Affiliations: Department of Pediatric and Adolescent Medicine,
Division of Pediatric Nephrology, University Hospital Cologne, Cologne,
Germany | Institute of Human Genetics, University of Cologne,
Cologne, Germany | Division of Pediatric Nephrology, Department of
Pediatrics, University Hospital Bonn, Bonn, Germany
Note: [] Corresponding author: Bernd Hoppe, Division of Pediatric
Nephrology, Department of Pediatrics, University Hospital Bonn, Adenauerallee
119, 53113 Bonn, Germany. Tel.: +49 228 2873 3259; Fax: +49 228 2873 3444;
E-mail: bernd.hoppe@ukb.uni-bonn.de
Abstract: The primary hyperoxalurias (PH) types I, II and III are autosomal
recessive inherited defects of the glyoxylate metabolism leading to endogenous
oxalate overproduction and hence strongly elevated urinary oxalate excretion
(> 1 mmol/1.73 m^2 body surface area per day; normal <
0.5). Main primary symptoms of PH are recurrent urolithiasis and/or progressive
nephrocalcinosis. This and chronic inflammatory processes often lead to early
renal failure, at least in PH type I, and consequently to systemic deposition
of calcium oxalate crystals, which makes it often a lethal multisystemic
disease. Diagnosis is often missed or delayed until end-stage renal disease
(ESRD) or even after isolated kidney transplantation has failed due to
recurrent oxalosis. Even in the patient with early diagnosis, treatment options
are scarce with high fluid intake and measures to increase urine solubility,
e.g., alkaline citrate. In addition, pyridoxine treatment in PH I may reduce
oxalate excretion in about a third of patients. In ESRD time on dialysis should
be short to avoid overt systemic oxalosis. Transplantation methods are
differing depending on the type of PH and the individual patients' course, but
combined liver and kidney transplantation is the method of choice in PH I,
whereas isolated kidney transplantation is performed in PH II. No patient with
PH III has yet been reported to develop ESRD.
