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本文报道脑干听觉诱发电位(auditory brainstem response-ABR)在小儿遗传病中的表现。在染色体病、单基因病和其他遗传性疾病中均可见到峰间期、潜伏期、振幅、听阈以及增加刺激重复率后等ABR异常改变。并对先天愚型作3月至2年及小头畸形作了3～17月的随访观察,从ABR上发现这些患者在生后仍有一定程度的继续脑发育。对粘多糖病,Q-T延长综合征作了ABR家系观察、杂合子检测,发现有听阈及ABR波型改变。1例粘多糖病患者在临床典型症状出现前6个月的家系ABR调查中,ABR已显示异常改变。先天性甲状腺功能低下及苯丙酮尿症的治疗早晚的ABR对比观察,可作为疗效随访和追踪观察的客观指标。初步认为,ABR对这些疾病的脑电生理的探讨、随访观察、疗效评估、杂合子检测和家族中患者的早期发现有一定的价值,是遗传医学临床工作中一种值得进一步研究的辅助检查方法。
This article reports the brainstem auditory evoked potentials (auditory brainstem response-ABR) in children with genetic disease performance. In chromosomal disease, monogenic disease and other genetic diseases can be seen in the peak interval, latency, amplitude, hearing threshold and increased stimulation of ABR abortion and other abnormal changes. And for Down’s syndrome for March to 2 years and microcephaly for 3 months to 17 months were observed from the ABR found that these patients still have a certain degree of continued brain development after birth. For mucopolysaccharidosis, Q-T extended syndrome was observed in ABR pedigrees, heterozygous test, found that the auditory threshold and ABR wave pattern changes. In one case of mucopolysaccharidosis, the ABR has been shown to be abnormally altered in the pedigree ABR surveys 6 months before the onset of clinically typical symptoms. Congenital hypothyroidism and phenylketonuria treatment of early and late ABR comparative observation, can be used as a follow-up and follow-up observation of the objective indicators. Preliminary thought, ABR on these diseases, electrophysiological studies, follow-up observation, efficacy evaluation, detection of heterozygotes and early detection of patients with family has some value, is a genetic medicine in clinical work worthy of further study of auxiliary examination .