代谢性肌病与呼吸系统

Metabolic Myopathies and the Respiratory System.

机构信息

Department of Respiratory, Critical Care, and Sleep Medicine, University of Tennessee College of Medicine Chattanooga, Erlanger Health System, 975 East 3rd Street, C-735, Chattanooga, TN 37403, USA.

出版信息

Clin Chest Med. 2018 Jun;39(2):401-410. doi: 10.1016/j.ccm.2018.02.001.

DOI:10.1016/j.ccm.2018.02.001

PMID:29779598

Abstract

Metabolic myopathies are a heterogeneous group of disorders characterized by inherited defects of enzymatic pathways involved in muscle cellular energetics and adenosine triphosphate synthesis. Skeletal and respiratory muscles are most affected. There are multiple mechanisms of disease. The age of onset and prognosis vary. Metabolic myopathies cause exercise intolerance, myalgia, and increase in muscle breakdown products during exercise. Some affect smooth muscle like the diaphragm and cause respiratory failure. The pathophysiology is complex and the evidence in literature to guide diagnosis and management is sparse. Treatment is limited. This review discusses the pathophysiology and diagnostic evaluation of these disorders.

摘要

代谢性肌病是一组异质性疾病，其特征为肌肉细胞能量代谢和三磷酸腺苷合成相关酶途径的遗传性缺陷。骨骼肌和呼吸肌最易受累。疾病的发病机制多样，发病年龄和预后各异。代谢性肌病导致运动不耐受、肌肉疼痛以及运动过程中肌肉分解产物增加。有些影响平滑肌，如膈肌，并导致呼吸衰竭。其病理生理学较为复杂，文献中指导诊断和治疗的证据较为匮乏。治疗方法有限。本文讨论了这些疾病的病理生理学和诊断评估。