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本文报告一种少见的家族性高尿酸血症和肾脏病,其与痛风性肾病相比,后者的肾脏受累发生较迟,早期罕见有肾功能损害,而本病则家族中某些人员,相对地较早发生肾脏病。作者对一个家系41个血统相关人员中的31人作了肾功能试验和血尿酸测定,并用放射化学法测定红细胞嘌呤酶,部分还作了肾活检。结果有19例无肾脏病或尿酸代谢异常,3例血尿酸增高而肾功能正常,1例有肾结石(未定型),但肾功能正常,且也无高尿酸血症,9例有肾脏病。
This article reports a rare familial hyperuricemia and nephrotic syndrome that is associated with a later onset of renal involvement compared with gouty kidney disease and rare renal impairment in the early stages of the disease. However, some members of the family, Relatively early kidney disease. The authors conducted a renal function test and a serum uric acid test on 31 of 41 blood-related persons in a pedigree. Radiochemical assays of erythrocytes purine were performed, and in part, a kidney biopsy was performed. Results There were 19 cases of no renal disease or abnormal uric acid metabolism, 3 cases of elevated serum uric acid and normal renal function, 1 case of kidney stones (not stereotyped), but normal renal function, and no hyperuricemia, 9 cases of kidney disease .