The primary hyperoxalurias are rare autosomal-recessive inborn errors of metabolism. The error in glyoxylate metabolism is due to a specific hepatic enzyme deficiencies resulting in overproduction of oxalate. As a results, uncontrolled levels of oxalate result in calcium oxalate deposition in multiple organs.
Patients present with recurrent nephrolithiasis and nephrocalcinosis. Because it affects many extrarenal organs, it may cause cardiac conduction block, peripheral neuropathy,(schemia, gangrene, and disseminated intravascular coagulation, and crippling oxalate osteopathy.
Oral pyridoxine therapy, effective in about 1/3. Renal transplant is often used, but 30-80% fail witin 3 yeras (Leumann).
End stage renal failure often develops, and dialysis usually cannot keep up with excretion.
Leumann E., Hoppe B.: The primary hyperoxalurias. J Am Soc Nephrol 12. 1986-1993.2001