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- Title
Nephrocalcinosis can disappear in infants receiving early lumasiran therapy.
- Authors
Kayal, Dima; Sellier-Leclerc, Anne-Laure; Acquaviva-Bourdain, Cécile; de Mul, Aurélie; Cabet, Sarah; Bacchetta, Justine
- Abstract
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.
- Subjects
RARE diseases; OXALIC acid; TREATMENT effectiveness; RNA; PYELONEPHRITIS; KIDNEY calcification; KIDNEY diseases; GENETIC testing; CHILDREN
- Publication
Pediatric Nephrology, 2024, Vol 39, Issue 7, p2079
- ISSN
0931-041X
- Publication type
Article
- DOI
10.1007/s00467-023-06268-3