Takahashi K, Naito M, Suzuki Y
Acta Pathol Jpn. 1987 Feb;37(2):261-72.
For the purpose of evaluating electron microscopy of tissue culture in making the diagnosis of sphingolipidoses, an ultrastructural study was made on the cultured fibroblasts from 23 patients with the disorders. The characteristic cytoplasmic inclusions were observed in the cultured cells of Fabry disease, Tay-Sachs disease, Sandhoff disease, generalized gangliosidosis, Niemann-Pick disease, metachromatic leukodystrophy, and multiple sulfatase deficiency, and differ in fine structure with these diseases. All these cytoplasmic inclusions were surrounded by a single limiting membrane and enzyme cytochemically showed acid phosphatase activity, indicating their lysosomal origin. Ultrastructurally, the cytoplasmic inclusions showed pleomorphic osmiophilic inclusions in Fabry disease, membranous cytoplasmic bodies (MCB) in Tay-Sachs disease and Sandhoff disease, MCB and vacuolar inclusions containing finely reticulogranular materials in generalized gangliosidosis, myelin-like inclusions in Niemann-Pick disease, concentric lamellar inclusions in metachromatic leukodystrophy, and polymorphic cytoplasmic inclusions in multiple sulfatase deficiency. In the heterozygous carriers of Fabry disease, pleomorphic osmiophilic inclusions were also detected. However, any specific inclusions were not detectable in the cultured fibroblasts of Gaucher disease and Krabbe disease. Availability of electron microscopy in the cultured fibroblasts of sphingolipidoses is discussed.
为了评估组织培养的电子显微镜检查在鞘脂类贮积症诊断中的作用，对23例患有此类疾病患者的培养成纤维细胞进行了超微结构研究。在法布里病、泰-萨克斯病、桑德霍夫病、全身性神经节苷脂病、尼曼-匹克病、异染性脑白质营养不良和多种硫酸酯酶缺乏症的培养细胞中观察到了特征性的胞质内含物，且这些内含物在这些疾病中的精细结构有所不同。所有这些胞质内含物都被一层单一的界膜所包围，并且酶细胞化学显示具有酸性磷酸酶活性，表明它们起源于溶酶体。在超微结构上，法布里病中的胞质内含物表现为多形性嗜锇性内含物，泰-萨克斯病和桑德霍夫病中为膜性胞质小体（MCB），全身性神经节苷脂病中为MCB和含有细网状颗粒物质的空泡状内含物，尼曼-匹克病中为髓鞘样内含物，异染性脑白质营养不良中为同心层状内含物，多种硫酸酯酶缺乏症中为多形性胞质内含物。在法布里病的杂合子携带者中也检测到了多形性嗜锇性内含物。然而，在戈谢病和克拉伯病的培养成纤维细胞中未检测到任何特异性内含物。本文讨论了电子显微镜检查在鞘脂类贮积症培养成纤维细胞中的应用。
