Kiyama S, Kitamoto Y, Nakayama M, Fukui H, Arima S, Tomita M, Inoue T, Sato T
3rd Department of Internal Medicine, Kumamoto University Medical School, Japan.
Nihon Jinzo Gakkai Shi. 1991 Jan;33(1):81-5.
The renal disease in an adult woman with Type 1 glycogen storage disease (GSD) is reported. Since she was 15 years old, several episodes of gouty arthritis had developed. At the age of 18, proteinuria was pointed out. Hepatomegaly, renomegaly out of proportion to the impairment of renal function, hyperuricemia, hyperlipidemia, fasting hypoglycemia and lactic acidemia were observed. The diagnosis of GSD was established on the basis of a glucose tolerance test, glucagon test and liver biopsy. The findings of renal biopsies performed at the ages of 24 and 27 years old suggested that glomerular damage might have preceded the tubulo-interstitial lesion.
报告了一名成年1型糖原贮积病（GSD）女性患者的肾脏疾病。自15岁起，她出现了几次痛风性关节炎发作。18岁时，发现蛋白尿。观察到肝脏肿大、肾功能损害程度不相称的肾脏肿大、高尿酸血症、高脂血症、空腹低血糖和乳酸性血症。基于葡萄糖耐量试验、胰高血糖素试验和肝活检确诊为GSD。在24岁和27岁时进行的肾活检结果表明，肾小球损伤可能先于肾小管间质病变。
