Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience.

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Journal of Inherited Metabolic Disease Pub Date : 2024-07-11 DOI:10.1002/jimd.12780
Rachel E Hickey, Joshua Baker
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Abstract

Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder (LSD) caused by reduced activity of the acid sphingomyelinase (ASM) enzyme, which leads to progressive storage of sphingomyelin and related lipids in the body. ASMD is caused by biallelic variants in the SMPD1 gene, which encodes for the ASM enzyme. Current estimates of disease incidence range from 0.4 to 0.6 in 100 000 livebirths, although this is likely an underestimation of the true frequency of the disorder. While there is no cure for ASMD, comprehensive care guidelines and enzyme replacement therapy are available, making an early diagnosis crucial. Newborn screening (NBS) for ASMD is possible through measurement of ASM activity in dried blood spots and offers the opportunity for early diagnosis. In 2015, Illinois (IL) became the first to initiate statewide implementation of NBS for ASMD. This study describes the outcomes of screen-positive patients referred to Ann & Robert H. Lurie Children's Hospital (Lurie). Ten infants were referred for diagnostic evaluation at Lurie, and all 10 infants were classified as confirmed ASMD or at risk for ASMD through a combination of molecular and biochemical testing. Disease incidence was calculated using data from this statewide implementation program and was ~0.79 in 100 000 livebirths. This study demonstrates successful implementation of NBS for ASMD in IL, with high screen specificity and a notable absence of false positive screens.

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伊利诺伊州新生儿酸性鞘磷脂酶缺乏症筛查:单个中心的经验。
酸性鞘磷脂酶缺乏症(ASMD)是一种罕见的溶酶体贮积症(LSD),由酸性鞘磷脂酶(ASM)活性降低引起,导致体内鞘磷脂和相关脂质进行性贮积。ASMD 由编码 ASM 酶的 SMPD1 基因的双倍变体引起。目前估计该病的发病率为每 10 万活产婴儿中有 0.4 到 0.6 例,但这很可能低估了该疾病的真实发病率。虽然 ASMD 无法治愈,但有全面的护理指南和酶替代疗法,因此早期诊断至关重要。通过测量干血斑中的 ASM 活性,可以对新生儿进行 ASMD 筛查(NBS),为早期诊断提供了机会。2015 年,伊利诺伊州(IL)率先在全州范围内开始实施 ASMD NBS。本研究描述了转诊至安与罗伯特-H-卢瑞儿童医院(Lurie)的筛查阳性患者的结果。十名婴儿被转诊到 Lurie 医院进行诊断评估,通过分子和生化检测,所有十名婴儿均被归类为确诊 ASMD 或 ASMD 高危婴儿。根据这项全州实施计划的数据计算,疾病发病率约为每 10 万名活产婴儿中 0.79 例。这项研究表明,伊利诺伊州成功实施了针对 ASMD 的 NBS,筛查特异性高,而且没有出现假阳性筛查。
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来源期刊
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease 医学-内分泌学与代谢
CiteScore
9.50
自引率
7.10%
发文量
117
审稿时长
4-8 weeks
期刊介绍: The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).
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