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

Diagnostic policies on nephrolithiasis/nephrocalcinosis of possible genetic origin by Italian nephrologists: a survey by the Italian Society of Nephrology with an emphasis on primary hyperoxaluria

Primary hyperoxaluria is a genetic disorder of the metabolism of glyoxylate, the precursor of oxalate. It is characterized by high endogenous production and excessive urinary excretion of oxalate, resulting in the development of calcium oxalate nephrolithiasis, nephrocalcinosis, and, in severe cases, end-stage kidney disease and systemic oxalosis. Three diferent forms of primary hyperoxaluria are currently … 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