Genetics of Primary Hyperoxaluria

Abstract

Primary hyperoxaluria (PH) is a rare inborn error of metabolism characterized by increased production of oxalate and glycolate [1]. Urinary excretion of oxalate always exceeds 100 mg (1.1 mmol), and usually 200 mg (2.2 mmol) per day, as compared to less than 45 mg (0.5 mmol) in normals [1]. Elevated urinary excretion of oxalate not only leads to formation of calcium oxalate stones and to repeated attacks of renal colics, but also results in crystal deposition in the renal interstitium, which induces fibrosis and nephrocalcinosis. Rena Show more