Content sponsored by Alnylam Pharmaceuticals, Inc.
Primary hyperoxaluria (PH) is an autosomal recessive disorder caused by a mutation in one of three liver enzymes resulting in overproduction of oxalate by hepatocytes. PH type 1, or PH1, results from a mutation in the gene AGXT and is overall the most common and severe of the three types of PH. It is critical to consider the diagnosis of PH in any patient presenting with early onset of kidney stones and/or nephrocalcinosis, multiple or recurrent large stones, reduced kidney function or end-stage kidney disease (ESKD) in the setting of kidney stones or nephrocalcinosis. Delays in diagnosis can lead to chronic kidney disease, ESKD, and systemic oxalosis (deposits of oxalate in other tissues in addition to the kidney, such as heart, eyes, bones, and skin). PH may be diagnosed by measuring 24-hour urine oxalate excretion as well as testing random urine oxalate and metabolites (glycolate, glycerate or HOG) in non-toilet trained children. In PH1, urine glycolate is often elevated, but in some cases, only urine oxalate is elevated. Genetic testing is important to help confirm the diagnosis of PH, mitigate the deleterious effects of oxalate accumulation, and initiate appropriate therapy.
Watch this symposium to learn more about the pathophysiology, clinical manifestations, diagnostic framework, and patient/caregiver burden and perspectives of living with PH.