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目的研究 X 连锁肾上腺脑白质营养不良(X-ALD)患者的临床特征、基因突变模式及基因型/临床表型关系。方法对89例 X-ALD 患者的病例资料进行综合分析。应用 PCR 扩增和DNA 直接测序方法对其中53例进行 ABCD1基因突变分析。结果 89例患者中,儿童脑型60例(发病年龄2～10岁,平均6.5岁,占67.4%),青少年脑型18例(发病年龄11～19岁,平均12岁,占20.2%),肾上腺脊髓神经病型7例(发病年龄6～39.5岁,平均23岁,占7.0%),单纯艾迪生病2例,无症状者2例。临床表型以儿童脑型最常见。首发症状以视力、听力下降最常见。在53例患者中发现45种不同类型的 ABCD1基因突变,以错义突变为主。国外突变“热点”即外显子5的突变1415delAG 不是中国人群的突变热点。同样突变可以导致截然不同的临床表型,即使同一家系也存在不同临床表型的患者。同样表型也可以由截然不同的基因突变所致。结论中国 X-ALD 患者的表型分布、首发症状、基因突变模式等方面与国外报道不完全相同。基因型和临床表型无明确相关性。
Objective To investigate the clinical features, gene mutation patterns and genotype / clinical phenotype in patients with X-linked adrenoleukodystrophy (X-ALD). Methods A total of 89 cases of X-ALD patients were analyzed. ABCD1 gene mutation analysis was performed on 53 of them by PCR amplification and DNA direct sequencing. Results Among the 89 patients, there were 60 cases of cerebral brains in children (age 2 to 10 years old, average 6.5 years old, accounting for 67.4%), adolescents’ brains 18 cases (age ranged from 11 to 19 years, averaged 20.2%), 7 cases of adrenal spinal cord neuropathy (age of onset of 6 to 39.5 years, mean 23 years, accounting for 7.0%), 2 cases of simple Addison’s disease, asymptomatic in 2 cases. Clinical phenotype in children with brain most common. The first symptom to visual acuity, hearing loss is the most common. In 53 patients, 45 different types of ABCD1 gene mutations were found, mainly missense mutations. Foreign mutations “hot spots ” mutations in exon 5 1415delAG is not a hot mutation in the Chinese population. The same mutation can lead to a completely different clinical phenotype, even in the same family there are different clinical phenotypes of patients. The same phenotype can also be caused by a completely different genetic mutation. Conclusion The distribution of phenotypes, the first symptom and the mode of gene mutation in Chinese patients with X-ALD are not exactly the same as those reported in foreign countries. No clear correlation between genotype and clinical phenotype.