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目的探讨同患假肥大型肌营养不良症(DMD)兄妹的临床以及实验室检查特点。方法对患者进行临床观察、血清酶、肌电图、心电图及心脏彩色超声检查、肌肉病理HE染色,免疫组织化学染色检测肌肉组织抗肌萎缩蛋白、utrophin的表达,用多重连接探针扩增法对抗肌萎缩蛋白基因1～79号外显子进行缺失和/或重复突变检测,利用抗肌萎缩蛋白基因的CA短串联重复序列(STR)对该家系进行STR-PCR连锁分析。结果兄妹二人符合DMD诊断,具有典型的DMD临床表现,肌酸激酶、肌酸激酶同工酶、乳酸脱氢酶、羟丁酸脱氢酶和谷草转氨酶的水平均显著高于正常值,肌电图呈肌源性损害,肌肉HE染色符合DMD,男患者的抗肌萎缩蛋白表达阴性,女患者的少量肌纤维仍可见不连续膜阳性,两患者抗肌萎缩蛋白基因的1～79号外显子未见缺失和重复突变,女患者与男患者携带相同的母源性X染色体。结论携带DMD致病基因的女性携带者可以具有临床以及实验室的典型表现,应加强对携带者的全面检查。
Objective To investigate the clinical and laboratory features of brothers and sisters with fellow hypertrophic muscular dystrophy (DMD). Methods The clinical observation, serum enzyme, electromyography, electrocardiogram and cardiac color sonography were performed. The muscle pathology HE staining and immunohistochemical staining were used to detect the expression of dystrophin and utrophin in the muscle tissues. Multiplexed probe amplification The deletion and / or repeated mutations of exon 1 to 79 of the dystrophin gene were detected, and the STR-PCR analysis of the pedigree was performed using the short tandem repeat (STR) sequence of the dystrophin gene. Results Both siblings and children were in accordance with the diagnosis of DMD and had typical DMD clinical manifestations. The levels of creatine kinase, creatine kinase, lactate dehydrogenase, hydroxybutyrate dehydrogenase and aspartate aminotransferase were significantly higher than those of normal Electromyogram showed myogenic damage, muscular HE staining in line with DMD, male patients with dystrophin expression was negative, a small number of female patients with a small number of muscle fibers are still non-continuous membrane positive, two patients with dystrophin gene exons 1 to 79 Female and male patients carried the same maternal X chromosome without deletion and repeated mutations. CONCLUSIONS: Female carriers carrying DMD-causative genes can have typical clinical and laboratory findings and should be more thoroughly checked for carriers.