如何通过骨髓涂片和外周血涂片诊断酸性鞘磷脂酶缺乏症（ASMD）和尼曼-匹克病C型。 - Suppr

How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.

作者信息

Girard Sandrine, Pettazzoni Magali, Froissart Roseline, Pagan Cécile, Boyer Thomas, Dulucq Stephanie, Gonçalves Monteiro Valérie, Lechevalier Nicolas, Loosveld Marie, Lours Camille, Mayeur-Rousse Caroline, Pannetier Mélanie, Peillon Caroline, Rosenthal Maria-Alessandra, Sep Hieng Sonnthida, Trichet Catherine, Baseggio Lucile

机构信息

Hospices Civils de Lyon, Service d'Hématologie Biologique et Hémostase Clinique Groupement Hospitalier Lyon-Est Bron France.

Hospices Civils de Lyon, Service de Biochimie et Biologie Moléculaire, Laboratoire des maladies héréditaires du métabolisme Groupement Hospitalier Est Bron France.

出版信息

Hemasphere. 2024 Nov 5;8(11):e70042. doi: 10.1002/hem3.70042. eCollection 2024 Nov.

DOI:10.1002/hem3.70042

PMID:39507854

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11538321/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aad1/11538321/9bc6e80ce2a9/HEM3-8-e70042-g001.jpg

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How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.如何通过骨髓涂片和外周血涂片诊断酸性鞘磷脂酶缺乏症（ASMD）和尼曼-匹克病C型。

Hemasphere. 2024 Nov 5;8(11):e70042. doi: 10.1002/hem3.70042. eCollection 2024 Nov.

Acid Sphingomyelinase Deficiency酸性鞘磷脂酶缺乏症

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus.酸性鞘磷脂酶缺乏症（ASMD）：填补意大利未满足需求和患者就医过程中的知识空白——德尔菲共识

Intern Emerg Med. 2023 Apr;18(3):831-842. doi: 10.1007/s11739-023-03238-3. Epub 2023 Mar 7.

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.慢性内脏型和慢性神经内脏型酸性鞘磷脂酶缺乏症（尼曼-匹克病B型和B变异型）患者的死因：文献综述及新病例报告

Mol Genet Metab. 2016 Jul;118(3):206-213. doi: 10.1016/j.ymgme.2016.05.001. Epub 2016 May 11.

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.慢性内脏酸性鞘磷脂酶缺乏症（尼曼-匹克病 B 型）在 16 名波兰患者中的长期随访。

Orphanet J Rare Dis. 2019 Feb 22;14(1):55. doi: 10.1186/s13023-019-1029-1.

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.

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.

Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.重要的是，要在疑似患有戈谢病的患者中纳入酸性鞘磷脂酶缺乏症（ASMD）的鉴别诊断。

Mol Genet Metab. 2023 May;139(1):107563. doi: 10.1016/j.ymgme.2023.107563. Epub 2023 Mar 30.

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].成年期酸性鞘磷脂酶缺乏症（尼曼-匹克病B型）：28例成年病例的回顾性多中心研究

Rev Med Interne. 2017 May;38(5):291-299. doi: 10.1016/j.revmed.2016.10.387. Epub 2016 Nov 22.

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report.婴儿神经内脏型酸性鞘磷脂酶缺乏症（尼曼-匹克病A型）的尸检病理学：一例病例报告的临床病理相关性

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引用本文的文献

A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.1例B型酸性鞘磷脂酶缺乏症，伴有大量吞噬有核细胞的组织细胞及复合杂合性。

J Hematop. 2025 May 9;18(1):24. doi: 10.1007/s12308-025-00641-x.

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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.

Orphanet J Rare Dis. 2023 Apr 17;18(1):85. doi: 10.1186/s13023-023-02686-6.

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).尼曼-匹克病 C 型患者的临床疾病特征：国际尼曼-匹克病登记处（INPDR）的研究结果。

Orphanet J Rare Dis. 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4.

Multiple myeloma occurring in a case of Niemann-Pick disease Type B: A pathophysiological link?尼曼-匹克病B型患者发生多发性骨髓瘤：存在病理生理联系？

Br J Haematol. 2022 May;197(4):e53-e55. doi: 10.1111/bjh.18050. Epub 2022 Feb 10.

Clinical Significance of CBC and WBC Morphology in the Diagnosis and Clinical Course of COVID-19 Infection.CBC 和 WBC 形态学在 COVID-19 感染诊断和临床过程中的临床意义。

Am J Clin Pathol. 2021 Feb 11;155(3):364-375. doi: 10.1093/ajcp/aqaa231.

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD).酸鞘磷脂酶缺乏症（ASMD）患者临床监测建议。

Mol Genet Metab. 2019 Feb;126(2):98-105. doi: 10.1016/j.ymgme.2018.11.014. Epub 2018 Nov 29.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.血浆和羊水中间鞘脂的液相色谱-串联质谱多重分析：一种用于筛查鞘脂贮积症和尼曼-匹克C型病的新工具。

PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.酸性鞘磷脂酶缺乏型尼曼-匹克病的发病机制与治疗

J Inherit Metab Dis. 2007 Oct;30(5):654-63. doi: 10.1007/s10545-007-0632-9. Epub 2007 Jul 12.

Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre.用于代谢紊乱诊断的血片空泡淋巴细胞检查：来自单一中心2500多例病例的回顾性经验

J Clin Pathol. 2005 Dec;58(12):1305-10. doi: 10.1136/jcp.2005.027045.

The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.B型尼曼-匹克病的自然病史：一项为期10年的纵向研究结果

Pediatrics. 2004 Dec;114(6):e672-7. doi: 10.1542/peds.2004-0887. Epub 2004 Nov 15.

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How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C from bone marrow and peripheral blood smears.

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