Mitochondrial Medicine Center, Neurologic Institute, Cleveland Clinic, Cleveland, Ohio, USA.
Genetics Unit, Mitochondrial Disease Program, Massachusetts General Hospital, Boston, Massachusetts, USA.
J Med Genet. 2019 Mar;56(3):123-130. doi: 10.1136/jmedgenet-2018-105800. Epub 2019 Jan 25.
Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of 'possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of , together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.
原发性遗传线粒体疾病通常难以诊断，当临床怀疑此类疾病时，临床医生经常使用“可能的”线粒体疾病这一术语。现在已知有许多线粒体疾病的表型模拟。基因组检测的进展表明，一些具有临床表型和生化异常提示线粒体疾病的患者可能患有其他遗传疾病。在无法确认遗传诊断的情况下，诊断为“可能的”线粒体疾病可能会对患者及其家属造成伤害，导致焦虑，延误适当的诊断，并导致不适当的管理或护理。当无法通过遗传确认线粒体疾病时，最好对其进行分类，并对确定的代谢或遗传异常进行具体描述。
