尼曼-皮克病:七个相关问题

N. D. Vashakmadze, N. V. Zhurkova
{"title":"尼曼-皮克病:七个相关问题","authors":"N. D. Vashakmadze, N. V. Zhurkova","doi":"10.15690/vsp.v22i6.2702","DOIUrl":null,"url":null,"abstract":"Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neurovisceral form (Niemann-Pick disease type A) with severe rapidly progressive neurodegeneration to chronic visceral form (Niemann-Pick disease type B) with almost no central nervous system involvement. There is also intermediate phenotype: chronic neurovisceral form (Niemann-Pick disease type A/B) that includes manifestations two other forms, both visceral and neurological. The disease course is most commonly progressive and multi-system due to sphingomyelin accumulation in cells of the monocyte-macrophage system, as well as in other cells such as hepatocytes.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Niemann-Pick Disease: Seven Questions about it\",\"authors\":\"N. D. Vashakmadze, N. V. Zhurkova\",\"doi\":\"10.15690/vsp.v22i6.2702\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neurovisceral form (Niemann-Pick disease type A) with severe rapidly progressive neurodegeneration to chronic visceral form (Niemann-Pick disease type B) with almost no central nervous system involvement. There is also intermediate phenotype: chronic neurovisceral form (Niemann-Pick disease type A/B) that includes manifestations two other forms, both visceral and neurological. The disease course is most commonly progressive and multi-system due to sphingomyelin accumulation in cells of the monocyte-macrophage system, as well as in other cells such as hepatocytes.\",\"PeriodicalId\":10867,\"journal\":{\"name\":\"Current pediatrics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current pediatrics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15690/vsp.v22i6.2702\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15690/vsp.v22i6.2702","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

酸性鞘磷脂酶缺乏症是一种罕见的遗传性疾病,由于 SMPD1 基因突变导致酶缺乏。酶活性降低会导致鞘磷脂在溶酶体中积聚。这种疾病的临床表现多种多样:从伴有严重快速进展性神经变性的婴儿神经内脏型(尼曼-皮克病 A 型)到几乎不累及中枢神经系统的慢性内脏型(尼曼-皮克病 B 型)。还有一种中间表型:慢性神经内脏型(尼曼-皮克病 A/AB 型),包括内脏和神经系统两种表现。由于鞘磷脂在单核-巨噬细胞系统细胞以及其他细胞(如肝细胞)中积聚,该病的病程通常是进行性和多系统的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Niemann-Pick Disease: Seven Questions about it
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neurovisceral form (Niemann-Pick disease type A) with severe rapidly progressive neurodegeneration to chronic visceral form (Niemann-Pick disease type B) with almost no central nervous system involvement. There is also intermediate phenotype: chronic neurovisceral form (Niemann-Pick disease type A/B) that includes manifestations two other forms, both visceral and neurological. The disease course is most commonly progressive and multi-system due to sphingomyelin accumulation in cells of the monocyte-macrophage system, as well as in other cells such as hepatocytes.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信