Janke M, Börner M, Mueller-Garamvölgyi E, Hess R
Spital STS AG Thun, Krankenhausstrasse 12, CH-3600, Thun, Switzerland.
Orthopade. 2008 Mar;37(3):251-2, 254-6. doi: 10.1007/s00132-008-1197-5.
We present a case of a pathologic humerus fracture in a patient with the initial diagnosis of Gaucher's disease, which is the most frequent form of lipidosis transmitted as an autosomal recessive trait. It often results in orthopaedic complications with pain, osteonecrosis, fractures and joint infractions. If there is cause for suspicion, beta-glucocerebrosidase in white blood cells should be measured because of the important consequences for treatment. Therapy with a modified enzyme is effective in managing the disease.
我们报告了一例最初诊断为戈谢病的患者发生病理性肱骨骨折的病例。戈谢病是最常见的脂代谢病，以常染色体隐性性状遗传。它常导致骨科并发症，如疼痛、骨坏死、骨折和关节损伤。如果有怀疑的理由，应检测白细胞中的β-葡萄糖脑苷脂酶，因为这对治疗有重要影响。用改良酶进行治疗对控制该病有效。
