Emergencies in Neuromuscular Disorders
Emergencies in Neuromuscular Disorders
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神经肌肉疾病的紧急情况
DOI：
10.1007/978-3-030-91932-0_13
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发表时间：
2022
期刊：
影响因子：
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通讯作者：
Van Den Ameele J
中科院分区：
文献类型：
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作者：
Van Den Ameele J
线粒体疾病影响儿童和成人，具有广泛的临床表现，从轻度慢性进行性眼外肌麻痹到严重的危及生命的多系统疾病。当患者入住ICU时，他们不一定有线粒体疾病的预先诊断。建立线粒体疾病的诊断是重要的，因为它可以有治疗和预后的影响。患者通常会出现呼吸无力、心肌病或心律失常、导致营养不良和假性梗阻的胃肠道问题、骨髓衰竭或糖尿病。此外，线粒体功能障碍将进一步增加许多其他身体系统在面临急性疾病时的脆弱性。由于心肌病或心律失常引起的心脏代偿失调，以及急性脑事件如癫痫发作或卒中样发作（癫痫介导的）是公认的，并且是线粒体疾病患者死亡的主要原因。肾衰竭、急性肝衰竭、呼吸衰竭、脑病伴中枢性呼吸抑制、乳酸血症以及糖尿病、甲状腺功能减退症和甲状腺功能亢进症、肾上腺功能不全或甲状旁腺功能减退症等内分泌失调，都可能进一步导致住院线粒体疾病患者的发病率和死亡率增加。本章总结了线粒体疾病的临床表现，遗传原因和管理导致重症监护病房（ICU）入院。
Mitochondrial diseases affect both children and adults with a wide range of clinical presentations ranging from mild chronic progressive external ophthalmoparesis to severe, life-threatening multisystem diseases. When patients are admitted to an ICU, they do not necessarily have a pre-existing diagnosis of mitochondrial disease. Establishing a diagnosis of mitochondrial disease is important because it can have therapeutic and prognostic implications. Patients will often have respiratory weakness, cardiomyopathy or arrhythmia, gastrointestinal problems that lead to malnutrition and pseudo-obstruction, bone marrow failure or diabetes. In addition, mitochondrial dysfunction will further increase vulnerability of many other body systems when confronted with acute illness. Cardiac decompensation due to cardiomyopathy or arrhythmias, and acute cerebral events like seizures or stroke-like episodes (seizure-mediated) are well-recognized and are the leading causes of death in patients with mitochondrial disease. Renal failure, acute liver failure, respiratory failure, encephalopathy with central respiratory depression, lactic acidaemia, and endocrine disturbances like diabetes, hypo- and hyperthyroidism, adrenal insufficiency or hypoparathyroidism, may all further contribute to the significant morbidity and increased mortality in hospitalized patients with mitochondrial disease. This chapter summarizes the clinical presentation, genetic cause and management of mitochondrial diseases leading to intensive care unit (ICU) admission.