Brunetti Valerio, Della Marca Giacomo, Servidei Serenella, Primiano Guido
Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy.
Curr Neurol Neurosci Rep. 2021 May 5;21(7):30. doi: 10.1007/s11910-021-01121-2.
We aim to summarize the sleep disorders reported in patients affected by primary mitochondrial dysfunctions and describe the association with their clinical and molecular characteristics.
Sleep complaints are prevalent in mitochondrial disorders. Sleep-disordered breathing is the main sleep disorder reported in mitochondrial diseases. OSA and CSA are, respectively, more frequently associated with patients characterized by the prevalent involvement of the skeletal muscle and the predominant involvement of the central nervous system. Other sleep disorders, such as restless legs syndrome, have been rarely described. Sleep disorders are frequently associated with primary mitochondrial disorders, and the clinical phenotypes affect the type of sleep disturbance associated with the mitochondrial dysfunction. A polysomnographic study should be performed in every subject with this neurogenetic disorder both at diagnosis and during follow-up for the numerous adverse clinical outcomes associated with sleep disorders and the frailty of mitochondrial patients.
我们旨在总结原发性线粒体功能障碍患者中报告的睡眠障碍，并描述其与临床和分子特征的关联。
睡眠问题在线粒体疾病中很普遍。睡眠呼吸障碍是线粒体疾病中报告的主要睡眠障碍。阻塞性睡眠呼吸暂停（OSA）和中枢性睡眠呼吸暂停（CSA）分别更常与以骨骼肌普遍受累和中枢神经系统主要受累为特征的患者相关。其他睡眠障碍，如不宁腿综合征，很少被描述。睡眠障碍常与原发性线粒体疾病相关，临床表型影响与线粒体功能障碍相关的睡眠障碍类型。对于每一位患有这种神经遗传性疾病的患者，在诊断时和随访期间都应进行多导睡眠图研究，因为睡眠障碍会带来众多不良临床后果，且线粒体疾病患者身体虚弱。
