End-stage Renal Disease Caused by Primary Hyperoxaluria.
- Author:
Han Kyu LEE
1
;
O Kyong KWON
;
Ki Ryang NA
;
Kwang Sun SUH
;
Sook Za KIM
;
Kang Wook LEE
;
Young Tai SHIN
Author Information
1. Department of Internal Medicine, College of Medicine, Chungnam National University, Daejeon, Korea. ytshin@cnu.ac.kr
- Publication Type:Case Report
- Keywords:
Oxalate;
Primary hyperoxaluria;
Chronic renal failure;
Nephrolithiasis
- MeSH:
Biopsy;
Calcium;
Calcium Oxalate;
Child;
Creatinine;
Humans;
Hyperoxaluria;
Hyperoxaluria, Primary*;
Kidney Failure, Chronic*;
Male;
Metabolic Diseases;
Nephrolithiasis;
Oxalic Acid;
Phenotype;
Renal Dialysis;
Renal Insufficiency;
Urolithiasis
- From:Korean Journal of Nephrology
2005;24(6):981-985
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Primary hyperoxaluria is a rare autosomal recessive inherited metabolic disease which results from endogenous overproduction of oxalic acid. It causes variant phenotypes from renal failure in infancy to mere urolithiasis in late adulthood. We report a case of primary hyperoxaluria in a 11-year-old boy. He presented with recurrent multiple renal stones since 3 years of age. He had renal failure and markedly increased hyperoxaluria (568.26 microgram/mg of creatinine (normal: 0.04-0.15)) and his stones consisted of a mixture of calcium oxalate (30%) and calcium phosphate (10%) in contrast to pure calcium oxalate monohydrate in the other primary hyperoxaluria type 1 patients. A renal biopsy showed interstitial cellular infiltration with crystals which are birefringent under polarized light within the tubules. His general conditions were improved after hemodialysis treatment. For definite cure of disease, combined liver-kidney transplantation is considered.
