Kostner G M, Hadorn B, Roscher A, Zechner R
J Inherit Metab Dis. 1985;8(1):9-12. doi: 10.1007/BF01805475.
The plasma lipids, lipoproteins and lipolytic enzymes of a patient suffering from cholesterol ester storage disease were investigated and followed over a time period of 3 years. The patient was hypertriglyceridaemic and cholesterolaemic and exhibited very low levels of high density lipoproteins. These lipoproteins consisted almost exclusively of the HDL-subfraction-3. Apolipoprotein-B was elevated and apoAI and AII were grossly reduced. The activity of lipoprotein lipase was normal, but hepatic lipase values were increased. Lecithin: cholesterol acyltransferase was in the upper normal range. The corresponding lipoprotein and enzyme values of one brother were within normal limits but some components measured in the plasma of the father were abnormal. It is speculated that the low plasma HDL levels in this disease may be a consequence of increased hepatic lipase activity in addition to a derangement in the reverse cholesterol flow.
对一名患有胆固醇酯贮积病的患者的血浆脂质、脂蛋白和脂解酶进行了研究，并在3年的时间段内进行了跟踪。该患者甘油三酯血症和胆固醇血症，高密度脂蛋白水平极低。这些脂蛋白几乎完全由HDL亚组分-3组成。载脂蛋白B升高，载脂蛋白AI和AII显著降低。脂蛋白脂肪酶活性正常，但肝脂肪酶值升高。卵磷脂：胆固醇酰基转移酶在正常上限范围内。一个兄弟的相应脂蛋白和酶值在正常范围内，但在父亲血浆中检测到的一些成分异常。据推测，除了逆向胆固醇转运紊乱外，该疾病中血浆HDL水平低可能是肝脂肪酶活性增加的结果。
