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Niemann-Pick disease type C: analysis of 7 patients
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
2012-02-01
DOI10.1007/s12519-011-0284-6
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
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/64355
专题北京大学第一临床医学院_儿科
北京大学第二临床医学院_儿科
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
推荐引用方式
GB/T 7714
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.
APA Xiong, Hui.,Bao, Xin-Hua.,Zhang, Yue-Hua.,Xu, You-Ning.,Qin, Jiong.,...&Wu, Xi-Ru.(2012).Niemann-Pick disease type C: analysis of 7 patients.WORLD JOURNAL OF PEDIATRICS,8(1),61-66.
MLA Xiong, Hui,et al."Niemann-Pick disease type C: analysis of 7 patients".WORLD JOURNAL OF PEDIATRICS 8.1(2012):61-66.
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