中华骨质疏松和骨矿盐疾病杂志2018，Vol.11Issue(1)：104-110,7.DOI:10.3969/j.issn.1674-2591.2018.01.016
以股骨中段病理性骨折为首发表现的成人戈谢病1例
Pathological fractures in middle femur as the first manifestation of an adult with Gaucher disease: a case report
摘要
Abstract
Gaucher disease is a rare autosomal recessive disorder involving bone. Its typical bone damage is an erlenmeyer flask deformity of the femur. This paper introduces a case of adult Gaucher disease with pathological fractures in left middle femur as the initial manifestation. There was no typical bone deformity in this case, but extensive reticular changes of systemic skeleton. Further, we summarized the manifestations of skeletal involvement of Gaucher disease and the relationship between phenotype and genotype of Gaucher disease by literature reviewing.关键词
病理性骨折/戈谢病/葡萄糖脑苷脂酶/骨损害Key words
pathological fracture/Gaucher disease/glucocerebrosidase/bone lesion分类
医药卫生引用本文复制引用
王志敏,张惠箴,杨庆城,章振林..以股骨中段病理性骨折为首发表现的成人戈谢病1例[J].中华骨质疏松和骨矿盐疾病杂志,2018,11(1):104-110,7.基金项目
上海市科委基础研究重点项目(14JC1405000) （14JC1405000）
