Obiective:To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleukodystrophy(X-ALD).Methods:Clinical features of 40 Chinese patients with X-ALD were studied and m...Obiective:To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleukodystrophy(X-ALD).Methods:Clinical features of 40 Chinese patients with X-ALD were studied and mutation spectrums were investigated by polymerase chain reaction (PCR) and sequencing. Results:Among these patients, four were siblings from two unrelated families, the others were unrelated. There were 31 cases with childhood cerebral (CCALD), 8 cases with adolescent cerebral (ACALD) and 1 case with adrenomyeloneuropathy (AMN). Visual impairment, which presented in 12 cases (30%), was the most common initial symptom. Nine (69%) of 13 cases who had hydrocortisone and ACTH measured showed adrenal insufficiency. By follow-up date, 19 cases (47.5%) were dead. The interval from onset to death varied from 1 to 6 years and the average were 3.3 years. The mean age at death was 10.5 years. Eleven cases (27.5%) were in vegetable state. The mean interval from onset to apparently vegetable state was 2.8 years (range from 1 to 6 years). Four cases had progressive neurological disability. Four cases were lost follow-up. One case with CCALD and one case with ACALD progressed slowly. The courses of the disease of these two patients were 5 years and 15 years respectively. Thirty five mutations were identified in 40 cases. Most were located within exon 1-3 (40%, 16/40) and exon 6-8 (42%, 17/40). There is a distinct clustering of missense mutations in exon 6 (17%, 7/40). Five types of mutations were associated with CCALD, three with ACALD and a missense mutation was identified in the patients with AMN. The two patients with long disease courses had a missence mutation c.1559 T>A and a nonsense mutation c.1785 G>A respectively. The siblings with similar manifestations and onset age were observed in two families, whose mutations were c.887 A>G and c.1028 G>T. Conclusion:The phenotypes, disease severity and rate of neurodegeneration could not be predicted by the nature of mutations.展开更多
目的分析原发性癫痫患儿脑电图与血清炎性因子水平的相关性。方法将75例原发性癫痫患儿根据癫痫发作情况分为癫痫频发组、癫痫持续状态组、非癫痫频发非持续状态组各25例。另选取同期30例健康体检儿童作为对照组。观察对照组和癫痫患儿...目的分析原发性癫痫患儿脑电图与血清炎性因子水平的相关性。方法将75例原发性癫痫患儿根据癫痫发作情况分为癫痫频发组、癫痫持续状态组、非癫痫频发非持续状态组各25例。另选取同期30例健康体检儿童作为对照组。观察对照组和癫痫患儿血清高迁移率族蛋白B1(high-mobility group protein box-1,HMGB1)、白细胞介素2(interleukin-2,IL-2)、白细胞介素6(interleukin-6,IL-6)、肿瘤坏死因子α(tumor necrosis factor-alpha,TNF-α)水平及脑电图检查结果。结果癫痫患儿HMGB1、IL-2、IL-6、TNF-α及脑电图异常率均明显高于健康对照组(P<0.05),癫痫持续状态组、癫痫频发组血清HMGB1、IL-2、IL-6、TNF-α水平均高于非癫痫频发非持续状态组(P<0.05);脑电图癫痫样放电组及慢波异常组血清中HMGB1、IL-2、IL-6、TNF-α水平明显高于脑电图正常及界线性组(P<0.05),脑电图癫痫样放电组血清中HMGB1、IL-2、IL-6、TNF-α水平明显高于脑电图慢波异常组(P<0.05)。结论血清HMGB1、IL-2、IL-6、TNF-α是影响原发性癫痫患儿病情的重要炎性因子,脑电图异常改变与炎症因子表达水平呈正相关。展开更多
文摘Obiective:To elucidate the phenotype and the genotype-phenotype correlations in Chinese patients with X-linked adrenoleukodystrophy(X-ALD).Methods:Clinical features of 40 Chinese patients with X-ALD were studied and mutation spectrums were investigated by polymerase chain reaction (PCR) and sequencing. Results:Among these patients, four were siblings from two unrelated families, the others were unrelated. There were 31 cases with childhood cerebral (CCALD), 8 cases with adolescent cerebral (ACALD) and 1 case with adrenomyeloneuropathy (AMN). Visual impairment, which presented in 12 cases (30%), was the most common initial symptom. Nine (69%) of 13 cases who had hydrocortisone and ACTH measured showed adrenal insufficiency. By follow-up date, 19 cases (47.5%) were dead. The interval from onset to death varied from 1 to 6 years and the average were 3.3 years. The mean age at death was 10.5 years. Eleven cases (27.5%) were in vegetable state. The mean interval from onset to apparently vegetable state was 2.8 years (range from 1 to 6 years). Four cases had progressive neurological disability. Four cases were lost follow-up. One case with CCALD and one case with ACALD progressed slowly. The courses of the disease of these two patients were 5 years and 15 years respectively. Thirty five mutations were identified in 40 cases. Most were located within exon 1-3 (40%, 16/40) and exon 6-8 (42%, 17/40). There is a distinct clustering of missense mutations in exon 6 (17%, 7/40). Five types of mutations were associated with CCALD, three with ACALD and a missense mutation was identified in the patients with AMN. The two patients with long disease courses had a missence mutation c.1559 T>A and a nonsense mutation c.1785 G>A respectively. The siblings with similar manifestations and onset age were observed in two families, whose mutations were c.887 A>G and c.1028 G>T. Conclusion:The phenotypes, disease severity and rate of neurodegeneration could not be predicted by the nature of mutations.
文摘目的分析原发性癫痫患儿脑电图与血清炎性因子水平的相关性。方法将75例原发性癫痫患儿根据癫痫发作情况分为癫痫频发组、癫痫持续状态组、非癫痫频发非持续状态组各25例。另选取同期30例健康体检儿童作为对照组。观察对照组和癫痫患儿血清高迁移率族蛋白B1(high-mobility group protein box-1,HMGB1)、白细胞介素2(interleukin-2,IL-2)、白细胞介素6(interleukin-6,IL-6)、肿瘤坏死因子α(tumor necrosis factor-alpha,TNF-α)水平及脑电图检查结果。结果癫痫患儿HMGB1、IL-2、IL-6、TNF-α及脑电图异常率均明显高于健康对照组(P<0.05),癫痫持续状态组、癫痫频发组血清HMGB1、IL-2、IL-6、TNF-α水平均高于非癫痫频发非持续状态组(P<0.05);脑电图癫痫样放电组及慢波异常组血清中HMGB1、IL-2、IL-6、TNF-α水平明显高于脑电图正常及界线性组(P<0.05),脑电图癫痫样放电组血清中HMGB1、IL-2、IL-6、TNF-α水平明显高于脑电图慢波异常组(P<0.05)。结论血清HMGB1、IL-2、IL-6、TNF-α是影响原发性癫痫患儿病情的重要炎性因子,脑电图异常改变与炎症因子表达水平呈正相关。
