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ORIGINAL RESEARCH article

Front. Pediatr.
Sec. Pediatric Gastroenterology, Hepatology and Nutrition
Volume 13 - 2025 | doi: 10.3389/fped.2025.1514323

Plasma NMDAR Autoantibody: a New Biomarker for the Diagnosis of Hirschsprung disease

Provisionally accepted
Yulu Lai Yulu Lai 1jieting Lu jieting Lu 1Yanqing Liu Yanqing Liu 2Shenwei huang Shenwei huang 2Jixiao Zeng Jixiao Zeng 2Lin Li Lin Li 2Bingtong Wang Bingtong Wang 3Pengfei Wei Pengfei Wei 2Yu Ouyang Yu Ouyang 4junjian Lv junjian Lv 2Wei Zhong Wei Zhong 2Chaoting Lan Chaoting Lan 2Huimin Xia Huimin Xia 1,2Qiuming He Qiuming He 2*
  • 1 The First School Clinical Medicine, Southern Medical University, Guangzhou, Guangdong, China
  • 2 Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
  • 3 Department of infection management, Sanya Central Hospital, Sanya, China
  • 4 Guangzhou women and children's medical center, liuzhou hospital, Liuzhou, China

The final, formatted version of the article will be published soon.

    Introuduction 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.

    Keywords: biomarker, diagnosis, Hirschsprung Disease, NMDAR autoantibody, Enteric Nervous System

    Received: 20 Oct 2024; Accepted: 03 Feb 2025.

    Copyright: © 2025 Lai, Lu, Liu, huang, Zeng, Li, Wang, Wei, Ouyang, Lv, Zhong, Lan, Xia and He. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Qiuming He, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.