护理在推进罕见遗传病护理中的作用。
Nursing's Role in Advancing Care for Rare Genetic Diseases.
作者信息
Dwyer Andrew A, Somanadhan Suja
机构信息
William F. Connell School of Nursing, Boston College, Chestnut Hill, MA 20476, USA; P50 Massachusetts General Hospital - Harvard Center for Reproductive Medicine, Boston, MA, USA.
UCD School of Nursing Midwifery and Health Systems, Room B.312, UCD Health Sciences Centre, University College Dublin, Belfield, Dublin 4, Ireland.
出版信息
Nurs Clin North Am. 2025 Jun;60(2):349-368. doi: 10.1016/j.cnur.2024.12.005. Epub 2025 Mar 3.
Rare diseases (RDs) are predominantly genetic in etiology and characterized by low frequency and high medical complexity. Although individually infrequent, the cumulative public health impact of ∼7000 RDs is significant, and patients and families experience significant psychosocial burden. Health disparities stem from delays in diagnosis (diagnostic odyssey), difficulty accessing care, and lack of effective treatments. This article provides an overview of rare genetic diseases and highlights exemplar cases demonstrating nursing's role in advancing comprehensive, person-centered care for rare genetic diseases. Resources and recommendations are provided for nurses to enhance quality care for individuals and families living with RDs.
罕见病（RDs）的病因主要为遗传性，其特点是发病率低且医学复杂性高。尽管每种罕见病的发病率都很低，但约7000种罕见病对公众健康的累积影响却很大，患者及其家庭承受着巨大的心理社会负担。健康差距源于诊断延迟（诊断历程漫长）、获得医疗服务困难以及缺乏有效治疗方法。本文概述了罕见遗传病，并重点介绍了一些典型案例，展示了护理在推进针对罕见遗传病的全面、以患者为中心的护理方面的作用。还为护士提供了资源和建议，以提高对患有罕见病的个人和家庭的护理质量。
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