Pritesh J. Gandhi, PharmD, Former Vice President and General Manager, Lumasiran Program at Alnylam Pharmaceuticals, discusses how patients with primary hyperoxaluria type 1 (PH1) may be diagnosed.
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, PH1 patients are often diagnosed by nephrologists. However, urologists may be able to diagnose patients before they see a nephrologist. Dr. Gandhi notes that clinicians should perform genetic tests for PH1 if their patient is either a child with any kidney stone event or an adult who has frequent kidney stones as well as a family history of frequent kidney stones.
To learn more about PH1 and other rare kidney diseases, visit checkrare.com/diseases/kidney
