Ikeda K, Goebel H H, Burck U, Kohlschütter A
Eur J Pediatr. 1982 Mar;138(2):179-85. doi: 10.1007/BF00441150.
Ultrastructural examination of peripheral lymphocytes was performed in 28 cases of various lysosomal diseases, including infantile, late infantile and juvenile neuronal ceroid-lipofuscinoses (NCL), mucopolysaccharidoses (MPS), juvenile and adult metachromatic leukocystrophies (MLD), GM1-gangliosidosis, one patient with presumed mucolipidosis type IV, mucolipidosis type III, and glycogenosis type II. Based on our own observations on the ultrastructure of lymphocytes in lysosomal disorders, our results may be divided into the following 3 groups: 1. pathological findings with specific inclusions: each type of NCL, presumed mucolipidosis type IV, glycogenosis type II; 2 pathological findings with vacuoles: types I-H, II, III-A and III-B, IV, VI-A and VI-B of MPS, GM1-gangliosidosis; 3. apparently no pathological findings: juvenile and adult MLD, mucolipidosis type III, GM2-gangliosidosis, Gaucher disease. These results led us to conclude that morphological investigations utilizing lymphocytes do not always offer sufficient diagnostic information although easy accessibility favors diagnostic ultrastructural studies of lymphocytes. Such morphological studies should be supplemented by diagnostic biochemical methods.
对28例各种溶酶体疾病患者的外周淋巴细胞进行了超微结构检查，这些疾病包括婴儿型、晚婴儿型和青少年型神经元蜡样脂褐质沉积症（NCL）、粘多糖贮积症（MPS）、青少年型和成人型异染性脑白质营养不良（MLD）、GM1神经节苷脂贮积症、1例疑似IV型粘脂贮积症患者、III型粘脂贮积症和II型糖原贮积症。基于我们对溶酶体疾病中淋巴细胞超微结构的观察，我们的结果可分为以下3组：1. 具有特异性包涵体的病理发现：每种类型的NCL、疑似IV型粘脂贮积症、II型糖原贮积症；2. 具有空泡的病理发现：MPS的I-H型、II型、III-A和III-B型、IV型、VI-A和VI-B型，GM1神经节苷脂贮积症；3. 明显无病理发现：青少年型和成人型MLD、III型粘脂贮积症、GM2神经节苷脂贮积症、戈谢病。这些结果使我们得出结论，尽管淋巴细胞易于获取有利于进行诊断性超微结构研究，但利用淋巴细胞进行的形态学研究并不总是能提供足够的诊断信息。此类形态学研究应辅以诊断性生化方法。
