Lumasiran, Isolated Kidney Transplantation, and Continued Vigilance

Patient 1, a girl with infantile oxalosis, was homozygous for c.731T→C (of unclear predicted pyridoxine sensitivity). She underwent intensive dialysis for 10 months before the initiation of lumasiran treatment, followed by 13 months of intensive dialysis plus lumasiran. At 3 years of age, she underwent isolated kidney transplantation from a deceased donor; the plasma oxalate level at the … Leggi tutto

Perspectives in primary hyperoxaluria — historical, current and future clinical interventions

Primary hyperoxalurias are a devastating family of diseases leading to multisystem oxalate deposition, nephrolithiasis, nephrocalcinosis and end-stage renal disease. Traditional treatment paradigms are limited to conservative management, dialysis and combined transplantation of the kidney and liver, of which the liver is the primary source of oxalate production. However, transplantation is associated with many potential complications, … Leggi tutto