Varhaug Kristin N, Hikmat Omar, Bindoff Laurence A
Nevrologisk avdeling, Haukeland universitetssjukehus, og, Klinisk institutt 1, Universitetet i Bergen.
Seksjon for barnenevrologi, Barne- og ungdomsklinikken, Haukeland universitetssjukehus, og, Klinisk institutt 1, Universitetet i Bergen.
Tidsskr Nor Laegeforen. 2022 Jun 27;142(10). doi: 10.4045/tidsskr.21.0729. Print 2022 Jun 28.
Mitochondrial disease is among the most commonly occurring metabolic disorders and is relevant for many medical specialties. This clinical review article discusses one of the most common mutations causing mitochondrial disease, namely m.3243A>G. The mutation can lead to diabetes mellitus, hearing loss, cardiac and muscle involvement, encephalopathy and epilepsy, gastric and intestinal problems and visual impairment, frequently in combination. Better knowledge of mitochondrial disease caused by the m.3243A>G mutation would improve both the diagnosis and treatment of patients who may suffer from a serious and life-threatening disease.
线粒体疾病是最常见的代谢紊乱疾病之一，与许多医学专科相关。这篇临床综述文章讨论了导致线粒体疾病的最常见突变之一，即m.3243A>G。该突变可导致糖尿病、听力丧失、心脏和肌肉受累、脑病和癫痫、胃肠道问题以及视力损害，且这些症状常常同时出现。更好地了解由m.3243A>G突变引起的线粒体疾病，将改善对可能患有严重且危及生命疾病的患者的诊断和治疗。
