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葡萄糖-6-磷酸脱氢酶缺乏症与儿童常见疾病易感性的关联分析。

The association analysis between Glucose-6-Phosphate dehydrogenase deficiency and susceptibility to common diseases in children.

作者信息

Liang De-Feng, Li Xue, Guo Wen-Lin, Tang Shu-Han, Ye Xiao-Ying, Zhang Song, Yang Li-Ye

机构信息

Department of Emergency, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou, Guangdong, China.

Department of Rheumatology and Immunology, the Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.

出版信息

Pediatr Res. 2025 May 27. doi: 10.1038/s41390-025-04148-0.

Abstract

BACKGROUND

This study investigates the relationship between G6PD deficiency and susceptibility to common pediatric diseases.

METHODS

A retrospective analysis was conducted on hospitalized children who underwent G6PD screening at the Guangzhou Women and Children's Medical Center from January 2019 to March 2024.

RESULTS

Among 36,619 children, 20,662 were male. The prevalence of G6PD deficiency in males was significantly higher in conditions such as nephritis (OR 2.43,95%CI 1.45-4.21), allergic purpura (OR 2.24, 95%CI 1.24-4.09), patent ductus arteriosus (OR 2.04, 95%CI 1.32-3.33), atrial septal defect (OR 2.14, 95%CI 1.41-3.45), ventricular septal defect (OR 1.73, 95%CI 1.12-2.80), and type 1 diabetes (OR 2.04, 95%CI 1.16-3.66). Among 15,957 female patients, the prevalence of G6PD deficiency was significantly elevated in systemic lupus erythematosus (SLE) (OR 1.87, 95%CI 1.27-2.70), juvenile arthritis (OR 1.79, 95%CI 1.16-2.68), nephritis (OR 1.72, 95%CI 1.16-2.49), patent ductus arteriosus (OR 1.27, 95%CI 1.00-1.61), atrial septal defect (OR 1.33, 95%CI 1.10-1.61), and ventricular septal defect (OR 1.55, 95%CI 1.26-1.91).

CONCLUSION

G6PD deficiency may increase the risk of autoimmune diseases, congenital heart defects, and type 1 diabetes in children. Further studies are required to elucidate its role in pediatric disease susceptibility and inform clinical management.

IMPACT

  1. This study found that G6PD deficiency is significantly associated with increased susceptibility to several common pediatric diseases, including autoimmune diseases, congenital heart defects, and type 1 diabetes. Notably, in both male and female patients, G6PD deficiency was significantly linked to specific conditions, such as SLE, juvenile arthritis, and congenital heart disease. 2. Our findings indicate that G6PD deficiency is not merely an enzymatic defect but may also impact the immune and cardiovascular systems. Specifically, an increased incidence of congenital heart disease has been observed in children with G6PD deficiency for the first time.
摘要

背景

本研究调查葡萄糖-6-磷酸脱氢酶(G6PD)缺乏与儿童常见疾病易感性之间的关系。

方法

对2019年1月至2024年3月在广州妇女儿童医疗中心接受G6PD筛查的住院儿童进行回顾性分析。

结果

在36619名儿童中,男性有20662名。男性G6PD缺乏的患病率在肾炎(比值比[OR]2.43,95%置信区间[CI]1.45 - 4.21)、过敏性紫癜(OR 2.24,95%CI 1.24 - 4.09)、动脉导管未闭(OR 2.04,95%CI 1.32 - 3.33)、房间隔缺损(OR 2.14,95%CI 1.41 - 3.45)、室间隔缺损(OR 1.73,95%CI 1.12 - 2.80)和1型糖尿病(OR 2.04,95%CI 1.16 - 3.66)等疾病中显著更高。在15957名女性患者中,G6PD缺乏的患病率在系统性红斑狼疮(SLE)(OR 1.87,95%CI 1.27 - 2.70)、幼年型关节炎(OR 1.79,95%CI 1.16 - 2.68)、肾炎(OR 1.72,95%CI 1.16 - 2.49)、动脉导管未闭(OR 1.27,95%CI 1.00 - 1.61)、房间隔缺损(OR 1.33,95%CI 1.10 - 1.61)和室间隔缺损(OR 1.55,95%CI 1.26 - 1.91)中显著升高。

结论

G6PD缺乏可能增加儿童患自身免疫性疾病、先天性心脏病和1型糖尿病的风险。需要进一步研究以阐明其在儿童疾病易感性中的作用并为临床管理提供依据。

影响

  1. 本研究发现G6PD缺乏与几种常见儿童疾病的易感性增加显著相关,包括自身免疫性疾病、先天性心脏病和1型糖尿病。值得注意的是,在男性和女性患者中,G6PD缺乏都与特定疾病显著相关,如SLE、幼年型关节炎和先天性心脏病。2. 我们的研究结果表明,G6PD缺乏不仅是一种酶缺陷,还可能影响免疫和心血管系统。具体而言,首次观察到G6PD缺乏儿童先天性心脏病的发病率增加。

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