波兰患者在婴儿期/儿童期被诊断出患有慢性酸性鞘磷脂酶缺乏症:2024 年更新。

IF 2.1 4区 医学 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
Patryk Lipiński, Agnieszka Ługowska, Anna Tylki-Szymańska
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引用次数: 0

摘要

背景:酸性鞘磷脂酶缺乏症(ASMD)是一种常染色体隐性遗传溶酶体储积病(LSD),与鞘磷脂磷酸二酯酶1(SMPD1)基因的双倍性致病变异有关:本研究旨在提供2024年波兰婴幼儿期诊断出的慢性内脏和神经内脏ASMD患者的最新情况:所有在儿科年龄段(0-18 岁)被诊断患有 ASMD(包括慢性神经内脏型和内脏型)的患者均被纳入研究,然后进行系统随访:结果:共有 7 名患者被纳入研究。结果:共有 7 名患者参与了研究。两名患者是新发现的ASMD患者,其中一名是慢性内脏型ASMD患者,另一名是慢性神经内脏型ASMD患者。所有患者均出现脾肿大,7 名患者中有 4 名出现轻度肝脏肿大。所有患者都出现高密度脂蛋白胆固醇(HDL-C)降低和血清 25- 羟维生素 D 浓度降低,几乎所有患者(7 人中有 6 人)都有高胆固醇血症。7 名患者中有 5 人出现樱桃红色斑点,其中包括 1 名神经内脏型患者。发现了七种不同的 SMPD1 基因变异,错义变异是最常见的基因病变类型,占所有等位基因的 71%。在所有接受筛查的患者中,发现干血斑(DBS)中的溶鞘磷脂(lyso-SM)升高;但慢性神经内脏型患者的溶鞘磷脂(lyso-SM)值更高:结论:慢性酸性鞘磷脂酶缺乏症(ASMD)是一种缓慢进展的疾病。小儿 ASMD 的特点是脾肝肿大、血脂异常(以 HDL-C 降低为最大特征)和浸润性(间质性)肺病。内脏和神经内脏慢性 ASMD 患者都可能出现樱桃红色斑点。DBS 中的酸性脊髓鞘磷脂酶活性和溶菌性脊髓鞘磷脂浓度应被视为 ASMD 的一级筛查方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Chronic acid sphingomyelinase deficiency diagnosed in infancy/childhood in Polish patients: 2024 update.

Background: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disease (LSD) associated with biallelic pathogenic variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene.

Objectives: The aim of this study was to provide the 2024 update on chronic visceral and neurovisceral ASMD diagnosed in the infancy/childhood in Polish patients.

Material and methods: All the patients diagnosed in the pediatric age (0-18 years) with ASMD, both chronic neurovisceral and visceral type, and then systematically followed up, were enrolled into the study.

Results: A total number of 7 patients were enrolled into the study. Four patients were previously reported. Two patients were newly recognized with ASMD - 1 with chronic visceral and 1 with chronic neurovisceral ASMD. Splenomegaly was noted in all the patients while a mild liver enlargement was observed in 4 of 7 patients. All patients presented with decreased high-density lipoprotein cholesterol (HDL-C) and decreased serum 25-hydroxy-vitamin D concentration while almost all (6 of 7) with hypercholesterolemia. Cherry-red spot was observed in 5 of 7 patients, including 1 patient with neurovisceral type. Seven various SMPD1 gene variants were identified and missense variants were the most common types of genetic lesions, comprising 71% of all alleles. In all the screened patients, lyso-sphingomyelin (lyso-SM) in dried blood spot (DBS) was found elevated; however, the greater values were observed for patients with chronic neurovisceral type.

Conclusion: Chronic acid sphingomyelinase deficiency (ASMD) is a slowly progressive disease. Pediatric ASMD is characterized by spleno-hepatomegaly, dyslipidemia (with decreased HDL-C as the most characteristic) and infiltrative (interstitial) lung disease. Both visceral and neurovisceral chronic ASMD patients could present with cherry-red spot. Both acid spingomyelinase activity and lyso-spingomyelin concentration in DBS should be regarded as a first-tier screening method into ASMD.

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来源期刊
Advances in Clinical and Experimental Medicine
Advances in Clinical and Experimental Medicine MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.70
自引率
4.80%
发文量
153
审稿时长
6-12 weeks
期刊介绍: Advances in Clinical and Experimental Medicine has been published by the Wroclaw Medical University since 1992. Establishing the medical journal was the idea of Prof. Bogumił Halawa, Chair of the Department of Cardiology, and was fully supported by the Rector of Wroclaw Medical University, Prof. Zbigniew Knapik. Prof. Halawa was also the first editor-in-chief, between 1992-1997. The journal, then entitled "Postępy Medycyny Klinicznej i Doświadczalnej", appeared quarterly. Prof. Leszek Paradowski was editor-in-chief from 1997-1999. In 1998 he initiated alterations in the profile and cover design of the journal which were accepted by the Editorial Board. The title was changed to Advances in Clinical and Experimental Medicine. Articles in English were welcomed. A number of outstanding representatives of medical science from Poland and abroad were invited to participate in the newly established International Editorial Staff. Prof. Antonina Harłozińska-Szmyrka was editor-in-chief in years 2000-2005, in years 2006-2007 once again prof. Leszek Paradowski and prof. Maria Podolak-Dawidziak was editor-in-chief in years 2008-2016. Since 2017 the editor-in chief is prof. Maciej Bagłaj. Since July 2005, original papers have been published only in English. Case reports are no longer accepted. The manuscripts are reviewed by two independent reviewers and a statistical reviewer, and English texts are proofread by a native speaker. The journal has been indexed in several databases: Scopus, Ulrich’sTM International Periodicals Directory, Index Copernicus and since 2007 in Thomson Reuters databases: Science Citation Index Expanded i Journal Citation Reports/Science Edition. In 2010 the journal obtained Impact Factor which is now 1.179 pts. Articles published in the journal are worth 15 points among Polish journals according to the Polish Committee for Scientific Research and 169.43 points according to the Index Copernicus. Since November 7, 2012, Advances in Clinical and Experimental Medicine has been indexed and included in National Library of Medicine’s MEDLINE database. English abstracts printed in the journal are included and searchable using PubMed http://www.ncbi.nlm.nih.gov/pubmed.
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