Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Department of Laboratory Medicine, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Muscle Nerve. 2022 Mar;65(3):284-290. doi: 10.1002/mus.27451. Epub 2021 Nov 12.
We previously identified UDP-N-acetylglucosamine 2-epimerase (GNE) myopathy patients with sleep apnea and a past history of thrombocytopenia, but without disease-specific cardiac involvement. This study aimed to clarify the occurrence, severity, and serial changes of these complications.
Thirty-three genetically confirmed GNE myopathy patients who participated in a 5-y longitudinal observational history study underwent platelet count and platelet-associated immunoglobulin G (PA-IgG) measurements, a sleep study, and electrocardiography (ECG), Holter ECG, and echocardiogram examinations.
Among the 33 patients, three had low platelet counts and 17 out of 26 were PA-IgG positive. No patient exhibited bleeding tendencies, and 3 out of 28 had low platelet counts. Muscle weakness was more pronounced, and summed MMT and grip power significantly lower, in PA-IgG-positive patients than in PA-IgG-negative patients. Of 19 patients, 7, 4, and 3 who underwent a sleep study had mild, moderate, and severe sleep apnea, respectively, and three started continuous positive airway pressure (CPAP). The respiratory disturbance index was not significantly correlated with physical evaluation items or forced vital capacity. All patients underwent ECG, 32 underwent cardiac ultrasound, and 25 underwent Holter ECG. No disease-specific cardiac involvement was noted, no serial changes during the follow-up period were observed for ECG and echocardiography, and none of the patients required therapy for cardiac abnormalities.
PA-IgG is a potential disease biomarker in GNE myopathy patients, although its significance needs to be clarified. While none of the patients in this study experienced cardiomyopathy or arrythmia due to myopathy, sleep apnea was identified as a frequent complication.
我们先前鉴定了 UDP-N-乙酰葡萄糖胺 2-差向异构酶（GNE）肌病患者伴有睡眠呼吸暂停和血小板减少症病史，但无特异性心脏受累。本研究旨在阐明这些并发症的发生、严重程度和连续变化。
33 名经基因确认的 GNE 肌病患者参加了一项为期 5 年的纵向观察病史研究，进行血小板计数和血小板相关免疫球蛋白 G（PA-IgG）测量、睡眠研究以及心电图（ECG）、动态心电图（Holter ECG）和超声心动图检查。
在 33 名患者中，有 3 名血小板计数较低，26 名中有 17 名 PA-IgG 阳性。无患者表现出出血倾向，28 名中有 3 名血小板计数较低。PA-IgG 阳性患者的肌肉无力更为明显，总和 MMT 和握力明显较低。在接受睡眠研究的 19 名患者中，分别有 7、4 和 3 名患者患有轻度、中度和重度睡眠呼吸暂停，3 名患者开始接受持续气道正压通气（CPAP）治疗。呼吸紊乱指数与身体评估项目或用力肺活量无显著相关性。所有患者均接受心电图检查，32 名患者接受心脏超声检查，25 名患者接受动态心电图检查。未发现特异性心脏受累，心电图和超声心动图在随访期间无连续变化，且无患者因心脏异常需要治疗。
PA-IgG 可能是 GNE 肌病患者的潜在疾病生物标志物，但需要进一步明确其意义。尽管本研究中无患者因肌病发生心肌病或心律失常，但发现睡眠呼吸暂停是一种常见并发症。
