Elleder M, Smíd F
Acta Histochem. 1985;76(2):163-76. doi: 10.1016/S0065-1281(85)80054-4.
Structural, chemical, and histochemical analyses of adrenal tissue performed in 8 cases of Niemann-Pick disease (NPD) revealed stark differences of storage between spingomyelinase (SMase) deficiency (6 cases) and type C (2 cases). In all the full-blown cases of the SMase deficiency group, pronounced sphingomyelin (SM) storage was found in all the zones of the cortical epithelium with slightly increasing centripetal gradient. The storage resulted in the reduction or even disappearance of lipofuscinogenesis in the reticular zone, in the reduction of the physiological fat content, in the generalized foamy transformation of the epithelium, and in moderate organomegaly. The storage was expressed in both A and B types and was roughly proportional to the storage in other viscera. The stromal storage was confined to the vascular endothelium, and in particular, to the macrophages. One of the cases showed the presence of typical spirolactone bodies unmodified in fine structure by the lysosomal storage. Their most conspicuous enzymatic activity was that of non-specific esterase and NADH tetrazolium reductase. The adrenals in type C were macroscopically and histologically normal except for a variable population of stromal foam cells. Chemically, there was slight increase in all phospholipids with borderline or moderate percentual increase of SM. There was also slight increase in some of the lower neutral glycosphingolipids. Electron microscopy dislosed rudimentar storage in lower cortical layer epithelium which by its fine structure and according to results of lipid histochemistry was qualitatively different from that in SMase deficiency. The stromal storage was expressed mainly in macrophages in which there was histochemically detectable amount of SM. There was no storage detectable in medullary cells in neither group of NPD complex. The results point not only to striking quantitative differences in storage intensity between the 2 basic groups of NPD showing the cortical epithelium in type C as being remarkably resistant to the metabolic disorder, but also to difference in quality of the storage very much like that found in other tissues, too.
对8例尼曼-匹克病（NPD）患者的肾上腺组织进行的结构、化学和组织化学分析显示，鞘磷脂酶（SMase）缺乏症（6例）和C型（2例）之间的储存存在明显差异。在SMase缺乏症组的所有典型病例中，在皮质上皮的所有区域均发现明显的鞘磷脂（SM）储存，向心梯度略有增加。这种储存导致网状带中脂褐素生成减少甚至消失，生理脂肪含量降低，上皮细胞普遍发生泡沫样转变，并伴有中度器官肿大。这种储存在A 型和B型中均有表现，且与其他内脏器官中的储存大致成比例。间质储存局限于血管内皮，尤其是巨噬细胞。其中1例显示存在典型的螺旋内酯体，其精细结构未因溶酶体储存而改变。它们最显著的酶活性是非特异性酯酶和NADH四氮唑还原酶。C型患者的肾上腺在宏观和组织学上均正常，只是间质泡沫细胞数量不一。化学分析显示，所有磷脂均略有增加，SM的百分比增加处于临界或中等水平。一些较低的中性糖鞘脂也略有增加。电子显微镜检查发现皮质下层上皮有初步储存，根据其精细结构和脂质组织化学结果，其性质与SMase缺乏症中的储存不同。间质储存主要表现在巨噬细胞中，其中通过组织化学可检测到一定量的SM。在NPD复合体的两组中，髓质细胞均未检测到储存。结果不仅表明NPD的2个基本组在储存强度上存在显著的定量差异（显示C型中的皮质上皮对代谢紊乱具有显著抗性），而且还表明储存质量存在差异，这与在其他组织中发现的情况非常相似。
