Karaa Amel, Goldstein Amy
Neurogenetics Clinic, Neurology and Clinical Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Pediatr Diabetes. 2015 Feb;16(1):1-9. doi: 10.1111/pedi.12223. Epub 2014 Oct 20.
Primary mitochondrial diseases refer to a group of heterogeneous and complex genetic disorders affecting 1:5000 people. The true prevalence is anticipated to be even higher because of the complexity of achieving a diagnosis in many patients who present with multisystemic complaints ranging from infancy to adulthood. Diabetes is a prominent feature of several of these disorders which might be overlooked by the endocrinologist. We here review mitochondrial disorders and describe the phenotypic and pathogenetic differences between mitochondrial diabetes mellitus (mDM) and other more common forms of diabetes mellitus.
原发性线粒体疾病是指一组影响着每5000人中就有1人的异质性和复杂性遗传疾病。由于许多患有从婴儿期到成年期多系统症状的患者在诊断上存在复杂性，预计其实际患病率会更高。糖尿病是其中几种疾病的突出特征，可能会被内分泌科医生忽视。我们在此回顾线粒体疾病，并描述线粒体糖尿病（mDM）与其他更常见糖尿病形式之间的表型和发病机制差异。
