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
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
Da un articolo di K. Shee and M.L. Stoller prendo spunto per alcune diapo sintetiche sull’interesse per la terapia delle PH1-2-3. 0
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