{"title":"Plasma NMDAR autoantibody: a new biomarker for the diagnosis of Hirschsprung disease.","authors":"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","doi":"10.3389/fped.2025.1514323","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>Plasma samples were collected from HSCR group, other intestinal disease controls (DC) and healthy controls (HC)<b>,</b> 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.</p><p><strong>Results: </strong>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 (<i>p</i> = 0.008). In plasma analyzed cohort, the level of NMDAR autoantibodies in HSCR group (<i>n</i> = 38) were significantly elevated compared to both the HC (<i>n</i> = 31, <i>p</i> < 0.0001) and the DC (<i>n</i> = 20, <i>p</i> < 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.</p><p><strong>Conclusions: </strong>Plasma NMDAR autoantibody might be served as an efficient, non-invasive biomarker for diagnosing HSCR.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"13 ","pages":"1514323"},"PeriodicalIF":2.1000,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885489/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3389/fped.2025.1514323","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
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.
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.