Jaap Groothoff, MD of the University of Amsterdam discusses his research on primary hyperoxaluria type 1 (PH1).
PH1 is an ultra-rare, inherited disorder in which the body produces excess amounts of oxalate, which is normally filtered through the kidneys and excreted in the urine. In PH1 patients, the accumulated oxalate combines with calcium in the kidneys and urinary tract to create calcium oxalate crystals. This can lead to kidney and bladder stones, nephrocalcinosis, and renal damage.
The condition is exacerbated by the compromised renal function as excess oxalate cannot be properly excreted, leading to further accumulation of calcium oxalate in bones, eyes, skin, and heart.
Diagnosis of PH1 often occurs when the following symptoms accompany a kidney stone: flank pain, urinary tract infections, painful urination, and bloody urine. However, some patients are not diagnosed until after renal failure when they require dialysis. Renal failure is life-threatening, so early diagnosis is crucial.
To learn more about PH1 and other rare kidney diseases, visit checkrare.com/diseases/kidney