Frank M, Many M, Sperling O
Br J Urol. 1979 Apr;51(2):88-91. doi: 10.1111/j.1464-410x.1979.tb02838.x.
Two families are reported affected with hereditary renal hypouricaemia associated with uric acid lithiasis. The propositi of both families were found also to have hyperabsorptive hypercalciuria. Based on the study of the effect of pyrazinamide and probenecid on uric acid excretion in both propositi, it is suggested that the defect in uric acid reabsorption is most probably at the pre-secretory site.
据报道，有两个家族患有与尿酸结石相关的遗传性肾性低尿酸血症。两个家族的先证者还被发现有高吸收性高钙尿症。基于对吡嗪酰胺和丙磺舒对两位先证者尿酸排泄影响的研究，提示尿酸重吸收缺陷很可能位于分泌前部位。
