The primary hyperoxalurias.
The primary hyperoxalurias (PHs) are rare disorders of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Due to the resulting severe hyperoxaluria, recurrent urolithiasis or progressive nephrocalcinosis are principal manifestations. End stage renal failure frequently occurs and is followed by systemic oxalate deposition along with its devastating effects. Due to the lack of familiarity with PHs and their heterogeneous clinical expressions, the diagnosis is often delayed until there is advanced disease. In recent years, improvements in medical management have been associated with better patient outcomes. Although there are several therapeutic options that can help prevent early kidney failure, the only curative treatment to date is combined liver-kidney transplantation in patients with type I PH. Promising areas of investigation are being identified. Knowledge of the spectrum of disease expression, early diagnosis, and initiation of treatment before renal failure are essential to realize a benefit for patients.
Hoppe
Bernd
B
Division of Pediatric Nephrology, Department of Pediatrics, University Hospital, Cologne, Germany. Electronic address: bernd.hoppe@uk-koeln.de.
Beck
Bodo B
BB
Division of Pediatric Nephrology, Department of Pediatrics, University Hospital, Cologne, Germany.
Milliner
Dawn S
DS
Division of Nephrology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota, USA; Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota, USA.
D000429:Alcohol Oxidoreductases / Q000172:deficiency / Q000235:genetics; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D007676:Kidney Failure, Chronic / Q000517:prevention & control; D016030:Kidney Transplantation; D009154:Mutation; D011736:Pyridoxine / Q000627:therapeutic use; D017582:Renal Replacement Therapy; D000637:Transaminases / Q000172:deficiency / Q000235:genetics
D000429:Alcohol Oxidoreductases; C020830:glyoxylate reductase; D000637:Transaminases; C019635:Alanine-glyoxylate transaminase; D011736:Pyridoxine