Improve the understanding of childhood inherited leukodystrophies
10.3760/cma.j.issn.2095-428X.2017.20.003
- VernacularTitle:提高对儿童遗传性脑白质营养不良性疾病的认识
- Author:
Xiaoping LUO
1
;
Yanqin YING
Author Information
1. 华中科技大学同济医学院附属同济医院儿科
- Keywords:
Inherited leukodystrophy;
Classic leuokodystrophy;
Genetic leukoencephalopathy
- From:
Chinese Journal of Applied Clinical Pediatrics
2017;32(20):1530-1532
- CountryChina
- Language:Chinese
-
Abstract:
Childhood inherited leukodystrophies are common and diagnostic challenge disorders in inherited metabolic diseases.The rate of definite diagnosis of these diseases is lower,the early diagnosis is difficult,and the clinicians lack awareness for it.With the development of head imaging technology and the application of high-throughput gene sequencing technology,the list of inherited leukodystrophies has been increased to more than one hundred typies.Now,the classification,clinical features,specific biochemical tests and imaging characteristics of inherited leukodystrophies are reviewed,and the application of high-throughput sequencing in the diagnosis of these diseases in order to improve understanding of childhood inherited leukodystrophies are introduced.
