原発性過蓚酸尿症

Abstract

A case of primary hyperoxaluria with calcium oxalate nephrolithiasis was presented.The patient, 24 years old male, was quite well until the age of 15 when he was diagnosed as having left renal stones with symptoms of colic pain and hematuria. At the age of 19, he was operated for pyelolithotomy under the diagnosis of right renal stones. Following this operation he passed multiple stones during 5 years. Finally he came to our clinic and was diagnosed as having left multiple renal stones and right nephrocalcinosis.The removed staghorn calculi from the left kidney by nephrolithotomy in March, 18th. 1977 was analysed as pure calcium oxalate monohydrate by infrared spectrophotomater. The histological examination of the biopsy specimen demonstrated multiple deposits of crystalline material in the renal tubules under the polarizing microscope.From these results the abnormal oxalate metabolism was suspected, so that the urinary excretion of oxalic acid was measured. His urinary excretion of oxalic acid was markedly elevated to 140mg/24hrs (167.5mg/gr creatinine), but the excretion was within normal range in his parents and relatives.According to these findings he was prescribed pyridoxal phosphate 180mg/day under the diagnosis of primary hyperoxaluria. However the treatment was not effective. At present he is on hemodialysis because of postoperative progressive renal deterioration.