Events - Grand Rounds in Pediatric Nephrology – an ISN-IPNA Sister Centers initiative: Diagnosis and Treatment of Hyperoxaluria Type 1: Old and New

A child presented with a history of multiple kidney stones and end-stage kidney disease. Diagnostic evaluation demonstrated hyperoxaluria type 1. We will review the different clinical scenarios when one should suspect hyperoxaluria type 1 and how to make the diagnosis. Finally, we will discuss therapeutic options, including pyridoxine, liver transplantation and lumasiran, a recent advance in the treatment of hyperoxaluria type 1. 

Learning objectives: 

• Describe 3 different clinical presentations of hyperoxaluria type 1. 

• Plan the diagnostic strategy for a patient with suspected hyperoxaluria type 1. 

• Explain how lumasiran decreases liver oxalate production in hyperoxaluria type 1. 

Further reading:

Milliner DS, Harris PC, Sas DJ, Cogal AG, Lieske JC. Primary Hyperoxaluria Type 1. 2002 Jun 19 [updated 2022 Feb 10]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 20301460. 

Garrelfs SF, Frishberg Y, Hulton SA, Koren MJ, O’Riordan WD, Cochat P, Deschênes G, Shasha-Lavsky H, Saland JM, Van’t Hoff WG, Fuster DG, Magen D, Moochhala SH, Schalk G, Simkova E, Groothoff JW, Sas DJ, Meliambro KA, Lu J, Sweetser MT, Garg PP, Vaishnaw AK, Gansner JM, McGregor TL, Lieske JC; ILLUMINATE-A Collaborators. Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1. N Engl J Med. 2021 Apr 1;384(13):1216-1226. doi: 10.1056/NEJMoa2021712. PMID: 33789010. 

Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, Beck BB, Boyer O, Cerkauskiene R, Ferraro PM, Groen LA, Gupta A, Knebelmann B, Mandrile G, Moochhala SS, Prytula A, Putnik J, Rumsby G, Soliman NA, Somani B, Bacchetta J. Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope. Nat Rev Nephrol. 2023 Mar;19(3):194-211. doi: 10.1038/s41581-022-00661-1. Epub 2023 Jan 5. PMID: 36604599.