Advance in Niemann-Pick disease type C
10.3760/cma.j.issn.1673-4408.2022.06.014
- VernacularTitle:尼曼匹克病C型研究进展
- Author:
Siyuan GUO
1
;
Jianxin HE
;
Xiuyun LIU
Author Information
1. 国家儿童医学中心 国家呼吸系统疾病临床医学研究中心 首都医科大学附属北京儿童医院呼吸科 100045
- Keywords:
Niemann-Pick disease type C;
Hepatosplenomegaly;
Vertical supranuclear gaze palsy;
Miglustat
- From:
International Journal of Pediatrics
2022;49(6):414-417
- CountryChina
- Language:Chinese
-
Abstract:
Niemann-Pick disease type C is a lipid storage disorder associated with impaired intracellular cholesterol trafficking, caused by mutations of either NPC1 or NPC2 genes.According to the age at onset of symptoms, it is divided into 5 categories, including neonatal, early-infantile, late-infantile, juvenile and adult type.There are differences in clinical manifestations and prognoses among each category.The characteristic clinical manifestations are hepatosplenomegaly, lung infiltration, vertical supranuclear gaze palsy and gelastic cataplexy.The definite diagnosis requires demonstration of unesterified cholesterol accumulated in fibroblasts cultured from skin biopsies with filipin staining and(or) of pathogenic mutation of NPC1/NPC2 genes.There is no effective treatment for this disease yet, therefore the overall prognosis is still poor.Miglustat can delay onset of the neurological symptoms, and prolong survival of partial patients.
