背景:本研究旨在探讨人口统计学特征,诊断挑战,治疗模式,和线粒体疾病的照顾者负担。
方法:本回顾性横断面研究纳入了2010年1月至2021年12月北京大学第一医院神经内科诊断为线粒体疾病的患者。一份涵盖人口统计特征的问卷,诊断困境,治疗,经济方面,和照顾者的压力,使用改良的Rankin量表(mRS)评估残疾。
结果:共183名患者(平均年龄:16(IQR:12-25),49.72%的男性)被登记,包括124名儿科患者和59名成人患者。麦拉斯(106。57.92%)和Leigh综合征(37,20.22%)在线粒体疾病亚型中占主导地位。其中,132例(72.13%)患者最初被误诊为其他疾病,58(31.69%)患者在确认为线粒体疾病之前访问了2家医院,39例(21.31%)患者在确认为线粒体疾病之前曾去过3家医院。代谢调节剂是最常见的药物类型,包括几种膳食补充剂,如左旋肉碱(117,63.93%),辅酶Q10(102,55.74%),艾地苯醌(82,44.81%),和维生素(99,54.10%)适当的线粒体功能。母亲是儿童(36.29%)和成人(38.98%)的主要照顾者。mRS评分0~5分,92.35%的患者因线粒体疾病出现不同程度的残疾。儿童每月平均治疗费用为3000元人民币,成人为3100元人民币。
结论:这项研究为线粒体疾病的特征和挑战提供了有价值的见解,这强调了提高意识的必要性,诊断效率,以及对患者和护理人员的全面支持。
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.