婴儿期因次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症出现痛风和肾衰竭。
Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy.
作者信息
Holland P C, Dillon M J, Pincott J, Simmonds H A, Barratt T M
出版信息
Arch Dis Child. 1983 Oct;58(10):831-3. doi: 10.1136/adc.58.10.831.
Abstract
A month old infant had gout and renal failure caused by hypoxanthine guanine phosphoribosyl transferase (HGPRTase) deficiency. Investigations showed a high uric acid value, crystal nephropathy on ultrasound, and uric acid deposition on renal biopsy. The HGPRTase value was low in red cells and fibroblasts.
摘要
一名1月龄婴儿因次黄嘌呤鸟嘌呤磷酸核糖转移酶（HGPRTase）缺乏导致痛风和肾衰竭。检查显示尿酸值升高、超声检查提示结晶性肾病以及肾活检发现尿酸沉积。红细胞和成纤维细胞中的HGPRTase值较低。
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