Yamamoto Tetsuya
Division of Endocrinology and Metabolism, Department of Internal Medicine, Hyogo College of Medicine.
Nihon Rinsho. 2008 Apr;66(4):636-40.
Hyperuricemia (serum urate level >7 mg/dL) is caused by accelerated generation of uric acid and/or impaired excretion in the kidney. It is classified into three types (overproduction, underexcretion and mixed types). The typical cases with the type of uric acid overproduction are hypoxanthine guanine phosphoribosyl transferase deficiency due to HPRT gene abnormality, excessive consumption of purine-rich diet, and cytolysis induced by chemotherapy for blood neoplasm, those with the type of underexcretion are familial juvenile hyperuricemic nephropathy due to uromodulin gene abnormality and abrupt body weight loss due to low calorie diet, and those with the mixed type are glucose 6-phosphatase deficiency due to glucose 6-phosphatase gene abnormality and excessive consumption of alcohol beverages.
高尿酸血症（血清尿酸水平>7mg/dL）是由尿酸生成加速和/或肾脏排泄功能受损引起的。它分为三种类型（生成过多型、排泄减少型和混合型）。尿酸生成过多型的典型病例包括由于HPRT基因异常导致的次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏、富含嘌呤饮食的过量摄入以及血液肿瘤化疗引起的细胞溶解；排泄减少型的典型病例包括由于尿调节蛋白基因异常导致的家族性青少年高尿酸血症肾病以及低热量饮食导致的体重骤降；混合型的典型病例包括由于葡萄糖6磷酸酶基因异常导致的葡萄糖6磷酸酶缺乏以及酒精饮料的过量摄入。
