Resnick J M, Whitley C B, Leonard A S, Krivit W, Snover D C
Department of Laboratory Medicine, University of Minnesota Hospitals and Clinics, Minneapolis 55455.
Hum Pathol. 1994 Mar;25(3):276-86. doi: 10.1016/0046-8177(94)90200-3.
The mucopolysaccharidosis (MPS) diseases lead to the accumulation of glycosaminoglycan in many tissues. In this study 19 MPS I, one MPS II, five MPS III, and two MPS VI patients underwent liver biopsy for light and electron microscopic examination. Electron microscopy was performed for all 27 specimens. Twenty-six specimens were studied by light microscopy, and the slides were stained with colloidal iron and alcian blue in 26 and six biopsy specimens, respectively. By hematoxylin-eosin stain 20 of 26 cases showed hepatocellular dilatation with rarefaction of the cytoplasm; the Kupffer cells were unremarkable. Twenty-four and 25 of the 26 biopsy specimens showed substantial colloidal iron staining of hepatocytes and Kupffer cells, respectively. The six biopsy specimens prepared with alcian blue stain showed no reactivity of any cell type. Electron microscopy revealed characteristic membrane-bound inclusions within the hepatocytes and Kupffer cells of all 27 biopsy specimens. Of 19 cases in which Ito cells were identified, 18 included cells containing similar inclusions. Twenty of 27 biopsy specimens also demonstrated the hepatocellular accumulation of lipid droplets. Although there were no absolute distinguishing features among the various MPS diseases, the two MPS VI cases showed glycosaminoglycan inclusions that were fewer in number, smaller, and contained more abundant lipofusion than those associated with the other MPS types.
黏多糖贮积症（MPS）会导致糖胺聚糖在许多组织中蓄积。在本研究中，19例MPS I型、1例MPS II型、5例MPS III型和2例MPS VI型患者接受了肝活检，以进行光镜和电镜检查。对所有27个标本进行了电镜检查。26个标本进行了光镜研究，其中26个活检标本用胶体铁染色，6个活检标本用阿尔辛蓝染色。苏木精-伊红染色显示，26例中有20例肝细胞扩张，细胞质疏松；库普弗细胞无明显异常。26个活检标本中，分别有24个和25个显示肝细胞和库普弗细胞有大量胶体铁染色。用阿尔辛蓝染色制备的6个活检标本未显示任何细胞类型有反应性。电镜显示，所有27个活检标本的肝细胞和库普弗细胞内均有特征性的膜结合包涵体。在19例鉴定出伊托细胞的病例中，18例包含含有类似包涵体的细胞。27个活检标本中有20个还显示肝细胞内有脂滴蓄积。尽管各种MPS疾病之间没有绝对的鉴别特征，但2例MPS VI型病例的糖胺聚糖包涵体数量较少、体积较小，且与其他MPS类型相比含有更丰富的脂褐素。
