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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。
Middle-aged female patients, urine abnormalities in February, normal renal function, mild anemia, high-density lipoprotein cholesterol was significantly reduced. Patients and their brother had fish eye corneal opacity. Blood lecithin cholesterol acyltransferase (LCAT) activity was significantly reduced. Renal biopsy glomerular basement membrane and mesangial area extensive vacuolar degeneration, electron microscopy glomerular basement membrane and mesangial area also see a wide range of vacuoles, a small number of residual vacuole residual osmiophilic substances. Patients were eventually diagnosed with inherited LCAT deficiency kidney damage.