关键词: 卵磷脂胆固醇酰基转移酶缺乏症, 鱼眼病, 高密度脂蛋白

Abstract:

ABSTRACT A forty year-old woman presented with proteinuria and hematuria for two months. She had mild anemia, normal renal function and significantly lower high-density lipoprotein (HDL) cholesterol. Corneal greyish opacities were observed in the patient and her brother. The absence of LCAT activity was detected in this patient. Renal biopsy showed irregular thickening of the GBM and expansion of mesangial region with focal vacuolization. Electron microscopy showed glomerular epimembranous, intramembranous, subendothelial, and mesangial accumulations of extracellular lipid material with membranous profiles and granules. The final diagnosis was renal disease associated with familiar LCAT deficiency. 

Key words:  lecithin-cholesterol acyltransferase deficiency, fish-eye disease, HDL