Besley G T, Broadhead D M, Lawlor E, McCann S R, Dempsey J D, Drury M I, Crowe J
Clin Genet. 1984 Sep;26(3):195-203. doi: 10.1111/j.1399-0004.1984.tb04367.x.
An adult patient is described with hepatomegaly and sea-blue histiocytes in the bone marrow. A diagnosis of cholesterol ester storage disease was established following enzyme and lipid analyses on liver biopsy and cultured skin fibroblasts. Acid esterase activity was deficient (approx. 5% of controls) in liver and fibroblasts using [14C]-triolein or 4-methylumbelliferyl palmitate as substrates. Cholesterol ester levels were raised about 70-fold in liver, whereas triglyceride levels were only marginally raised. Marked accumulation of cholesterol esters was also demonstrated in cultured fibroblasts. Clinically, the patient responded favourably to phenobarbitone treatment. However, this was not reflected in liver acid esterase or lipid levels.
描述了一名成年患者，其肝脏肿大且骨髓中存在海蓝色组织细胞。通过对肝活检组织和培养的皮肤成纤维细胞进行酶和脂质分析，确诊为胆固醇酯贮积病。以[14C] - 三油精或4 - 甲基伞形酮棕榈酸酯为底物时，肝脏和成纤维细胞中的酸性酯酶活性缺乏（约为对照的5%）。肝脏中胆固醇酯水平升高约70倍，而甘油三酯水平仅略有升高。培养的成纤维细胞中也显示出胆固醇酯的明显积累。临床上，该患者对苯巴比妥治疗反应良好。然而，这并未反映在肝脏酸性酯酶或脂质水平上。
