摘要
Primary hyperoxaluria (PH) is a rare autosoma recessive disorder of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Because oxalate is excreted exclusively by the kidney, hyperoxaluria leads to calcium oxalate nephrolithiasis, nephrocalcinosis, and renal failure. PH are considered rare with a prevalence of 0.1-0.2 per 106 population.2 PH was misdiagnosed in some cases initially and unfortunately a case may not be detected until the post-transplant period by allograft biopsy.
Primary hyperoxaluria (PH) is a rare autosoma recessive disorder of glyoxylate metabolism in which specific hepatic enzyme deficiencies result in overproduction of oxalate. Because oxalate is excreted exclusively by the kidney, hyperoxaluria leads to calcium oxalate nephrolithiasis, nephrocalcinosis, and renal failure. PH are considered rare with a prevalence of 0.1-0.2 per 106 population.2 PH was misdiagnosed in some cases initially and unfortunately a case may not be detected until the post-transplant period by allograft biopsy.