Dumbuya John Sieh, Zeng Cizheng, Deng Lin, Li Yuanglong, Chen Xiuling, Ahmad Bashir, Lu Jun
Department of Paediatrics, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
Department of Paediatrics, The 958 Hospital of the People's Liberation Army, Chongqing, China.
Front Public Health. 2025 Mar 24;13:1531583. doi: 10.3389/fpubh.2025.1531583. eCollection 2025.
Rare diseases, also known as orphan diseases, are a group of disorders that affect a small percentage of the population. Despite individually affecting a small number of people, collectively, they impact millions worldwide. This is particularly significant in paediatric patients, highlighting the global scale of the issue. This review delves into the exact prevalence of rare diseases among children and adolescents and their diverse impact on the quality of life of patients and their families. The review sheds light on the complex interplay of genetic and environmental factors contributing to these conditions and the diagnostic challenges and delays often encountered in identifying and categorising these diseases. It is noted that although there have been significant strides in the field of genomic medicine and the development of orphan drugs, effective treatments remain limited. This necessitates a comprehensive, multidisciplinary approach to management involving various specialities working closely together to provide holistic care. Furthermore, the review addresses the psychosocial and economic burdens faced by families with paediatric patients suffering from rare diseases, highlighting the urgent need for enhanced support mechanisms. Recent technological and therapeutic advancements, including genomic sequencing and personalized medicine, offer promising avenues for improving patient outcomes. Additionally, the review underscores the role of policy and advocacy in advancing research, ensuring healthcare access, and supporting affected families. It emphasises the importance of increased awareness, education, and collaboration among healthcare providers, researchers, policymakers, and patient advocacy groups. It stresses the pivotal role each group plays in improving the diagnosis, treatment, and overall quality of life for paediatric patients with rare diseases.
罕见病，也被称为孤儿病，是一组影响人口比例较小的疾病。尽管每种罕见病影响的人数较少，但总体而言，它们在全球范围内影响着数百万人。这在儿科患者中尤为显著，凸显了该问题的全球规模。本综述深入探讨了儿童和青少年中罕见病的确切患病率及其对患者及其家庭生活质量的多方面影响。该综述揭示了导致这些疾病的遗传和环境因素之间复杂的相互作用，以及在识别和分类这些疾病时经常遇到的诊断挑战和延误。值得注意的是，尽管基因组医学领域和孤儿药的开发取得了重大进展，但有效的治疗方法仍然有限。这就需要一种全面的、多学科的管理方法，涉及各个专业紧密合作以提供全面的护理。此外，该综述探讨了患有罕见病的儿科患者家庭所面临的心理社会和经济负担，强调了加强支持机制的迫切需求。包括基因组测序和个性化医疗在内的近期技术和治疗进展为改善患者预后提供了有希望的途径。此外，该综述强调了政策和宣传在推进研究、确保医疗服务可及性以及支持受影响家庭方面的作用。它强调了医疗服务提供者、研究人员、政策制定者和患者权益倡导组织之间提高认识、加强教育与合作的重要性。它强调了每个群体在改善患有罕见病的儿科患者的诊断、治疗和总体生活质量方面所发挥的关键作用。
