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法布里病及其管理:文献分析

Fabry Disease and Its Management: A Literature Analysis.

作者信息

Besekar Smruti M, Jogdand Sangita D, Naqvi Waqar M

机构信息

Pharmacology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.

Dentistry, Humen Edutech, Nagpur, IND.

出版信息

Cureus. 2023 Apr 2;15(4):e37048. doi: 10.7759/cureus.37048. eCollection 2023 Apr.

DOI:10.7759/cureus.37048
PMID:37153259
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10154914/
Abstract

A review was conducted to evaluate interventional therapy for Fabry disease. Fabry disease is a multisystemic X-linked storage disorder that affects the entire body and needs to be treated at an early age. The search was conducted using keywords such as "Fabry disease" and "Management" to review the databases. Seven studies were chosen from the 90 studies, and it was discovered that migalastat and enzyme replacement medication were successful in treating the condition, whereas agalsidase beta failed to have a positive effect on the patient. However, this analysis produced ambiguous conclusions. As only a small number of studies were included in the analysis, additional investigations and evaluations based on randomized controlled trials and case studies are required to determine potential drug-related outcomes. There is a need for future therapeutic research to cure genetically affected illnesses and diseases such as Fabry disease.

摘要

进行了一项综述以评估法布里病的介入治疗。法布里病是一种多系统X连锁贮积病,会影响全身,需要在幼年时进行治疗。使用“法布里病”和“管理”等关键词进行检索以查阅数据库。从90项研究中选取了7项研究,发现米加司他和酶替代药物治疗该病取得了成功,而阿加糖酶β对患者未产生积极效果。然而,该分析得出的结论并不明确。由于分析中仅纳入了少量研究,因此需要基于随机对照试验和案例研究进行更多的调查和评估,以确定潜在的药物相关结果。未来需要开展治疗研究以治愈诸如法布里病等受基因影响的疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7076/10154914/a6710d9e07a0/cureus-0015-00000037048-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7076/10154914/a6710d9e07a0/cureus-0015-00000037048-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7076/10154914/a6710d9e07a0/cureus-0015-00000037048-i01.jpg

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本文引用的文献

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Chaperone Therapy in Fabry Disease.法布瑞病的伴侣蛋白治疗。
Int J Mol Sci. 2022 Feb 8;23(3):1887. doi: 10.3390/ijms23031887.
2
The PRISMA 2020 statement: an updated guideline for reporting systematic reviews.《PRISMA 2020声明:报告系统评价的更新指南》
Syst Rev. 2021 Mar 29;10(1):89. doi: 10.1186/s13643-021-01626-4.
3
Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies.JR-051(阿加糖酶β的生物类似药)在健康成年人和法布雷病患者中的药代动力学和药效学:I 期和 II/III 期临床研究。
超声心动图引导下经皮心肌间隔射频消融术治疗法布里病:一例报告
Eur Heart J Case Rep. 2024 Dec 14;9(1):ytae660. doi: 10.1093/ehjcr/ytae660. eCollection 2025 Jan.
4
Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis.病例报告:北马其顿首次诊断出法布里病,患者因肾衰竭接受血液透析治疗。
Front Genet. 2024 Aug 14;15:1415906. doi: 10.3389/fgene.2024.1415906. eCollection 2024.
Mol Genet Metab. 2020 Jul;130(3):215-224. doi: 10.1016/j.ymgme.2020.04.003. Epub 2020 May 1.
4
Current and Investigational Therapeutics for Fabry Disease.法布里病的现有及研究性治疗方法
Kidney Int Rep. 2019 Dec 6;5(4):407-413. doi: 10.1016/j.ekir.2019.11.013. eCollection 2020 Apr.
5
Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study.米拉他汀在日本人群中的疗效和安全性:ATTRACT 研究的亚组分析。
Clin Exp Nephrol. 2020 Feb;24(2):157-166. doi: 10.1007/s10157-019-01810-w. Epub 2019 Dec 30.
6
Progress in the understanding and treatment of Fabry disease.法布瑞氏病的研究进展与治疗。
Biochim Biophys Acta Gen Subj. 2020 Jan;1864(1):129437. doi: 10.1016/j.bbagen.2019.129437. Epub 2019 Sep 14.
7
Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.由GLA p.Phe113Leu(p.F113L)变异引起的法布里病:男性的自然病史。
Eur J Med Genet. 2020 Feb;63(2):103703. doi: 10.1016/j.ejmg.2019.103703. Epub 2019 Jun 11.
8
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.阿加糖酶β治疗男性 Fabry 病患儿:一项 5 年随机对照试验。
Mol Genet Metab. 2019 May;127(1):86-94. doi: 10.1016/j.ymgme.2019.03.010. Epub 2019 Apr 3.
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J Inherit Metab Dis. 2019 May;42(3):534-544. doi: 10.1002/jimd.12080. Epub 2019 Apr 8.
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Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.药物伴侣米加司他治疗法布里病经典表型和米加司他可治疗变异型的男性患者亚组的疗效:来自 3 期随机、多中心、双盲临床试验和扩展研究的数据。
Genet Med. 2019 Sep;21(9):1987-1997. doi: 10.1038/s41436-019-0451-z. Epub 2019 Feb 6.