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对代谢性肌病的认识

Author
Basil T Darras, MD
Section Editor
Marc C Patterson, MD, FRACP
Deputy Editor
John F Dashe, MD, PhD
Translators
张帅, 主治医师

引言

本专题将概述疑似代谢性肌病患者的评估。不同障碍的详细描述参见其他专题。 (参见“葡萄糖和糖原的遗传性代谢病概述”和“脂类与嘌呤代谢性疾病导致的代谢性肌病”和“线粒体肌病：临床特征与诊断”)

肌肉能量代谢的生物化学概述也将单独讨论。 (参见“肌肉能量代谢”)

临床表现概述

代谢性肌病引起的症状、体征和实验室异常因潜在缺陷而异。这些障碍的诊断依靠一系列发现，包括肌肉受累的类型、特异性实验室检查异常[特别是血清肌酸激酶(creatine kinase, CK)升高和出现肌红蛋白尿]、患者年龄、家族史，以及组织学与病理学检查的结果。

糖原代谢障碍 — 导致糖原贮积异常的遗传障碍称为糖原累积病。这些障碍主要是根据发现相应的酶缺陷的年代按数字编号归类(表 1)。发病年龄可从出生到成年期不等。 (参见“葡萄糖和糖原的遗传性代谢病概述”)

在存在碳水化合物代谢缺陷的患者中，肌肉症状是由短暂的等长运动(如提举重物)或由强度较缓但较持久的动力性运动(如游泳、爬楼梯或跑步)引起的。急性肌肉分解可能会导致肌红蛋白尿、痛性痉挛、以及肌肉肿胀。

               

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Literature review current through: 2017-06 . | This topic last updated: 2015-11-21.
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