Infantile Primary Hyperoxaluria Type 1 Treated With Lumasiran in Twin Males

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.

Keywords: children; lumasiran; primary hyperoxaliuria; renal stone disease; twin boys.

Figure 1. Biochemical pathway of oxalate production in liver cells and lumasiran's mechanism of action

AGT: alanine-glyoxylate aminotransferase; LDH: lactate dehydrogenase; GO: glycolate oxidase