Kuntz H D, May B, Schejbal V, Assmann G
Leber Magen Darm. 1981 Dec;11(6):258-63.
Cholesteryl ester storage disease is a rare disorder if cholesterol metabolism characterized by excessive hepatic storage of cholesteryl esters. The underlying defect probably is decreased activity of alpha-naphtyl-acetatesterase, a lysosomal acid lipase. The leading symptom in the early stage is a pronounced enlargement of the liver without subjective complaints or other changes in the physical status. Diagnosis can be established by liver biopsy, which will yield characteristic findings, and by exclusion of other storage disease. Histologic examination of the biopsy specimen will show lipid droplets in hepatic parenchymal cells, vacuolated Kupffer cells and focal accumulation of foamy cells. Biochemical analysis of the biopsy specimen will show an increased content of cholesteryl esters. Investigation of media of culture fibroblasts will show decreased activity of lysosomal alpha-naphtyl-acetat-esterase. In addition adrenal calcification has to be ruled out, in order to exclude wolman's disease. The prognosis of the disease will depend upon the degree of liver insufficiency, since lympho-histiocytic infiltration as a secondary phenomenon may lead to septal fibrosis and cirrhosis in children or adolescents in most cases. A case report is given of a 13-year old girl suffering from this disease.
胆固醇酯贮积病是一种罕见的胆固醇代谢紊乱疾病，其特征为肝脏中胆固醇酯过度蓄积。潜在缺陷可能是α-萘乙酸酯酶（一种溶酶体酸性脂肪酶）活性降低。早期主要症状是肝脏明显肿大，无主观不适或身体状况的其他改变。可通过肝活检确诊，肝活检会得出特征性结果，同时排除其他贮积病。活检标本的组织学检查会显示肝实质细胞中有脂滴、空泡化的库普弗细胞以及泡沫细胞的局灶性聚集。活检标本的生化分析会显示胆固醇酯含量增加。培养成纤维细胞的培养基检测会显示溶酶体α-萘乙酸酯酶活性降低。此外，必须排除肾上腺钙化，以排除沃尔曼病。该病的预后取决于肝功能不全的程度，因为作为继发现象的淋巴细胞-组织细胞浸润在大多数情况下可能导致儿童或青少年出现间隔性纤维化和肝硬化。本文给出了一名患此病的13岁女孩的病例报告。
