Teefe Enock, Kim Jenny, Lopez Grisel, Sidransky Ellen
Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Mol Genet Metab Rep. 2015 Dec 1;5:107-109. doi: 10.1016/j.ymgmr.2015.10.008.
Type 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 22 year old with type 3 GD, chronically treated with enzyme replacement therapy. These atypical bone findings, previously reported in two similar patients with type 3 GD, expand our understanding of the evolving natural history of GD in the post-treatment era.
3型戈谢病（GD）表现为血液系统、神经系统和骨骼受累，包括烧瓶样骨畸形、骨质减少、疼痛性骨危象和骨折。我们描述了一名22岁3型GD患者的双侧对称性溶骨性病变，该患者长期接受酶替代治疗。这些非典型的骨骼表现，此前在另外两名相似的3型GD患者中也有报道，拓展了我们对治疗后时代GD演变自然史的认识。
