Bollerslev J, Andersen P E
Department of Internal Medicine, Svendborg Hospital, Denmark.
Bone. 1988;9(1):7-13. doi: 10.1016/8756-3282(88)90021-x.
Review of the radiographs of 34 patients with autosomal dominant osteopetrosis revealed two distinct phenotypical types. Both were strictly family-related and exhibited progressive sclerosis with aging. Descriptive, radiogrammetric and biochemical analyses were performed. Type I showed a pronounced sclerosis of the skull with an enlarged thickness of the cranial wall. The sclerosis of the skull in Type II was most striking at the base. In Type II there was a typical "Rugger-Jersey spine," and endobones ("bone within a bone") were seen in the pelvis. The radiogrammetric investigations of the long bones did not show any difference between the two types. Compared to normal controls, there was a normal total subperiosteal width (W), but a significant enlarged cortical thickness (C) (P less than 0.01), and thus a reduced medullary cavity (M), suggesting normal bone formation and disturbed bone resorption. Serum phosphate was lower in Type I compared to Type II (P less than 0.01), and serum acid phosphatase was markedly increased in Type II (P less than 0.01), suggesting differences between the two types in bone mineral metabolism and structural functions of the osteoclasts. The two types may represent two different entities with the same mode of inheritance, and in both cases with affected bone resorption.
对34例常染色体显性遗传性骨硬化症患者的X光片进行回顾，发现了两种不同的表型类型。两者均与家族密切相关，并随年龄增长呈现进行性硬化。进行了描述性、放射测量和生化分析。I型表现为颅骨明显硬化，颅壁厚度增加。II型颅骨的硬化在底部最为明显。II型有典型的“橄榄球衫脊柱”，骨盆中可见骨中骨（“骨内骨”）。对长骨的放射测量研究未显示出两种类型之间有任何差异。与正常对照组相比，总的骨膜下宽度（W）正常，但皮质厚度（C）显著增加（P<0.01），因此髓腔（M）减小，提示骨形成正常但骨吸收受到干扰。I。I型血清磷酸盐低于II型（P<0.01），II型血清酸性磷酸酶显著升高（P<0.01），提示两种类型在骨矿物质代谢和破骨细胞结构功能方面存在差异。这两种类型可能代表具有相同遗传模式的两种不同实体，且在两种情况下均存在骨吸收受影响的情况。
