Hirasaki S, Koide N, Fujita K, Ogawa H, Tsuji T
First Department of Internal Medicine, Okayama University School of Medicine.
Intern Med. 1997 Mar;36(3):201-5. doi: 10.2169/internalmedicine.36.201.
We treated two cases of renal hypouricemia with nephrolithiasis. The serum uric acid level of the first patient was 1.5 mg/dl, and the ratio of uric acid clearance to creatinine clearance (CUA/Ccr) was 75.7%. In the benzbromarone (BZB) suppression test, CUA/Ccr was increased from 60.4% to 130.0%, but was not decreased in response to the pyrazinamide (PZA) suppression test. This patient was considered to have a presecretory reabsorptive urate transportation defect. His condition was also associated with IgA nephropathy. The serum uric acid level in the second patient was 1.0 mg/dl and CUA/Ccr was 56.0%. Neither PZA nor BZB had a significant effect on CUA/Ccr. He was considered to have a subtotal uric acid transportation defect. Both patients were incidentally found to have nephrolithiasis. The second patient had abnormal maximum tubular secretory capacity for para-aminohippurate (PAH) (TmPAH), and was found to have two kinds of proximal tubular abnormalities related to uric acid and PAH.
我们治疗了两例患有肾结石的肾性低尿酸血症患者。首例患者的血清尿酸水平为1.5mg/dl，尿酸清除率与肌酐清除率之比（CUA/Ccr）为75.7%。在苯溴马隆（BZB）抑制试验中，CUA/Ccr从60.4%升至130.0%，但在吡嗪酰胺（PZA）抑制试验中未降低。该患者被认为存在分泌前重吸收性尿酸转运缺陷。其病情还与IgA肾病相关。第二例患者的血清尿酸水平为1.0mg/dl，CUA/Ccr为56.0%。PZA和BZB对CUA/Ccr均无显著影响。他被认为存在部分尿酸转运缺陷。两名患者均偶然发现患有肾结石。第二例患者对对氨基马尿酸（PAH）的最大肾小管分泌能力（TmPAH）异常，且发现有两种与尿酸和PAH相关的近端肾小管异常。
