远端型肌病伴镶边空泡(Nonaka肌病)研究进展

探究GNE基因(GenBankNM005476)发病机制,从患者年龄、发病几率的视角分析临床表现,以辅助检查、骨骼肌病理检查、基因检测开展检查方法,同时选择Welander远端肌肉病和散发型包涵体肌炎进行鉴别诊断。Nonaka肌病患者GNE基因突变可引起GNE/MNK酶活性的减少,并逐步导致病理形成,需在诊断的基础上进行鉴别诊断。增加唾液酸,并鼓励恰当增加镁的摄入,避免摄入过量的乙醇、硒、铜、锌等元素可改善临床症状。

Rogress Research of Distal Myopathy with Rimmed Vacuoles

The GNE gene(GenBankNM005476) pathogenesis was explored from laboratory examinations,skeletal pathology,genetic testing.Welander distal muscle disease and sporadic inclusion body myositis were diagnosed.GNE gene mutations in Nonaka myopathy patients can cause activity decrease of GNE / MNK,and gradually lead to pathological form,to be on the basis of the differential diagnosis.Conclusion Increasing sialic acid,and encouraging to appropriately increase magnesium intaking,avoiding selenium,copper,zinc and other elements can improve clinical symptoms.