Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.

IF 3.4 2区医学 Q2 GENETICS & HEREDITY Orphanet Journal of Rare Diseases Pub Date : 2024-08-02 DOI:10.1186/s13023-024-03289-5

Xutong Zhao, Meng Yu, Wei Zhang, Yue Hou, Yun Yuan, Zhaoxia Wang

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Abstract

Background: This study aimed to explore the demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases.

Methods: This retrospective cross-sectional study enrolled patients diagnosed with mitochondrial diseases from the Department of Neurology at Peking University First Hospital between January 2010 and December 2021. A questionnaire covering demographic characteristics, diagnostic dilemma, treatment, economic aspects, and caregiver stress was administered, and disability was assessed using the modified Rankin Scale (mRS).

Results: A total of 183 patients (mean age: 16 (IQR: 12-25), 49.72% males) were enrolled, including 124 pediatric patients and 59 adult patients. MELAS (106. 57.92%) and Leigh syndrome (37, 20.22%) were predominant among the mitochondrial disease subtypes. Among them, 132 (72.13%) patients were initially misdiagnosed with other diseases, 58 (31.69%) patients visited 2 hospitals before confirmed as mitochondrial disease, and 39 (21.31%) patients visited 3 hospitals before confirmed as mitochondrial disease. Metabolic modifiers were the most common type of drugs used, including several dietary supplements such as L-carnitine (117, 63.93%), Coenzyme Q10 (102, 55.74%), idebenone (82, 44.81%), and vitamins (99, 54.10%) for proper mitochondrial function. Mothers are the primary caregivers for both children (36.29%) and adults (38.98%). The mRS score ranged from 0 to 5, 92.35% of the patients had different degrees of disability due to mitochondrial disease. The average monthly treatment cost was 3000 RMB for children and 3100 RMB for adults.

Conclusions: This study provided valuable insights into the characteristics and challenges of mitochondrial diseases, which underscores the need for improved awareness, diagnostic efficiency, and comprehensive support for patients and caregivers.

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线粒体疾病的人口特征、诊断难题、治疗模式和护理负担：一项回顾性横断面研究。

背景：本研究旨在探讨线粒体疾病的人口特征、诊断挑战、治疗模式和护理负担：本研究旨在探讨线粒体疾病的人口统计学特征、诊断难题、治疗模式和护理负担：这项回顾性横断面研究纳入了 2010 年 1 月至 2021 年 12 月期间北京大学第一医院神经内科确诊的线粒体疾病患者。调查问卷涵盖人口学特征、诊断困境、治疗、经济问题和护理压力，并使用改良Rankin量表（mRS）评估残疾情况：共有 183 名患者（平均年龄：16 岁（IQR：12-25 岁），49.72% 为男性）入组，其中包括 124 名儿童患者和 59 名成人患者。线粒体疾病亚型中以 MELAS（106 例，占 57.92%）和 Leigh 综合征（37 例，占 20.22%）为主。其中，132 例（72.13%）患者最初被误诊为其他疾病，58 例（31.69%）患者在被确诊为线粒体疾病前就诊于 2 家医院，39 例（21.31%）患者在被确诊为线粒体疾病前就诊于 3 家医院。代谢调节剂是最常用的药物类型，其中包括几种膳食补充剂，如左旋肉碱（117，63.93%）、辅酶 Q10（102，55.74%）、依地苯酮（82，44.81%）和维生素（99，54.10%），以促进线粒体功能的正常发挥。母亲是儿童（36.29%）和成人（38.98%）的主要照顾者。mRS 评分从 0 到 5 分不等，92.35% 的患者因线粒体疾病导致不同程度的残疾。儿童和成人的月平均治疗费用分别为 3000 元和 3100 元：这项研究为了解线粒体疾病的特点和面临的挑战提供了有价值的见解，强调了提高对线粒体疾病的认识、提高诊断效率以及为患者和护理人员提供全面支持的必要性。

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

Orphanet Journal of Rare Diseases 医学-医学：研究与实验

CiteScore

6.30

自引率

8.10%

发文量

418

审稿时长

4-8 weeks

期刊介绍： Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.