Pritesh J. Gandhi, PharmD, Former Vice President and General Manager, Lumasiran Program at Alnylam Pharmaceuticals, discusses how the severity of primary hyperoxaluria type 1 (PH1) impacts hospital visits.

PH1 is a rare genetic disease in which excessive oxalate production leads to painful and recurrent kidney stones. These recurrent stones increase the chance of hematuria, urinary tract infections, and end stage renal disease. 

As Dr. Gandhi explains, some patients with PH1 come in frequently with kidney stones, are treated, and then discharged. Other patients, however, come in undiagnosed with renal insufficiency and genetic testing will likely determine the diagnosis. If the patient has acute renal failure, regular dialysis will be required. Other patients still may have systemic oxalosis which can lead to oxalate build-up in the heart, bones, and eyes. These patients must be closely monitored and require intensive care. 

To learn more about PH1 and other rare kidney diseases, visit checkrare.com/diseases/kidney