The value of DHR-enzyme-linked immunosorbent assay in the diagnosis of chronic granulomatous disease by detecting NADPH oxidase complex activity.

IF 2.1 3区医学 Q2 PEDIATRICS

Frontiers in Pediatrics Pub Date : 2025-06-05 eCollection Date: 2025-01-01 DOI:10.3389/fped.2025.1483173

Wen Xiaohui, Zhao Shunying, Zhang Xiaoyan, Tang Xiaolei, Shen Yuelin, Liu Jinrong, Li Huimin, Liu Hui, Yang Haiming

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引用次数: 0

Abstract

Background: A rapid, easy, and accurate method for screening Chronic Granulomatous Disease (CGD) is crucial. This study aimed to propose and evaluate the effectiveness of the DHR-Enzyme-linked immunosorbent assay (DHR-ELISA) for assessing NADPH oxidase complex activity in the early screening of CGD.

Methods: We conducted a retrospective analysis of 72 children suspected of having CGD who underwent NADPH oxidase activity assessment and genetic testing at Beijing Children's Hospital between July 2015 and January 2022.

Results: Of the subjects, 57 were male and 15 were female, resulting in a male-to-female ratio of 3.8:1. The median age at onset was 6 months, and the median age at diagnosis was 15 months. Thirty-eight patients were diagnosed with CGD based on typical clinical manifestations and genetic testing, exhibiting symptoms such as left lymphadenopathy or calcification (65.8%), a large Calmette-Guérin scar (60.5%), a history of skin or other lymph node infections (52.6%), and specific pulmonary infections (23.7%). Thirty-one patients exhibited normal enzyme activity, whereas 41 showed reduced activity. The DHR-ELISA method demonstrated a specificity of 90% and a sensitivity ranging from 90.5% to 100% in detecting CGD.

Conclusion: The DHR-ELISA is a rapid, easy, cost-effective, and efficient method for screening CGD, making it suitable for early diagnosis and potentially improving prognosis.

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dhr酶联免疫吸附法检测NADPH氧化酶复合物活性对慢性肉芽肿病的诊断价值

背景：一种快速、简便、准确的慢性肉芽肿病（CGD）筛查方法至关重要。本研究旨在提出并评价dhr -酶联免疫吸附试验（DHR-ELISA）在CGD早期筛查中评估NADPH氧化酶复合物活性的有效性。方法：对2015年7月至2022年1月在北京儿童医院接受NADPH氧化酶活性评估和基因检测的72例疑似CGD患儿进行回顾性分析。结果：男性57人，女性15人，男女比例为3.8:1。中位发病年龄为6个月，中位诊断年龄为15个月。38例患者根据典型临床表现和基因检测诊断为CGD，表现为左侧淋巴结病变或钙化（65.8%）、较大calmette - gusamrin疤痕（60.5%）、皮肤或其他淋巴结感染史（52.6%）和特异性肺部感染（23.7%）。31例患者酶活性正常，41例患者酶活性降低。DHR-ELISA法检测CGD的特异性为90%，灵敏度为90.5% ~ 100%。结论：DHR-ELISA是一种快速、简便、经济、高效的CGD筛查方法，适用于早期诊断，有改善预后的潜力。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.