Martikainen Mika H, Majamaa Kari
Research Unit of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland.
Neurocenter and Medical Research Center, Oulu University Hospital, Oulu, Finland.
BMJ Neurol Open. 2024 Feb 14;6(1):e000546. doi: 10.1136/bmjno-2023-000546. eCollection 2024.
Mitochondrial diseases are common inherited metabolic disorders. Due to improved case ascertainment and diagnosis methods, the detection of new diagnoses of mitochondrial disease can be expected to increase. In December 2009, the prevalence of mitochondrial DNA (mtDNA)-related mitochondrial disease was 4.6/100 000 (95% CI, 2.7 to 7.2) in the adult population of Southwest Finland. We investigated the number of new diagnoses and the incidence of mitochondrial disease in Southwest Finland between December 2009 and December 2022.
We collected data on all adult patients from Southwest Finland diagnosed with mitochondrial disease on 31 December 2009 and 31 December 2022. Most patients had been diagnosed at the Turku University Hospital (TUH) neurology outpatient clinic. Patients were also identified by searching the TUH electronic patient database for relevant International Classification of Diseases, Tenth Revision codes and conducted mtDNA analyses.
42 new patients were diagnosed giving a mean annual rate of 3.2 new diagnoses. In 2022, the minimum prevalence estimate of adult mtDNA-related mitochondrial disease was 9.2/100 000 (95% CI, 6.5 to 12.7). The prevalence of adult mtDNA disease associated with m.3243A>G was 4.2/100 000 (95% CI, 2.5 to 6.7), and that with large-scale mtDNA deletions was 1.3/100 000 (95% CI, 0.4 to 2.9). During the 13-year period, the annual incidence of adult mtDNA disease was 0.6/100 000 and that of adult m.3243A>G-related disease 0.3/100 000.
Our results suggest that improved means of diagnostics and dedicated effort increase the detection of mitochondrial disease.
线粒体疾病是常见的遗传性代谢紊乱疾病。由于病例确诊和诊断方法的改进，预计线粒体疾病新诊断病例的检出率将会增加。2009年12月，芬兰西南部成年人群中线粒体DNA（mtDNA）相关线粒体疾病的患病率为4.6/10万（95%置信区间，2.7至7.2）。我们调查了2009年12月至2022年12月期间芬兰西南部线粒体疾病的新诊断病例数和发病率。
我们收集了2009年12月31日和2022年12月31日在芬兰西南部被诊断为线粒体疾病的所有成年患者的数据。大多数患者在图尔库大学医院（TUH）神经科门诊被诊断。还通过在TUH电子患者数据库中搜索相关的国际疾病分类第十版编码并进行mtDNA分析来识别患者。
确诊了42例新患者，平均每年有3.2例新诊断病例。2022年，成年mtDNA相关线粒体疾病的最低患病率估计为9.2/10万（95%置信区间，6.5至12.7）。与m.3243A>G相关的成年mtDNA疾病患病率为4.2/10万（95%置信区间，2.5至6.7），与大规模mtDNA缺失相关的患病率为1.3/10万（95%置信区间，0.4至2.9）。在这13年期间，成年mtDNA疾病的年发病率为0.6/10万，与m.3243A>G相关的成年疾病年发病率为0.3/10万。
我们的结果表明，诊断方法的改进和专门的努力增加了线粒体疾病的检出率。
