Plasma NMDAR autoantibody: a new biomarker for the diagnosis of Hirschsprung disease.

IF 2 3区 医学 Q2 PEDIATRICS Frontiers in Pediatrics Pub Date : 2025-02-21 eCollection Date: 2025-01-01 DOI:10.3389/fped.2025.1514323
Yulu Lai, Jieting Lu, Yanqing Liu, Jixiao Zeng, Shenwei Huang, Lin Li, Bingtong Wang, Pengfei Wei, Yu Ouyang, Junjian Lv, Wei Zhong, Chaoting Lan, Huimin Xia, Qiuming He
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Abstract

Introduction: Hirschsprung Disease (HSCR) is a common congenital intestinal disease in pediatrics. Early diagnosis and treatment after birth alleviate the occurrence of complications. Consequently, we aim to identifiy a biomarker with ease of use, non-invasiveness, and highly accurate for diagnosis.

Methods: Plasma samples were collected from HSCR group, other intestinal disease controls (DC) and healthy controls (HC), while colon samples were collected from HSCR and DC groups. We conducted human neural autoantibody microarray analyses on plasma. The candidate biomarker was further validated using enzyme-linked immunosorbent assay (ELISA) in colon tissue and plasma. The receiver operating characteristic curve (ROC) was used to assess the diagnostic performance of the plasma biomarker.

Results: Microarray analysis revealed that the level of plasma N-methyl-D-Aspartate receptor (NMDAR) autoantibody in HSCR group was significantly higher than those in the HC group (p = 0.008). In plasma analyzed cohort, the level of NMDAR autoantibodies in HSCR group (n = 38) were significantly elevated compared to both the HC (n = 31, p < 0.0001) and the DC (n = 20, p < 0.0001). We further validated the diagnostic efficacy of plasma NMDAR autoantibody, it demonstrated AUCs of 0.96 and 0.81 for diagnosing HSCR when compared to HC and DC.

Conclusions: Plasma NMDAR autoantibody might be served as an efficient, non-invasive biomarker for diagnosing HSCR.

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血浆NMDAR自身抗体:巨结肠病诊断的新生物标志物
先天性巨结肠病(HSCR)是儿科常见的先天性肠道疾病。出生后早期诊断和治疗可减轻并发症的发生。因此,我们的目标是鉴定一种易于使用,非侵入性和诊断高度准确的生物标志物。方法:采集HSCR组、其他肠道疾病对照组(DC)和健康对照组(HC)的血浆样本,同时采集HSCR组和DC组的结肠样本。我们对血浆进行了人类神经自身抗体芯片分析。在结肠组织和血浆中使用酶联免疫吸附试验(ELISA)进一步验证候选生物标志物。采用受试者工作特征曲线(ROC)评估血浆生物标志物的诊断性能。结果:微阵列分析显示HSCR组血浆n -甲基- d -天冬氨酸受体(NMDAR)自身抗体水平显著高于HC组(p = 0.008)。在血浆分析队列中,HSCR组(n = 38)的NMDAR自身抗体水平显著高于HC组(n = 31, p = 20, p)。结论:血浆NMDAR自身抗体可作为诊断HSCR的有效、无创生物标志物。
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来源期刊
Frontiers in Pediatrics
Frontiers in Pediatrics Medicine-Pediatrics, Perinatology and Child Health
CiteScore
3.60
自引率
7.70%
发文量
2132
审稿时长
14 weeks
期刊介绍: Frontiers in Pediatrics (Impact Factor 2.33) publishes rigorously peer-reviewed research broadly across the field, from basic to clinical research that meets ongoing challenges in pediatric patient care and child health. Field Chief Editors Arjan Te Pas at Leiden University and Michael L. Moritz at the Children''s Hospital of Pittsburgh are supported by an outstanding Editorial Board of international experts. This multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. Frontiers in Pediatrics also features Research Topics, Frontiers special theme-focused issues managed by Guest Associate Editors, addressing important areas in pediatrics. In this fashion, Frontiers serves as an outlet to publish the broadest aspects of pediatrics in both basic and clinical research, including high-quality reviews, case reports, editorials and commentaries related to all aspects of pediatrics.
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