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Primary Oxalosis: A case report.
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HOME > J Pathol Transl Med > Volume 27(5); 1993 > Article
Case Report Primary Oxalosis: A case report.
Sang Yong Song, Je G Chi, Yong Choi, Sang Jun Kim
Journal of Pathology and Translational Medicine 1993;27(5):509-513
DOI: https://doi.org/
1Department of Pathology, Seoul National University College of Medicine, Seoul, Korea.
2Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
3Department of Surgery, Seoul National University College of Medicine, Seoul, Korea.
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Primary oxalosis is a rare genetic disorder caused by a deficiency of the peroxisomal enzyme alanine-glyoxylate aminotransferase(type I) and D-glyceric dehydrogenase(type II). It is characterized by the triad of radiopaque urolithiasis, nephrocalcinosis, and latered renal function. We report a case of primary oxalosis in a 10-year-old Korean girl. She presented with chronic renal failure at 9 years of age. Ultrasonographic examination revealed bilateral, multiple renal and ureteral stones. Removed stones were chemically analysed to be composed of calcium oxalate. She underwent renal transplantation after prolonged period of dialysis. Removed kidneys were firm and gritty. Cut sections showed numerous tiny yellow sandy stones and a large staghorn stone. Specimen X-ray also exhibited disseminated fine granular and often coalescent radiopaque materials throughout the cortex and medulla. Microscopically numerous varying-sized crystals were noted in the kidney in globular or rhomboid appearance. The crystals were semitranslucent and doubly refractile under the polarized light. Diffuse interstitial fibrosis and chronic inflammation as well as glomerular obsolescence were also noted. The oxalate deposit was diffuse and marked, and was thought to be intimately related to the parenchymal damage and fibrosis.


J Pathol Transl Med : Journal of Pathology and Translational Medicine