Javier Rose-Marie, Hachulla Eric
Service de Rhumatologie, Hôpital de Hautepierre, Avenue Molière, Strasbourg, France.
Presse Med. 2007 Dec;36(12 Pt 3):1971-84. doi: 10.1016/j.lpm.2007.04.012. Epub 2007 May 10.
Gaucher disease frequently has severe osteoarticular manifestations that may be disabling. Ischemic phenomena cause the most serious complications and lead to irreversible lesions. Aseptic osteonecrosis of the hip is the most disabling complication; it causes intense early bone pain and often joint collapse and secondary osteoarthritis in young adults. Localized or systemic bone fragility explains osteopenia, osteoporosis, and fractures (vertebral collapse with irreversible kyphosis causing chronic morbidity). Although no double-blind randomized studies have assessed the bone effects of enzyme replacement therapy, it has been shown effective in reducing bone pain in about half of all treatment-naive patients within 1 to 2 years and in improving bone mineral density after 3 years. In open-label trials, substrate reduction therapy (miglustat) reduced both bone pain and bone marrow infiltration. Specific treatment for bone fragility, with bisphosphonates for example, should be considered after rigorous individualized evaluation and assessment of other risk factors.
戈谢病常常有严重的骨关节表现，可能导致残疾。缺血现象会引发最严重的并发症，并导致不可逆的损害。髋关节无菌性骨坏死是最致残的并发症；它会在早期引起剧烈的骨痛，并且常常导致年轻人的关节塌陷和继发性骨关节炎。局部或全身性的骨质脆弱可解释骨质减少、骨质疏松和骨折（椎体塌陷伴不可逆的脊柱后凸，导致慢性发病）。尽管尚无双盲随机研究评估酶替代疗法对骨骼的影响，但已表明该疗法在1至2年内可使约一半未经治疗的患者骨痛减轻，并在3年后改善骨矿物质密度。在开放标签试验中，底物减少疗法（米格列醇）可减轻骨痛和骨髓浸润。在经过严格的个体化评估和对其他危险因素的评估后，应考虑采用如双膦酸盐等针对骨质脆弱的特异性治疗方法。
