Gullotta F, Spiess-Kiefer C
Anasth Intensivther Notfallmed. 1983 Feb;18(1):21-7.
Muscle biopsies were carried out in 41 patients with malignant hyperthermia, or supposed at-risk, as well as in some of their relatives. In 20 patients no changes were detected, and in 2 patients only acute rhabdomyolysis was seen (53.7%); in 19 patients (that is 46.3%) myopathic aspects were found in form of minimal changes, but also of syndrome-like tissue alterations (e.g. core disease, muscle dystrophy). These results confirm the existence of a morphologically detectable "subclinical myopathy" in about half of our patients. Four cases apt to demonstrate the variability, and the large morphological spectrum of these "myopathies" within the same family are described. In children, morphological changes are often missing. Carriers of such "subclinical myopathies" are occurring probably more frequently than supposed. Their identification in time is difficult, the only reliable methods being pharmacological fiber contraction-tests which can be performed in special laboratories only. A raw screening of patients-at-risk may be, however, achieved by exact anamnestic investigations and preoperative CPK-controls. Individuals suffering from paroxysmal myoglobinuria at any rate have to be considered patients at-risk.
对41例恶性高热患者或疑似有风险的患者及其部分亲属进行了肌肉活检。20例患者未检测到变化,2例仅见急性横纹肌溶解(53.7%);19例患者(即46.3%)发现有肌病表现,形式为轻微变化以及类似综合征的组织改变(如核心疾病、肌肉营养不良)。这些结果证实了在我们大约一半的患者中存在形态学上可检测到的“亚临床肌病”。描述了4个病例,用以说明这些“肌病”在同一家族中的变异性和广泛的形态学谱。在儿童中,形态学变化往往缺失。此类“亚临床肌病”的携带者可能比预期的更为常见。及时识别它们很困难,唯一可靠的方法是药理学纤维收缩试验,且只能在特殊实验室进行。然而,通过精确的病史调查和术前肌酸磷酸激酶(CPK)检测,可以对有风险的患者进行初步筛查。无论如何,患有阵发性肌红蛋白尿的个体都必须被视为有风险的患者。