Robinson C, Baker N, Noble J, King A, David G, Sillence D, Hofman P, Cundy T
Department of Paediatrics, Nelson Hospital, Nelson, New Zealand.
J Inherit Metab Dis. 2002 Dec;25(8):681-93. doi: 10.1023/a:1022935115323.
Mucolipidosis type III (ML III; McKusick 252600) is a rare lysosomal storage disease in which skeletal involvement is prominent, in particular the destruction of vertebral bodies and the femoral heads. We describe studies in two siblings with ML III that suggest the presence of a distinct metabolic bone disorder. Biochemical indices of bone turnover were increased, and transiliac bone biopsy demonstrated both trabecular osteopenia and marked subperiosteal bone resorption. Intravenous pamidronate treatment given monthly for a year was well tolerated and produced dramatic clinical effects, with reduction in bone pain and improvements in mobility, despite incomplete suppression of bone resorption as assessed by biochemical, radiographic and histological criteria. Bisphosphonate therapy may have an important role in the management of bone pain in ML III, as it does in the related lysosomal disorder of Gaucher disease.
III型黏脂贮积症（ML III；麦库西克编号252600）是一种罕见的溶酶体贮积病，其中骨骼受累较为突出，尤其是椎体和股骨头的破坏。我们描述了对两名患有ML III的兄弟姐妹的研究，这些研究提示存在一种独特的代谢性骨病。骨转换的生化指标升高，经髂骨骨活检显示既有小梁骨量减少，又有明显的骨膜下骨吸收。每月静脉注射帕米膦酸治疗一年，耐受性良好，并产生了显著的临床效果，骨痛减轻，活动能力改善，尽管根据生化、影像学和组织学标准评估，骨吸收未被完全抑制。双膦酸盐治疗可能在ML III的骨痛管理中发挥重要作用，就像在相关的戈谢病溶酶体疾病中一样。
