Infantile Primary Hyperoxaluria Type 1 Treated With Lumasiran in Twin Males
Khaled Aldabek1, Oulimata K Grossman2, Osama Al-Omar1
1Urology/Pediatric Urology, WVU Medicine Children's Hospital/West Virginia University School of Medicine, Morgantown, USA.
Insights
Primary hyperoxaluria type 1 (PH1), a rare genetic disorder, can be treated with lumasiran. This case study shows lumasiran effectively managed infantile PH1 in twins, halting disease progression.
Area of Science:
- Genetics
- Pharmacology
- Nephrology
Background:
- Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder causing severe oxalate overproduction.
- Infantile PH1 presents with nephrolithiasis, nephrocalcinosis, kidney failure, and systemic oxalosis, often requiring intensive treatment like liver-kidney transplantation.
- Lumasiran, an RNA interference therapeutic, targets hepatic oxalate production and is approved for PH1 treatment.
Observation:
- This report details twin males diagnosed with infantile PH1, bilateral nephrolithiasis, and nephrocalcinosis.
- The twins received lumasiran treatment at 12 months of age.
- This marks the first reported case of PH1 in twins and the initial use of lumasiran for infantile PH1 outside clinical trials.
Findings:
- Lumasiran treatment led to the abatement of symptoms in the affected twins.
- No disease progression was observed following the initiation of lumasiran therapy.
- The case suggests lumasiran is a successful therapeutic option for infantile PH1.
Implications:
- This case study provides real-world evidence for lumasiran's efficacy in infantile PH1.
- The findings support lumasiran as a valuable treatment option for this severe genetic condition.
- Further research may explore lumasiran's long-term outcomes in infantile PH1 patients.
Abstract:
Primary hyperoxaluria type 1 (PH1) is a rare genetic disease that results in oxalate overproduction leading to nephrolithiasis (NL), nephrocalcinosis (NC), kidney failure, and systemic oxalosis. Infantile PH1 is its most severe form, and it may require intensive hemodialysis followed by a liver-kidney transplant. Lumasiran is an RNA interference (RNAi) therapeutic agent that reduces hepatic oxalate production, which has been recently approved for the treatment of PH1. In this report, we present a case of twin males with infantile PH1 and bilateral NL and NC who were treated with lumasiran at 12 months of age. Their symptoms abated after therapy was started without disease progression. To the best of our knowledge, this is the first report of PH1 occurring in twins and the first report on using lumasiran to treat infantile PH1 outside of a clinical trial. Lumasiran appears to be a successful therapeutic option for infantile PH1.
