儿童X-连锁肾上腺脑白质营养不良39例临床特征分析  

Clinical characteristics of 39 patients with X-linked adrenoleukodystrophy

作　　者：韦紫倩 林晓滨 李淑梅 蔡燕娜[1] 邵咏贤 程静[1] 梅慧芬 郑锐丹 梁翠丽 刘鸿圣[1] 江华[1] 江敏妍 刘丽[1] WEI Ziqian;LIN Xiaobin;LI Shumei;CAI Yanna;SHAO Yongxian;CHENG Jing;MEI Huifen;ZHENG Ruidan;LIANG Cuili;LIU Hongsheng;JIANG Hua;JIANG Minyan;LIU Li(Guangzhou Women and Children’s Medical Center Affiliated to Guangzhou Medical University,Guangzhou 510623,Guangdong,China)

机构地区：[1]广州医科大学附属广州市妇女儿童医疗中心,广东广州510623

出　　处：《临床儿科杂志》2021年第11期801-804,共4页Journal of Clinical Pediatrics

基　　金：国家自然科学基金青年科学基金项目(No.81800789);广东省医学科研基金项目(No.A2019376)。

摘　　要：目的探讨儿童X-连锁肾上腺脑白质营养不良(X-ALD)的临床特征。方法回顾分析39例确诊X-ALD患儿的临床资料。结果39例男性患儿,其中儿童脑型27例,主要首发症状为智力减退、视力障碍和步态异常;单纯肾上腺型12例,10例表现为皮肤色素沉着,另2例无明显临床表现。39例患儿血浆C26:0水平均异常升高。外周血ABCD1基因检测发现3种未见报道的新发变异,分别为c.578C>G(p.Prp 193Arg)、c.1615A>C(p.Met 539Leu^(*))和c.2_5dupTGCC(p.Pro 2=fs^(*))。基因变异为碱基替换的患儿Loes评分更高,且碱基替换组与缺失/重复组的Loes评分存在统计学差异。儿童脑型的预后较单纯肾上腺病型差。结论儿童X-ALD首发症状不典型,碱基变异类型可预测X-ALD病情进展,3种新发变异有待进一步验证。Objective To analyze and summarize clinical characteristics of X-ALD(X-linked adrenoleukodystrophy)in 39 children.Methods We retrospectively analyze 39 childhood cases diagnosed as X-ALD.Results All 39 cases were male.Of them 27 cases were diagnosed for CCALD(Childhood Cerebral ALD)with intellectual deterioration,gait disturbance and visual disturbance as initial symptoms,12 were diagnosed for Addison type with the only symptom of pigmentation,in which 2 cases were diagnosed by gene analysis without apparent symptoms or physical signs.Level of C26:0 elevated in all 39 cases.Three novel mutations in ABCD1 gene,c.578C>G(p.Prp193Arg),c.1615A>C(p.Met539Leu)and c.2_5dupTGCC(p.Pro2=fs*)were found which had not been reported.Patients with base substitution mutations had higher Loes scores,and there was a significant difference in Loes scores between the base substitution group and the deletion/duplication group.The prognosis of patients with CCALD type was worse than that of Addison type.Conclusion The initial symptoms of X-ALD in children were not typical,and there were three novel mutations needed to be further verified.The type of base substitution mutations could predict the progression,and early diagnosis is the key to improve the prognosis of X-ALD.

关 键 词：X-连锁肾上腺脑白质营养不良 ABCD1基因 新发变异 Loes评分 

分 类 号：R725.8[医药卫生—儿科]