Clinical and genetic characteristics of Menkes disease
10.3760/cma.j.cn101070-20230706-00564
- VernacularTitle:Menkes病的临床与遗传学特点
- Author:
Na WANG
1
;
Pingyun QIAO
;
Xiao LI
;
Jianchuang ZHAO
;
Yue WANG
;
Xiaoli LI
;
Fan LI
;
Xiaoli ZHANG
;
Junying QIAO
;
Falin XU
Author Information
1. 郑州大学第三附属医院儿内科，郑州 450052
- Keywords:
Clinical feature;
Menkes disease;
Ceruloplasmin;
ATP7A gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(6):455-459
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical and genetic characteristics of children with Menkes disease(MD).Methods:The clinical manifestations, auxiliary examinations and genetic testing results of 15 MD children admitted to the Department of Pediatrics of the Third Affiliated Hospital of Zhengzhou University, Children′s Hospital Affiliated of Zhengzhou University and the First Affiliated Hospital of Zhengzhou University from June 2016 to October 2022 were analyzed retrospectively.These children were followed up.Results:All the 15 children were male.The age at onset was ranging from 9 days to 5.5 months.White skin, curly hair, skin laxity, hypotonia and severe developmental delay were found in all children, with epilepsy in 13 children, anemia in 11 children and granulocytopenia in 4 children.The concentration of ceruloplasmin in the serum of MD children was lower than that in healthy children of the same age.The concentration of ceruloplasmin in MD children younger than 3 months was significantly lower than that in healthy children of the same age and MD children older than 3 months.The brain magnetic resonance imaging showed abnormalities in all 15 children.Twelve children showed tortuous intracranial vessels in brain magnetic resonance angiography examinations.All the 15 children had ATP7A gene pathogenic variants, including 4 missense variants(2 cases with c. 2179G>A), 3 frameshift variants, 3 nonsense variants, 3 exon deletions and 2 splice site variants.Among these children, 1 had a novel gene variant that had not been reported so far(c.2968C>T). Conclusions:MD has early onset age and diverse clinical manifestations, but also has characteristic clinical manifestations and applicable auxiliary examinations.Its diagnosis depends on genetic testing.The c. 2179G>A and exon deletions may be hot mutations in Chinese MD patients.
