Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency.
Evaluation of urinary cells in acid cholesteryl ester hydrolase deficiency.
复制标题
酸性胆固醇酯水解酶缺乏症泌尿细胞的评估。
DOI：
10.1111/j.1399-0004.1986.tb00505.x
复制
发表时间：
1986
影响因子：
3.5
通讯作者：
Brewer,HB
中科院分区：
文献类型：
--
作者：
Chatterjee,S;Castiglione,E;KwiterovichJr,PO;Hoeg,JM;Brewer,HB
缺乏负责胆固醇酯水解的溶酶体酶，酸性胆固醇酯水解酶（E. C. 3.1.1.13），导致两种临床公认的疾病：沃尔曼病和胆固醇酯沉积病（CESD）。这些疾病中的酶缺陷已经在所有研究的组织中检测到，包括白细胞、成纤维细胞和肝脏。对来自充分表征的Wolman病和CESD病例的尿沉淀物的分析也揭示了富含脂质的肾小管细胞的脱落。这些细胞的形态学，酶和脂质成分的研究表明，从这些人的成纤维细胞和白细胞中观察到的酶缺乏反映在这些细胞脱落在尿液中。肾小管细胞中的这些发现证实并扩展了其他细胞类型中的发现。这些研究表明，分析尿沉渣在疑似病例的酸性胆固醇酯缺乏症可能提供了一个有意义的方法，用于监测治疗尝试，包括酶输注和基因治疗。
Deficiency in the lysosomal enzyme responsible for cholesteryl ester hydrolysis, acid cholesteryl ester hydrolase (E.C. 3.1.1.13), leads to two clinically recognized diseases: Wolman disease and cholesteryl ester storage disease (CESD). The enzyme defect in these diseases has been detected in all the tissues studied including leukocytes, fibroblasts and liver. Analysis of urinary sediment from well characterized cases of Wolman disease and CESD also revealed the shedding of lipid enriched renal tubular cells. Morphologic, enzymic and lipid compositional studies of these cells indicate that the enzyme deficiency observed in fibroblasts and leukocytes from these individuals are reflected in these cells shed in the urine. These findings in renal tubular cells confirm and extend those made in other cell types. These studies indicate that analysis of urinary sediment in suspected cases of acid cholesteryl ester deficiency may provide a meaningful approach for monitoring therapeutic attempts involving enzyme infusion and gene therapy.