Menkes病临床研究进展

Clinical progress on Menkes disease

Menkes病是一种罕见且致命的进行性神经退行性疾病, 与ATP7A铜转运蛋白失活引起的铜缺乏有关, 经典型表现为严重的神经变性和结缔组织异常, 预后极其不佳。Menkes病在新生儿期无特异性表现, 不易早期识别, 且铜替代治疗在出现频繁惊厥和神经发育倒退后效果较差, 因此早期诊断并及时开展铜替代治疗对改善患儿预后具有重要意义。该文对Menkes病的病因、病理生理机制、组织学表现、主要临床表现、辅助检查、治疗、预后及遗传学咨询的研究进展作一综述, 以期提高临床医生对该疾病的认识。

Menkes disease is a rare and fatal progressive neurodegenerative disease associated with copper deficiency due to inactivation of the ATP7A copper transporter protein,which typically presents with severe neurodegeneration and connective tissue abnormalities and has an extremely poor prognosis.Menkes disease is not easily recognized early in the neonatal period due to its lack of neonatal specificity,and copper replacement therapy is less effective in children with frequent convulsions and neurodevelopmental regressions.Therefore,early diagnosis and timely implementation of copper replacement therapy are important for improving the prognosis of children with Menkes disease.This article reviews the progress of research on the etiology,pathophysiological mechanism,histologic features,main clinical manifestations,auxiliary examinations,treatment,prognosis and genetic counseling of Menkes disease,with the aim of improving clinicians'understanding of this disease.