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黏多糖贮积症VII型（斯利综合征）的诊断与新兴治疗策略

Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).

作者信息

Poswar Fabiano de Oliveira, Henriques Nehm Johanna, Kubaski Francyne, Poletto Edina, Giugliani Roberto

机构信息

Clinical Research Group in Medical Genetics, Clinical Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, RS, Brazil.

出版信息

Ther Clin Risk Manag. 2022 Dec 22;18:1143-1155. doi: 10.2147/TCRM.S351300. eCollection 2022.

DOI:10.2147/TCRM.S351300
PMID:36578769
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9791935/
Abstract

Mucopolysaccharidosis VII (MPS VII, Sly syndrome) is an ultra-rare lysosomal disease caused by a deficiency of the enzyme β-glucuronidase (GUS). The diagnosis is suspected based on a range of symptoms that are common to many other MPS types, and it is confirmed through biochemical and molecular studies. Besides supportive treatment, current and emerging treatments include enzyme replacement therapy, hematopoietic stem cell transplantation, and gene therapy. This review summarizes the clinical manifestations, diagnosis, and emerging treatments for MPS VII.

摘要

黏多糖贮积症VII型（MPS VII，斯利综合征）是一种极为罕见的溶酶体疾病，由β-葡萄糖醛酸酶（GUS）缺乏引起。基于许多其他MPS类型常见的一系列症状怀疑该病，并通过生化和分子研究得以确诊。除支持性治疗外，目前和新兴的治疗方法包括酶替代疗法、造血干细胞移植和基因治疗。本综述总结了MPS VII的临床表现、诊断及新兴治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0937/9791935/3342b295c92d/TCRM-18-1143-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0937/9791935/83815405ba69/TCRM-18-1143-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0937/9791935/3342b295c92d/TCRM-18-1143-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0937/9791935/83815405ba69/TCRM-18-1143-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0937/9791935/3342b295c92d/TCRM-18-1143-g0002.jpg

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本文引用的文献

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The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy.黏多糖贮积症患者细胞病理学中的炎症——以免疫调节药物作为治疗方法
Front Pharmacol. 2022 May 13;13:863667. doi: 10.3389/fphar.2022.863667. eCollection 2022.
2
Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation.基于白消安的清髓性预处理联合经人类基因组编辑的造血干细胞可提高植入率及治疗效果。
Mol Ther Methods Clin Dev. 2022 Apr 19;25:392-409. doi: 10.1016/j.omtm.2022.04.009. eCollection 2022 Jun 9.
3
Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.
肺部疾病与罕见病：它是一种溶酶体贮积症吗？鉴别诊断、发病机制与管理
Children (Basel). 2024 May 30;11(6):668. doi: 10.3390/children11060668.
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A homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis.GUSB基因的纯合错义突变导致一个因胎儿非免疫性水肿而有两次不良妊娠结局的家庭被诊断为黏多糖贮积症VII型。
Mol Genet Metab Rep. 2023 Dec 6;38:101033. doi: 10.1016/j.ymgmr.2023.101033. eCollection 2024 Mar.
5
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.遗传性碳水化合物代谢紊乱相关的代谢性心肌病和心脏缺陷：系统综述。
Int J Mol Sci. 2023 May 11;24(10):8632. doi: 10.3390/ijms24108632.
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Orphanet J Rare Dis. 2022 Jan 29;17(1):25. doi: 10.1186/s13023-022-02178-z.
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5
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6
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8
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9
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Curr Gene Ther. 2021;21(5):406-430. doi: 10.2174/1566523221666210504103323.
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