溶酶体贮积症概述。
Lysosomal storage disease overview.
作者信息
Sun Angela
机构信息
Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.
出版信息
Ann Transl Med. 2018 Dec;6(24):476. doi: 10.21037/atm.2018.11.39.
Abstract
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation. Examples of LSDs include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses. This review summarizes the main clinical features, diagnosis, and management of LSDs with an emphasis on those for which treatment is available.
摘要
溶酶体贮积症（LSDs）是一组遗传性代谢紊乱疾病，大部分由溶酶体内的酶缺乏引起，导致未降解底物的蓄积。这种贮积过程会根据特定底物和蓄积部位产生广泛的临床表现。溶酶体贮积症的例子包括黏多糖贮积症、黏脂贮积症、寡糖贮积症、庞贝病、戈谢病、法布里病、尼曼-匹克病以及神经元蜡样脂褐质沉积症。本综述总结了溶酶体贮积症的主要临床特征、诊断和管理，重点关注那些有可用治疗方法的疾病。
相似文献
1
Lysosomal storage disease overview.溶酶体贮积症概述。
Ann Transl Med. 2018 Dec;6(24):476. doi: 10.21037/atm.2018.11.39.
2
Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.基于质谱的神经退行性溶酶体贮积症蛋白质组学。
Mol Omics. 2022 May 11;18(4):256-278. doi: 10.1039/d2mo00004k.
3
Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China.华东地区溶酶体贮积症亚型的人口统计学特征和分布。
J Hum Genet. 2016 Apr;61(4):345-9. doi: 10.1038/jhg.2015.155. Epub 2016 Jan 7.
4
Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.遗传性代谢紊乱：干血斑酶测定法在溶酶体贮积症诊断中的效能
JIMD Rep. 2017;31:15-27. doi: 10.1007/8904_2016_548. Epub 2016 Mar 24.
5
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases.生物治疗靶点或清除途径：溶酶体贮积病小鼠模型中巨噬细胞甘露糖受体组织分布的分析。
J Inherit Metab Dis. 2011 Jun;34(3):795-809. doi: 10.1007/s10545-011-9285-9. Epub 2011 Mar 17.
6
Immune system irregularities in lysosomal storage disorders.溶酶体贮积症中的免疫系统异常。
Acta Neuropathol. 2008 Feb;115(2):159-74. doi: 10.1007/s00401-007-0296-4. Epub 2007 Oct 9.
7
A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders.多种溶酶体贮积症内吞途径改变的比较研究
Mol Pharm. 2016 Feb 1;13(2):357-368. doi: 10.1021/acs.molpharmaceut.5b00542. Epub 2016 Jan 11.
8
Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.墨西哥患者队列中六种溶酶体贮积症的新生儿筛查：墨西哥封闭卫生系统筛查项目的三年结果
Mol Genet Metab. 2017 May;121(1):16-21. doi: 10.1016/j.ymgme.2017.03.001. Epub 2017 Mar 9.
9
Lysosomal storage diseases.溶酶体贮积症
Transl Sci Rare Dis. 2017 May 25;2(1-2):1-71. doi: 10.3233/TRD-160005.
10
Newborn screening for lysosomal storage disorders.新生儿溶酶体贮积症筛查。
Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):63-71. doi: 10.1002/ajmg.c.30291. Epub 2011 Feb 10.
引用本文的文献
1
Epigenetic Profiling of Cell-Free DNA in Cerebrospinal Fluid: A Novel Biomarker Approach for Metabolic Brain Diseases.脑脊液中游离DNA的表观遗传学分析：一种用于代谢性脑病的新型生物标志物方法。
Life (Basel). 2025 Jul 25;15(8):1181. doi: 10.3390/life15081181.
2
Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.法布里病：超越贮积现象——炎症在疾病进展中的作用
Int J Mol Sci. 2025 Jul 22;26(15):7054. doi: 10.3390/ijms26157054.
3
Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review.婴儿型庞贝病治疗方案的最新进展：一篇全面的叙述性综述
Clin Med Insights Pediatr. 2025 Aug 11;19:11795565251337900. doi: 10.1177/11795565251337900. eCollection 2025.
4
Impaired mitochondria-initiated crosstalk with lysosomes reciprocally aggravates mitochondrial defect through LManVI.线粒体引发的与溶酶体的串扰受损通过甘露糖-6-磷酸受体相互加重线粒体缺陷。
Nat Commun. 2025 Aug 7;16(1):7304. doi: 10.1038/s41467-025-62147-5.
