人口统计学特征、诊断挑战、治疗模式和线粒体疾病的照护者负担：一项回顾性横断面研究。

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

机构信息

Department of Neurology, Beijing Jishuitan Hospital, Capital Medical University, Beijing, 102208, China.

Department of Neurology, Peking University First Hospital, Beijing, 100034, China.

出版信息

Orphanet J Rare Dis. 2024 Aug 2;19(1):287. doi: 10.1186/s13023-024-03289-5.

DOI:10.1186/s13023-024-03289-5

PMID:39095827

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11297657/

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.

摘要

背景

本研究旨在探讨线粒体疾病的人口统计学特征、诊断挑战、治疗模式和照护者负担。

方法

本回顾性横断面研究纳入了 2010 年 1 月至 2021 年 12 月期间在北京大学第一医院神经内科确诊的线粒体疾病患者。我们使用一份包含人口统计学特征、诊断困境、治疗、经济方面和照护者压力的问卷进行调查，并使用改良 Rankin 量表（mRS）评估残疾程度。

结果

共纳入 183 例患者（平均年龄：16（IQR：12-25）岁，男性占 49.72%），包括 124 例儿科患者和 59 例成年患者。线粒体疾病亚型中以 MELAS（106.57.92%）和 Leigh 综合征（37 例，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%）患者在确诊为线粒体疾病前就诊于 2 家医院，39 例（21.31%）患者就诊于 3 家医院。代谢调节剂是最常用的药物类型，包括几种膳食补充剂，如左旋肉碱（117 例，63.93%）、辅酶 Q10（102 例，55.74%）、艾地苯醌（82 例，44.81%）和维生素（99 例，54.10%），以维持适当的线粒体功能。母亲是儿童（36.29%）和成人（38.98%）患者的主要照护者。mRS 评分范围为 0-5，92.35%的患者因线粒体疾病存在不同程度的残疾。儿童的平均月治疗费用为 3000 元人民币，成人的平均月治疗费用为 3100 元人民币。