Isolated kidney transplantation under lumasiran therapy in primary hyperoxaluria type 1: a report of five cases
Anne‐Laure Sellier‐Leclerc, Elisabeth L. Metry, Stéphanie Clave, Peggy Perrin, Cécile Acquaviva, C. Levi, Meindert J. Crop, Sophie Caillard, Bruno Moulin, Jaap W. Groothoff, Justine Bacchetta
Abstract
Primary hyperoxaluria type 1 (PH1) is caused by a mutation in the AGXT gene, encoding the hepatic peroxisomal enzyme alanine-glyoxylate aminotransferase (AGT). Defects in AGT increase glyoxylate and oxalate production, the latter inducing kidney stones and nephrocalcinosis [1, 2]. Symptoms vary from recurrent bilateral kidney stones with moderate chronic kidney disease (CKD) to early kidney failure in infancy [1, 3, 4]. Until recently, the treatment of PH1 was only symptomatic [2], consisting of standard of care (SOC) with intensive hyperhydration, urine alkalinization and conservative CKD management, with the use of pyridoxine in patients with peculiar mutations [5]. Among patients who reach kidney failure, intensive hemodialysis should be performed; however, systemic oxalosis worsens despite intensive dialysis, and bone is the main compartment for oxalate storage. Combined or sequential double liver/kidney transplantation (CLKT) has been traditionally recommended, as kidney transplant (KTx) alone leads to graft loss due to oxalate deposits, except in B6-sensitive forms [6–8]. With such challenging technical procedures and long-term complications of immunosuppressive therapies, patients’ quality of life (QoL) and survival may be significantly impaired [6].