Primary hyperoxaluria (PH) is a group of ultra-rare genetic disorders characterized by the overproduction of oxalate (an end-product of metabolism) and progressive and irreversible decline in kidney function. There are 3 types of PH: type 1 (PH1), type 2 (PH2), and type 3 (PH3). PH1 is the most common, with a prevalence of 1 to 3 per million in North America and Europe.
PH1 often presents in childhood, though patients can be diagnosed at any age and often experience recurrent oxalate stones in the kidneys and urinary tract with symptoms that include flank pain, painful urination, and blood in the urine. Oxalate-induced toxicity causes irreparable damage to the kidneys, eventually leading to kidney failure and multi-organ dysfunction with severe clinical manifestations involving the eyes, bones, skin, and heart. For patients with advanced disease the only viable treatment option is a dual liver/kidney transplant.
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