一例糖脂类脂沉积症（法布里病）的临床及电子显微镜研究

Rae A I, Lee J C, Hopper J

J Clin Pathol. 1967 Jan;20(1):21-7. doi: 10.1136/jcp.20.1.21.

A case of glycolipid lipoidosis (Fabry's disease) in a 27-year-old man is recorded. The case is unusual in that despite extensive disease evidenced by widespread skin lesions, ocular abnormalities, and proteinuria, renal function was only minimally impaired. Electron microscope studies of kidney and skin showed that most cells contained the characteristic lipid described in this condition.

记录了一名27岁男性的糖脂类脂沉积症（法布里病）病例。该病例不同寻常之处在于，尽管广泛的皮肤病变、眼部异常和蛋白尿表明疾病已广泛存在，但肾功能仅受到轻微损害。对肾脏和皮肤的电子显微镜研究显示，大多数细胞含有这种病症中描述的特征性脂质。