Giuffrida Gaetano, Cappellini Maria Domenica, Carubbi Francesca, Di Rocco Maja, Iolascon Giovanni
Division of Hematology, Department of Clinical and Molecular Biomedicine, University of Catania, Ospedale Ferrarotto, Catania, Italy.
Adv Ther. 2014 Dec;31(12):1197-212. doi: 10.1007/s12325-014-0174-0. Epub 2014 Dec 17.
Gaucher disease is a rare autosomal recessive disorder of glycosphingolipid metabolism resulting from deficient activity of the lysosomal enzyme beta-glucocerebrosidase that causes accumulation of glucosylceramide in tissue macrophage with damage to hematological, visceral, and skeletal organ systems. Severity and progression may vary independently among these domains, necessitating individualized therapy. Skeletal involvement is highly prevalent and often associated with intense pain, impaired mobility, and reduced quality of life. Enzyme replacement therapy improves parameters in all affected domains, but skeletal involvement requires longer treatment and higher dosages to obtain significant results. Despite numerous papers on bone complications in patients with Gaucher disease, there are no specific indications on how to assess properly bone involvement in such condition, the frequency of assessment, the use of markers for osteoblast and osteoclast activity, or the administration of bisphosphonates or other symptomatic drugs in adult and pediatric patients. Starting from a re-evaluation of cases with bone involvement, we have identified some common errors in the diagnostic approach and management. The aim of this paper was to propose a methodological and critical approach to the diagnosis, follow-up and treatment of bone disease in patients with Gaucher disease type 1.
戈谢病是一种罕见的常染色体隐性糖鞘脂代谢紊乱疾病，由溶酶体酶β-葡萄糖脑苷脂酶活性缺乏所致，该酶缺乏会导致葡糖神经酰胺在组织巨噬细胞中蓄积，进而损害血液、内脏和骨骼器官系统。这些领域的严重程度和进展可能各自独立变化，因此需要个体化治疗。骨骼受累非常普遍，常伴有剧痛、活动能力受损和生活质量下降。酶替代疗法可改善所有受累领域的指标，但骨骼受累需要更长时间的治疗和更高剂量才能取得显著效果。尽管有大量关于戈谢病患者骨并发症的论文，但对于如何在这种情况下正确评估骨受累情况、评估频率、成骨细胞和破骨细胞活性标志物的使用，或在成人和儿童患者中使用双膦酸盐或其他对症药物，均没有具体的指导意见。从对骨受累病例的重新评估出发，我们在诊断方法和管理中发现了一些常见错误。本文旨在提出一种针对1型戈谢病患者骨病诊断、随访和治疗的方法及批判性方法。
