胱氨酸病患者的就医历程：关注治疗依从性和疾病管理

Patient journey in cystinosis: focus on non-adherence and disease management.

作者信息

Ariceta Gema, Lalanza Simón, Peña Catalina, Martínez Montero Marta, Bezos Daleske Carlos, Acuña Álvarez Laura, Giner Elisa

机构信息

Paediatric Nephrology Department, Hospital Vall d'Hebron, Barcelona, Spain.

Instituto para la Experiencia de Paciente, Madrid, Spain.

出版信息

Drugs Context. 2024 Nov 18;13. doi: 10.7573/dic.2024-7-1. eCollection 2024.

DOI:10.7573/dic.2024-7-1

PMID:39624647

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11610563/

Abstract

BACKGROUND

Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests potential actions for improvement.

METHODS

In March 2022, six patients with nephropathic cystinosis treated with cysteamine, aged between 12 and 40 years as well as two caregivers, underwent standardized online interviews. Further, in April 2022, two online workshops were organized, each one with the participation of an advisory board consisting of up to four patients and six caregivers. As a result, the first patient journey mapping was developed considering pre-diagnosis, diagnosis and post-diagnosis steps, prescription of treatment, laboratory tests and daily life for patients, categorized by age (children, teenagers, adults). A patient support programme was also considered.

RESULTS

Patients were not completely aware of the risks associated with non-adherence. The main factors explaining poor adherence were impaired sleep and chronic fatigue, both related to cysteamine night dosing and prominent gastrointestinal symptoms. These factors have a negative impact on the daily lives of patients. Opportunities for improvement in disease management and therapeutic adherence in nephropathic cystinosis were highlighted. Consequently, a series of lines of action and suggestions were made.

CONCLUSION

This qualitative study offers insights on nephropathic cystinosis from the point of view of patients and parents/caregivers. The critical steps during patient journey and the pitfalls for therapeutic adherence have been highlighted, opening ways to improve not only disease management but also the quality of life of patients with cystinosis.A lay summary is provided as supplementary material; available at: https://www.drugsincontext.com/wp-content/uploads/2024/10/dic.2024-7-1-Suppl-Lay-Summary.pdf.

摘要

背景

很少有研究评估肾病型胱氨酸病患者报告的体验指标。本研究采用患者报告，重点关注胱氨酸病的影响、半胱胺治疗相关问题和治疗依从性，并提出了潜在的改进措施。

方法

2022年3月，对6名接受半胱胺治疗的肾病型胱氨酸病患者（年龄在12至40岁之间）以及2名护理人员进行了标准化的在线访谈。此外，2022年4月组织了两次在线研讨会，每次研讨会都有一个由多达4名患者和6名护理人员组成的咨询委员会参与。结果，制定了首个患者旅程地图，考虑了诊断前、诊断和诊断后步骤、治疗处方、患者的实验室检查和日常生活，并按年龄（儿童、青少年、成人）进行了分类。还考虑了一个患者支持计划。

结果

患者并未完全意识到不依从治疗所带来的风险。导致依从性差的主要因素是睡眠障碍和慢性疲劳，这两者都与半胱胺夜间给药以及明显的胃肠道症状有关。这些因素对患者的日常生活产生了负面影响。突出了肾病型胱氨酸病在疾病管理和治疗依从性方面的改进机会。因此，提出了一系列行动方针和建议。

结论

这项定性研究从患者以及父母/护理人员的角度提供了关于肾病型胱氨酸病的见解。突出了患者旅程中的关键步骤以及治疗依从性方面的陷阱，为不仅改善疾病管理而且提高胱氨酸病患者的生活质量开辟了道路。作为补充材料提供了一份通俗易懂的总结；可在以下网址获取：https://www.drugsincontext.com/wp-content/uploads/2024/10/dic.2024-7-1-Suppl-Lay-Summary.pdf 。