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Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective.酸性鞘磷脂酶缺乏症：临床与免疫学透视。
Int J Mol Sci. 2021 Nov 28;22(23):12870. doi: 10.3390/ijms222312870.
2
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation.前瞻性研究儿童和成人慢性酸性鞘磷脂酶缺乏症的自然病史：十一年观察。
Orphanet J Rare Dis. 2021 May 10;16(1):212. doi: 10.1186/s13023-021-01842-0.
3
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency.酸性鞘磷脂酶缺乏症儿科患者用olipudase alfa 酶替代疗法的临床试验一年结果。
Genet Med. 2021 Aug;23(8):1543-1550. doi: 10.1038/s41436-021-01156-3. Epub 2021 Apr 19.
4
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.
5
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.阿加糖酶α治疗酸性鞘磷脂酶缺乏症（ASMD）：30 个月治疗成人的安全性和疗效。
J Inherit Metab Dis. 2018 Sep;41(5):829-838. doi: 10.1007/s10545-017-0123-6. Epub 2018 Jan 5.
6
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.酸鞘磷脂酶缺乏症诊断指南的共识建议。
Genet Med. 2017 Sep;19(9):967-974. doi: 10.1038/gim.2017.7. Epub 2017 Apr 13.
7
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).酸性鞘磷脂酶缺乏症（ASMD）患者的疾病表现和疾病负担。
Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x.
8
Types A and B Niemann-Pick disease.A型和B型尼曼-匹克病。
Mol Genet Metab. 2017 Jan-Feb;120(1-2):27-33. doi: 10.1016/j.ymgme.2016.12.008. Epub 2016 Dec 16.
9
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.使用C6:0鞘磷脂底物提高酸性鞘磷脂酶活性测定的灵敏度。
Mol Genet Metab Rep. 2015 Apr 17;3:55-7. doi: 10.1016/j.ymgmr.2015.04.001. eCollection 2015 Jun.
10
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.酸性鞘磷脂酶缺乏症患者中奥利普酶α成功进行患者内剂量递增。
Mol Genet Metab. 2015 Sep-Oct;116(1-2):88-97. doi: 10.1016/j.ymgme.2015.05.013. Epub 2015 May 30.

酸性鞘磷脂酶缺乏症：两名携带Q294K突变患者的临床谱及诊断挑战

Acid sphingomyelinase deficiency: The clinical spectrum of 2 patients who carry the Q294K mutation and diagnostic challenges.

作者信息

Blümlein Ulrike, Mengel Eugen, Amraoui Yasmina

机构信息

Klinik für Kinder- und Jugendmedizin, Carl-Thiem-Klinikum Cottbus gGmbH, Cottbus, Germany.

SphinCS GmbH, Clinical Science for LSD, Hochheim, Germany.

出版信息

Mol Genet Metab Rep. 2022 Jul 19;32:100900. doi: 10.1016/j.ymgmr.2022.100900. eCollection 2022 Sep.

DOI:10.1016/j.ymgmr.2022.100900
PMID:36046391
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9421469/
Abstract

Acid sphingomyelinase deficiency (ASMD) is caused by pathogenic variants in the gene. This chronic, progressive, and potentially fatal condition requires prompt specialist care. The diagnosis of ASMD can be delayed or missed if patients that harbor the Q294K mutation undergo enzyme activity assessments that employ synthetic fluorometric substrates. Two case studies are presented, which illustrate the spectrum of disease in patients with a compound heterozygous Q294K pathogenic variant and the impact of false normal ASM activity results.

摘要

酸性鞘磷脂酶缺乏症（ASMD）由该基因的致病变异引起。这种慢性、进行性且可能致命的病症需要及时的专科护理。如果携带Q294K突变的患者接受使用合成荧光底物的酶活性评估，ASMD的诊断可能会延迟或漏诊。本文介绍了两个病例研究，阐述了携带复合杂合Q294K致病变异患者的疾病谱以及假正常ASM活性结果的影响。