Related Experiment Video
Updated: Jul 5, 2025
Author Spotlight: Developing a Bedside Protocol for Kidney and Genitourinary Ultrasonography
Published on: June 21, 2024
Nephrocalcinosis can disappear in infants receiving early lumasiran therapy
Dima Kayal1, Anne-Laure Sellier-Leclerc2, Cécile Acquaviva-Bourdain3
1Service de Néphrologie, Rhumatologie et Dermatologie Pédiatriques, Centre de Référence des Maladies Rénales Rares Néphrogones, Filières Maladies Rares ORKID et ERK-Net, CHU de Lyon, Bron, France. dima-kayal@hotmail.com.
Insights
Early lumasiran therapy, a novel RNA interference (RNAi) treatment for primary hyperoxaluria type 1 (PH1), rapidly improved and resolved nephrocalcinosis in infants. Prompt treatment initiation, even before genetic confirmation, shows promising long-term outcomes.
Area of Science:
- Nephrology
- Genetics
- Pharmacology
Background:
- Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder.
- Nephrocalcinosis is a common complication of PH1, leading to kidney damage.
- Lumasiran is the first RNA interference (RNAi) therapy approved for PH1.
Background:
Lumasiran is the first RNA interference (RNAi) therapy of primary hyperoxaluria type 1 (PH1). Here, we report on the rapid improvement and even disappearance of nephrocalcinosis after early lumasiran therapy.
Case-Diagnosis/Treatment:
In patient 1, PH1 was suspected due to incidental discovery of nephrocalcinosis stage 3 in a 4-month-old boy. Bilateral nephrocalcinosis stage 3 was diagnosed in patient 2 at 22 months concomitantly to acute pyelonephritis. Urinary oxalate (UOx) and glycolate (UGly) were increased in both patients allowing to start lumasiran therapy before genetic confirmation. Nephrocalcinosis started to improve and disappeared after 27 months and 1 year of treatment in patients 1 and 2, respectively.
Conclusion:
These cases illustrate the efficacy of early lumasiran therapy in infants to improve and even normalize nephrocalcinosis. As proposed in the 2023 European guidelines, the interest of starting treatment quickly without waiting for genetic confirmation may have an impact on long-term outcomes.
More Related Videos
08:505/6th Nephrectomy in Combination with High Salt Diet and Nitric Oxide Synthase Inhibition to Induce Chronic Kidney Disease in the Lewis Rat
Published on: July 3, 2013
09:43Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
Published on: June 8, 2022
Related Concept Videos
01:20Renal Corpuscle
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
01:17Factors Affecting Renal Clearance: Renal Impairment
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...