| Theme |
Congenital Kidney Disease and Renal Failure |
| Title |
Primary hyperoxaluria |
| Author |
Hidehiro Tabata |
Department of Medicine, Tokyo Women's Medical University |
| Author |
Kan Kikuchi |
Department of Blood Purification, Tokyo Women's Medical University |
| Author |
Satoshi Teraoka |
Department of Surgery, Kidney Center, Tokyo Women's Medical University |
| Author |
Takashi Akiba |
Department of Blood Purification, Tokyo Women's Medical University |
| [ Summary ] |
Primary hyperoxaluria (PH) is a congenital metabolic disorder which leads to renal insufficiency. PH is classified into two categories, PH1 and PH2. PH2 generally does not cause renal failure. PH1 is an autosomal recessive decease. Because serine: pyruvate/alanine：glyoxylate aminotransferase is not active and oxalic acid concentrations in the blood and urine rise, PH1 leadsto renal insufficiency due to calcium oxalate deposition. We should suspect PH1 may be associated with reccuring urinary calculus and nephrocalcinosis and then check for markedly increased urinary excretion of oxalate. Confirmed diagnosesare made through liver biopsies. PH1 is a very rare disease from which the patient may recover completely through combined liver-kidney transplantation. Therefore, when PH1 is diagnosed, transplantation should be considered. |