不明原因脾肿大作为一种罕见但严重疾病的诊断标志物及一种创新且高效的新治疗选择：病例报告
Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report.
作者信息
Van Baelen Amber, Verhulst Stijn, Eyskens François
机构信息
Center of Inherited Metabolic Diseases, Antwerp University Hospital, Drie Eikenstraat, 655 2650 Edegem, Belgium.
Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Universiteitsplein 1, 2610 Antwerpen Campus Drie Eiken Building T, Belgium.
出版信息
Mol Genet Metab Rep. 2024 Sep 28;41:101144. doi: 10.1016/j.ymgmr.2024.101144. eCollection 2024 Dec.
Abstract
Acid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can lead to severe complications if not promptly treated. This case aims to highlight the critical importance of early awareness of ASMD and to introduce, for the first time in the literature, a new and highly effective treatment option for children.
摘要
酸性鞘磷脂酶缺乏症（ASMD）是一种溶酶体贮积症，如果不及时治疗，可能会导致严重并发症。本病例旨在强调早期认识ASMD的至关重要性，并在文献中首次介绍一种针对儿童的全新且高效的治疗方案。
相似文献
1
Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option: A case report.不明原因脾肿大作为一种罕见但严重疾病的诊断标志物及一种创新且高效的新治疗选择：病例报告
Mol Genet Metab Rep. 2024 Sep 28;41:101144. doi: 10.1016/j.ymgmr.2024.101144. eCollection 2024 Dec.
2
Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency.奥立普酶α的实际生活影响：接受酸性鞘磷脂酶缺乏症酶替代疗法的患者和家庭的经历。
Orphanet J Rare Dis. 2024 Feb 1;19(1):36. doi: 10.1186/s13023-024-03020-4.
4
Olipudase Alfa in Non-CNS Manifestations of Acid Sphingomyelinase Deficiency: A Profile of Its Use.酸性鞘磷脂酶缺乏症非 CNS 表现的olipudase Alfa：使用情况简介。
Clin Drug Investig. 2023 May;43(5):369-377. doi: 10.1007/s40261-023-01270-x. Epub 2023 May 3.
5
Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.戈谢病与酸性鞘磷脂酶缺乏症之间的异同：一种辅助诊断的算法
Eur J Intern Med. 2023 Feb;108:81-84. doi: 10.1016/j.ejim.2022.11.028. Epub 2022 Nov 26.
6
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.阿糖苷酶α酶替代疗法治疗酸性鞘磷脂酶缺乏症（ASMD）：成人治疗 6.5 年后临床结局持续改善。
Orphanet J Rare Dis. 2023 Apr 25;18(1):94. doi: 10.1186/s13023-023-02700-x.
7
Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis.患有酸性鞘磷脂酶缺乏症 B 型患者的医疗服务使用模式：一项美国回顾性理赔分析。
Adv Ther. 2023 May;40(5):2234-2248. doi: 10.1007/s12325-023-02453-w. Epub 2023 Mar 10.
8
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.长达 2 年的阿糖苷酶 α 治疗成人酸性鞘磷脂酶缺乏症：ASCEND 试验的开放标签扩展研究中疾病表现的持续改善。
Orphanet J Rare Dis. 2023 Dec 2;18(1):378. doi: 10.1186/s13023-023-02983-0.
9
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.一项评估奥利普酶阿尔法酶替代疗法治疗成人慢性酸性鞘磷脂酶缺乏症（ASMD）的随机、安慰剂对照临床试验：一年的结果。
Genet Med. 2022 Jul;24(7):1425-1436. doi: 10.1016/j.gim.2022.03.021. Epub 2022 Apr 26.
10
Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan.现实世界中针对酸性鞘磷脂酶缺乏症儿童的酶替代疗法：台湾地区单中心经验
Mol Genet Metab Rep. 2023 Jan 31;34:100957. doi: 10.1016/j.ymgmr.2023.100957. eCollection 2023 Mar.
引用本文的文献
1
High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results.使用干血斑和卡皮泰纳装置对法布里病、戈谢病和尼曼-匹克病进行靶向筛查和监测的高分辨率质谱法：样品基质对测量结果的影响
Int J Mol Sci. 2025 Aug 7;26(15):7641. doi: 10.3390/ijms26157641.
2
From Genes to Treatment: Literature Review and Perspectives on Acid Sphingomyelinase Deficiency in Children.从基因到治疗：儿童酸性鞘磷脂酶缺乏症的文献综述与展望
Diagnostics (Basel). 2025 Mar 21;15(7):804. doi: 10.3390/diagnostics15070804.
本文引用的文献
1
Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.成人慢性内脏酸性鞘磷脂酶缺乏症的自然病程：迈向治疗标准的第一步。
J Inherit Metab Dis. 2025 Jan;48(1):e12789. doi: 10.1002/jimd.12789. Epub 2024 Aug 23.
2
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.戈谢病还是酸性鞘磷脂酶缺乏症？鉴别诊断的重要性。
J Clin Med. 2024 Mar 5;13(5):1487. doi: 10.3390/jcm13051487.
3
Diagnostic odyssey for patients with acid sphingomyelinase deficiency (ASMD): Exploring the potential indicators of diagnosis using quantitative and qualitative data.酸性鞘磷脂酶缺乏症（ASMD）患者的诊断历程：利用定量和定性数据探索潜在诊断指标
Mol Genet Metab Rep. 2024 Jan 17;38:101052. doi: 10.1016/j.ymgmr.2024.101052. eCollection 2024 Mar.
4
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry.一种通过串联质谱法对干血斑中葡萄糖基神经酰胺和三己糖神经酰胺进行的新型多重分析。
Mol Genet Metab Rep. 2023 Aug 18;37:100993. doi: 10.1016/j.ymgmr.2023.100993. eCollection 2023 Dec.
5
Olipudase alfa enzyme replacement therapy for acid sphingomyelinase deficiency (ASMD): sustained improvements in clinical outcomes after 6.5 years of treatment in adults.阿糖苷酶α酶替代疗法治疗酸性鞘磷脂酶缺乏症（ASMD）：成人治疗 6.5 年后临床结局持续改善。
Orphanet J Rare Dis. 2023 Apr 25;18(1):94. doi: 10.1186/s13023-023-02700-x.
6
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).酸性鞘磷脂酶缺乏症（尼曼-匹克病 A、B 和 A/B 型）的共识临床管理指南。
Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6.
7
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results.酸性鞘磷脂酶缺乏症儿科患者用奥利普酶阿尔法酶替代疗法的长期安全性和临床结局：两年结果。
Orphanet J Rare Dis. 2022 Dec 14;17(1):437. doi: 10.1186/s13023-022-02587-0.
8
Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.戈谢病与酸性鞘磷脂酶缺乏症之间的异同：一种辅助诊断的算法
Eur J Intern Med. 2023 Feb;108:81-84. doi: 10.1016/j.ejim.2022.11.028. Epub 2022 Nov 26.
9
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.一项评估奥利普酶阿尔法酶替代疗法治疗成人慢性酸性鞘磷脂酶缺乏症（ASMD）的随机、安慰剂对照临床试验：一年的结果。
Genet Med. 2022 Jul;24(7):1425-1436. doi: 10.1016/j.gim.2022.03.021. Epub 2022 Apr 26.
10
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency.在酸性鞘磷脂酶缺乏症中，血浆溶血鞘磷脂水平与临床严重程度呈正相关。
Mol Genet Metab Rep. 2021 Jul 7;28:100780. doi: 10.1016/j.ymgmr.2021.100780. eCollection 2021 Sep.
Zotero 插件