Sorenson Eric J, Klein Christopher J
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Amyotroph Lateral Scler. 2007 Feb;8(1):62-4. doi: 10.1080/17482960600765040.
X-linked spinal and bulbar muscular atrophy (SBMA or Kennedy's disease) has a variable prognosis. Most male carriers are affected by their fourth or fifth decade of life, while some remain asymptomatic lifelong. Elevations of serum creatine kinase are well known to occur in clinically manifesting SBMA patients. Elevations prior to the onset of the clinical syndrome have not been reported. Here we report two cases of SBMA presenting with 'idiopathic' elevations of serum transaminases and creatine kinase a decade in advance of their symptomatic onset. These cases emphasize the need to consider SBMA and genetic testing for the androgen receptor trinucleotide CAG expansion in males otherwise healthy with 'idiopathic' elevated creatinine kinase.
X连锁脊髓和延髓肌萎缩症(SBMA或肯尼迪病)的预后各不相同。大多数男性携带者在40或50岁时受到影响,而有些人终身无症状。血清肌酸激酶升高在临床症状明显的SBMA患者中很常见。临床综合征发作前的升高情况尚未见报道。在此,我们报告两例SBMA患者,其血清转氨酶和肌酸激酶“特发性”升高,比症状发作提前了十年。这些病例强调,对于肌酸激酶“特发性”升高的健康男性,需要考虑SBMA并进行雄激素受体三核苷酸CAG扩增的基因检测。