摘要
中年女性患者,尿检异常2月,肾功能正常、轻度贫血,高密度脂蛋白胆固醇显著降低。患者及其二哥有鱼眼状角膜混浊。血卵磷脂胆固醇酰基转移酶(LCAT)活性明显降低。肾活检组织学肾小球基膜及系膜区广泛空泡变性,电镜下肾小球基膜及系膜区亦见广泛空泡化,少数空泡残留嗜锇性物质。访患者最终诊断为遗传性LCAT缺乏症肾损害。
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.
出处
《肾脏病与透析肾移植杂志》
CAS
CSCD
北大核心
2014年第3期283-288,共6页
Chinese Journal of Nephrology,Dialysis & Transplantation
