Clinical progress on Menkes disease
10.3760/cma.j.issn.1673-4408.2024.05.009
- VernacularTitle:Menkes病临床研究进展
- Author:
Mengyao KOU
1
;
Xiangping XU
Author Information
1. 哈尔滨医科大学附属第一医院儿内科 150000
- Keywords:
Menkes disease;
ATP7A;
Epilepsy;
Bladder diverticulum;
Copper replacement therapy
- From:
International Journal of Pediatrics
2024;51(5):326-330
- CountryChina
- Language:Chinese
-
Abstract:
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.
