Chemical References

• RNA

Topics

• Humans
• Hyperoxaluria (genetics, therapy)
• Hyperoxaluria, Primary (genetics, therapy)
• Kidney Transplantation
• Liver Transplantation
• RNA