Ornoy A, Adomian G E, Rimoin D L
Am J Med Genet. 1985 Dec;22(4):743-58. doi: 10.1002/ajmg.1320220410.
Chondroosseous tissue from six infants with infantile hypophosphatasia and six control infants were studied by light, transmission, and scanning electron microscopy. Alkaline phosphatase histochemical reaction of the growth plate was studied in two infants and was greatly reduced when compared to two control infants. Hypertrophic chondrocytes were increased in number with persisting cartilage islets in the metaphysis. In five of the six cases studied, chondrocytes and intercartilagenous intercellular chondroid matrix appeared ultrastructurally normal. Matrix vesicle distribution was similar to that of control subjects, but they were associated with few mineral crystals. In two infants, the matrix vesicles were alkaline phosphatase nonreactive. In the calcifying zone of the growth plate and in the newly formed metaphyseal trabecular bone, cartilagenous calcospherites often were small and the orientation of crystals was nonradial when compared to that of control infants. The mineralization of diaphyseal bone appeared normal. It seems that matrix vesicles are present in hypophosphatasia and that the impaired mineralization of cartilage is due primarily to the deficiency of alkaline phosphatase. In spite of the lack of alkaline phosphatase, secondary mineralization of bone which is not mediated by matrix vesicles was normal.
对6例患有婴儿型低磷酸酯酶症的婴儿以及6例对照婴儿的软骨骨组织进行了光镜、透射电镜和扫描电镜研究。对2例婴儿的生长板进行了碱性磷酸酶组织化学反应研究，与2例对照婴儿相比，该反应大大降低。肥大软骨细胞数量增加，干骺端存在持续的软骨岛。在所研究的6例病例中的5例，软骨细胞和软骨间细胞软骨样基质在超微结构上看起来正常。基质小泡的分布与对照受试者相似，但与少量矿物晶体相关。在2例婴儿中，基质小泡对碱性磷酸酶无反应。与对照婴儿相比，在生长板的钙化区和新形成的干骺端小梁骨中，软骨钙化球通常较小，晶体取向非径向。骨干骨的矿化似乎正常。低磷酸酯酶症中似乎存在基质小泡，软骨矿化受损主要是由于碱性磷酸酶缺乏。尽管缺乏碱性磷酸酶，但不由基质小泡介导的骨的继发性矿化是正常的。
