Clinical characteristics of Russian children with primary hyperoxaluria. Results of a pilot study of lumasiran therapy of primary hyperoxaluria type 1

Primary hyperoxaluria is a severe autosomal recessive disorder that leads to chronic kidney disease and often necessitates renal replacement therapy in childhood. Some patients with primary hyperoxaluria type 1 respond to pyridoxine therapy, whereas patients with types 2 and 3 receive only citrate therapy. In recent years, a targeted drug – lumasiran – has become available for treating 1 type primary hyperoxaluria. Its mechanism is based on reducing glioxylate production and, consequently, oxalate formation. To date, no published data exist on the efficacy of lumasiran in Russian patients.

Materials: Since 2014, 14 children with primary hyperoxaluria have been followed in the Nephrology Department of the National Research Center for Children’s Health: 12 with 1 type and 2 with type 3. Among the 12 children type 1 patients, 5 received pathogenetic therapy with lumasiran. The duration of treatment ranged from 9 months to 3 years, with a mean 26 months (SD 13 months).

Results: After 12 months of therapy, no patients showed worsening of nephrocalcinosis or decline in kidney function. Four patients achieved marked reduction in urinary oxalate excretion (90%, 88%, 89% and 74%). One child had been on treatment for less than one year.

Conclusions: Early treatment initiation of treatment for primary hyperoxaluria – particularly type 1 – significantly improve not only renal but also overall survival.

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