Tracy McGregor, MD, Senior Director of Clinical Research at Alnylam Pharmaceuticals, discusses what she feels physicians should know about primary hyperoxaluria type 1 (PH1).
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. McGregor explains, depending on one’s presentation of PH1, an individual may struggle to get diagnosed quickly. For example, a child being hospitalized with a kidney stone will likely receive a diagnosis quickly since kidney stones are extremely uncommon for children. However a young adult may not be diagnosed until their third or fourth kidney stone and an older adult may only be diagnosed after oxalosis destroys a kidney transplant. Dr. McGregor urges physicians who see frequent kidney stones or kidney failure to seek out the root cause of these events, especially if there is evidence of oxalate build-up in the kidneys.
To learn more about PH1 and other rare kidney diseases, visit checkrare.com/diseases/kidney
