Takahashi K, Naito M, Suzuki Y
Acta Pathol Jpn. 1987 Mar;37(3):385-400. doi: 10.1111/j.1440-1827.1987.tb00373.x.
The cultured skin fibroblasts biopsied from 6 cases of galactosialidosis, 4 of I-cell disease, 3 of Scheie syndrome and one of Sanfilippo B syndrome, Morquio A syndrome, sialidosis, and mannosidosis, respectively, were investigated electron microscopically to detect any cytoplasmic storage inclusions. In the cases of genetic mucopolysaccharidosis, vacuolar inclusions containing fine reticulogranular materials of low electron density predominated, showing no significant difference in fine structure among the Sanfilippo B syndrome, Scheie syndrome, and Morquio A syndrome. Similar storage inclusions were observed in sialidosis and mannosidosis and also revealed no obvious difference among the diseases and the above-mentioned syndromes of genetic mucopolysaccharidosis. In galactosialidosis, two types of inclusions, vacuolar and lamellar, were distinguished, resembling those usually seen in generalized gangliosidosis. In I-cell disease, the cytoplasmic storage inclusions were variegated; vacuolar, concentric lamellar or osmiophilic amorphous. The availability of electron microscopy in tissue culture is discussed for making the diagnosis of these diseases, and the pathogenesis of lysosomal storage inclusions in the cultured cells of the diseases is briefly viewed.
对分别取自6例半乳糖唾液酸贮积症、4例I细胞病、3例Scheie综合征以及1例Sanfilippo B综合征、Morquio A综合征、唾液酸贮积症和甘露糖苷贮积症患者的培养皮肤成纤维细胞进行了电子显微镜检查，以检测细胞质内的储存包涵体。在遗传性黏多糖贮积症的病例中，含有低电子密度细网状颗粒物质的空泡状包涵体占主导，在Sanfilippo B综合征、Scheie综合征和Morquio A综合征之间，其精细结构无显著差异。在唾液酸贮积症和甘露糖苷贮积症中也观察到类似的储存包涵体，并且在这些疾病与上述遗传性黏多糖贮积症综合征之间也未发现明显差异。在半乳糖唾液酸贮积症中，区分出两种类型的包涵体，即空泡状和层状，类似于在全身性神经节苷脂贮积症中常见的包涵体。在I细胞病中，细胞质储存包涵体多种多样；有空泡状、同心层状或嗜锇性无定形。讨论了组织培养中电子显微镜检查在这些疾病诊断中的可用性，并简要探讨了这些疾病培养细胞中溶酶体储存包涵体的发病机制。