5
Prognostic Modeling of Deleterious IDUA Mutations L238Q and P385R in Hurler Syndrome Through Molecular Dynamics Simulations.通过分子动力学模拟对黏多糖贮积症I型（Hurler综合征）中有害的艾杜糖醛酸酶（IDUA）突变L238Q和P385R进行预后建模。
Pharmaceuticals (Basel). 2025 Jun 19;18(6):922. doi: 10.3390/ph18060922.
6
Yeast-Produced Human Recombinant Lysosomal β-Hexosaminidase Efficiently Rescues GM2 Ganglioside Accumulation in Tay-Sachs Disease.酵母生产的人重组溶酶体β-己糖胺酶可有效挽救泰-萨克斯病中的GM2神经节苷脂蓄积。
J Pers Med. 2025 May 10;15(5):196. doi: 10.3390/jpm15050196.
7
A rare paediatric case with overlapping clinical features of epidermodysplasia verruciformis and pyoderma gangrenosum with hepatosplenomegaly.一例罕见的儿科病例，具有疣状表皮发育不良、坏疽性脓皮病重叠的临床特征，并伴有肝脾肿大。
Skin Health Dis. 2025 Jan 20;5(1):45-49. doi: 10.1093/skinhd/vzae003. eCollection 2025 Feb.
8
Cutaneous manifestations of Fabry disease: A systematic review.法布里病的皮肤表现：一项系统评价。
J Dermatol. 2025 Apr;52(4):571-582. doi: 10.1111/1346-8138.17690. Epub 2025 Mar 7.
9
Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.法布里病与炎症：NF-κB复合物的一种亚型p65 iso5的潜在作用
Cells. 2025 Feb 6;14(3):230. doi: 10.3390/cells14030230.
10
Human-based complex models: their promise and potential for rare disease therapeutics.基于人类的复杂模型：它们在罕见病治疗中的前景与潜力。
Front Cell Dev Biol. 2025 Jan 27;13:1526306. doi: 10.3389/fcell.2025.1526306. eCollection 2025.
本文引用的文献
1
Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.经典婴儿型庞贝病治疗 13 年后的心脏结局：重组人酸性α-葡萄糖苷酶治疗。
Int J Cardiol. 2018 Oct 15;269:104-110. doi: 10.1016/j.ijcard.2018.07.091. Epub 2018 Jul 19.
2
European expert consensus statement on therapeutic goals in Fabry disease.欧洲专家共识声明：法布瑞氏病治疗目标。
Mol Genet Metab. 2018 Jul;124(3):189-203. doi: 10.1016/j.ymgme.2018.06.004. Epub 2018 Jun 12.
3
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series.早期造血干细胞移植预防II型黏多糖贮积症神经认知功能衰退的有效性：病例系列研究
JIMD Rep. 2018;41:81-89. doi: 10.1007/8904_2018_104. Epub 2018 Apr 19.
4
Fabry disease revisited: Management and treatment recommendations for adult patients.重新审视法布里病：成年患者的管理和治疗建议。
Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28.
5
Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease.泰利苷酶阿尔法：6 项成人和儿童戈谢病临床研究中的安全性和疗效。
Orphanet J Rare Dis. 2018 Feb 23;13(1):36. doi: 10.1186/s13023-018-0776-8.
6
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.尼曼-匹克病C型检测与诊断的建议：最新进展
Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399.
7
Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.各种疾病谱中确诊新生儿筛查患者庞贝病的管理。
Pediatrics. 2017 Jul;140(Suppl 1):S24-S45. doi: 10.1542/peds.2016-0280E.
8
Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS).戈谢病 1209 例患者的人口统计学和患者特征：戈谢病结局调查（GOS）的描述性分析。
Am J Hematol. 2018 Feb;93(2):205-212. doi: 10.1002/ajh.24957. Epub 2017 Dec 12.
9
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI: 10-Year follow up.酶替代疗法延缓了两名日本黏多糖贮积症VI型患者的疾病进展：10年随访
Mol Genet Metab Rep. 2017 Sep 14;13:69-75. doi: 10.1016/j.ymgmr.2017.08.007. eCollection 2017 Dec.
10
Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.18个月依利格鲁司他治疗初治1型戈谢病成年患者的疗效：3期ENGAGE试验。
Am J Hematol. 2017 Nov;92(11):1170-1176. doi: 10.1002/ajh.24877. Epub 2017 Oct 3.
Zotero 插件