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学科主题: 临床医学
题名:
Niemann-Pick disease type C: analysis of 7 patients
作者: Xiong, Hui1; Bao, Xin-Hua1; Zhang, Yue-Hua1; Xu, You-Ning2; Qin, Jiong1; Shi, Hui-Ping3,4; Wu, Xi-Ru1
关键词: Niemann-Pick disease type C ; sea-blue cells ; vertical supranuclear gaze palsy
刊名: WORLD JOURNAL OF PEDIATRICS
发表日期: 2012-02-01
DOI: 10.1007/s12519-011-0284-6
卷: 8, 期:1, 页:61-66
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Pediatrics
研究领域[WOS]: Pediatrics
关键词[WOS]: NPC1 MUTATIONS ; ADULT ; CHOLESTEROL ; ONSET ; MIGLUSTAT ; DATABASE
英文摘要:

Background: Niemann-Pick disease type C (NP-C), derived from mutation of the NPC1 or NPC2 gene, is one of the recessive lysosomal lipid storage disorders that are difficult to diagnose and treat. Since NP-C has been rarely reported in China, we reviewed 7 patients with NP-C.

Methods: The 7 patients had been diagnosed with NP-C from 2007 to 2010 at our department and their laboratory and clinical data were analyzed.

Results: The 7 patients, 5 males and 2 females, included 4 patients of late infantile subtype and 3 patients of juvenile subtype, in which patients 2 and 3 were siblings. Their clinical symptoms occurred from 4 to 10 years of age, exhibiting as progressive cognitive and language impairment as well as motor retrogression. Six patients were caught by focal or generalized seizures from 1 to 4 years after the onset of the disease. Vertical supranuclear gaze palsy, dysarthria, dysphagia, internal rotation and adduction of bilateral hands and splenomegaly occurred following the progress of clinical symptoms. Five patients had laughter-cataplexy. MRI showed mild brain atrophy in 6 patients. Reduction of total cholesterol, high density lipoprotein cholesterol and low density lipoprotein cholesterol occurred in 6 patients. Sea-blue cells and Niemann-Pick cells were found in bone marrow smears. The activity of acid sphingomyelin enzyme was normal or only slightly lower. Supporting or symptomatic treatment improved common clinical symptoms.

Conclusions: NP-C is a rare autosomal recessive inherited lysosomal storage disease that affects the intellectual development of children and may lead to dementia, vegetative state or death. Clinical features of this disease include vertical supranuclear gaze palsy, seizures and cataplexy. Laboratory features include abnormal plasma cholesterol level, and sea-blue cells and Niemann-Pick cells in bone marrow smears. The treatments of the disease include supporting or symptomatic administration. World J Pediatr 2012;8(1):61-66

语种: 英语
WOS记录号: WOS:000299916200011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64355
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.Beijing Changping Dist Hosp, Dept Pediat, Beijing, Peoples R China
3.Peking Union Med Coll, Beijing 100021, Peoples R China
4.Chinese Acad Med Sci, Inst Basic Med Sci, Dept Genet, Beijing 100730, Peoples R China

Recommended Citation:
Xiong, Hui,Bao, Xin-Hua,Zhang, Yue-Hua,et al. Niemann-Pick disease type C: analysis of 7 patients[J]. WORLD JOURNAL OF PEDIATRICS,2012,8(1):61-66.
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