Clinical Focus ›› 2021, Vol. 36 ›› Issue (4): 379-384.doi: 10.3969/j.issn.1004-583X.2021.04.019
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Received:2020-10-13Online:2021-04-20Published:2021-05-13
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| 项目 | EA1 | EA2 | EA3 | EA4 | EA5 | EA6 | EA7 | EA8 |
|---|---|---|---|---|---|---|---|---|
| 发病年龄(岁) | 2~15 | 2~20 | 1~42 | 23~60 | 3~成年 | 5~14 | <20 | 儿童 |
| 持续时间 | 数秒至数分钟 | 数小时 | 1 min~6 h | 数小时 | 数小时 | 数小时至数天 | 数小时至数天 | 数小时至24 h |
| 临床表现 | 肌肉颤搐,偶有构 音障碍、癫痫、耳鸣 | 眼震,偶有癫痫 | 肌肉颤搐、耳鸣, 偶有眼震、癫痫 | 眼震,偶有癫痫、 耳鸣 | 眼震、癫痫 | 癫痫,偶有构 音障碍 | 构音障碍 | 无力 |
| CHR基因座 | 12q13 | 19p13 | 1q42 | 不详 | 2q22-q23 | 5p13.2 | 19q13 | 1p36.13 |
| 基因 | KCNA1 | CACNA1A | 不详 | 不详 | CACNB4 | SLC1A3 | 不详 | UBR4 |
| 遗传方式 | AD | AD | AD | AD | AD | 散发 | AD | AD |
| 治疗(乙酰唑胺) | 有效 | 有效 | 有效 | 无效 | 有效 | 有效 | 不详 | 无效 |
| 项目 | EA1 | EA2 | EA3 | EA4 | EA5 | EA6 | EA7 | EA8 |
|---|---|---|---|---|---|---|---|---|
| 发病年龄(岁) | 2~15 | 2~20 | 1~42 | 23~60 | 3~成年 | 5~14 | <20 | 儿童 |
| 持续时间 | 数秒至数分钟 | 数小时 | 1 min~6 h | 数小时 | 数小时 | 数小时至数天 | 数小时至数天 | 数小时至24 h |
| 临床表现 | 肌肉颤搐,偶有构 音障碍、癫痫、耳鸣 | 眼震,偶有癫痫 | 肌肉颤搐、耳鸣, 偶有眼震、癫痫 | 眼震,偶有癫痫、 耳鸣 | 眼震、癫痫 | 癫痫,偶有构 音障碍 | 构音障碍 | 无力 |
| CHR基因座 | 12q13 | 19p13 | 1q42 | 不详 | 2q22-q23 | 5p13.2 | 19q13 | 1p36.13 |
| 基因 | KCNA1 | CACNA1A | 不详 | 不详 | CACNB4 | SLC1A3 | 不详 | UBR4 |
| 遗传方式 | AD | AD | AD | AD | AD | 散发 | AD | AD |
| 治疗(乙酰唑胺) | 有效 | 有效 | 有效 | 无效 | 有效 | 有效 | 不详 | 无效 |
| 疾病 | 基因 | 临床表现 |
|---|---|---|
| LS | MtDNA及核基因 | 母系或常染色体隐性遗传,多于婴幼儿起病。最常见症状为精神和运动发育延迟、肢体无力以及癫痫发作,部分患者可有眼球活动障碍、共济失调、视力下降和听力丧失 |
| AS | POLG | 常染色体隐性遗传,多于出生后数月或2岁内发病。表现为进行性发展的脑病,出现运动和智力发育倒退、难治性癫痫发作和共济失调。 |
| MSCAPS | POLG | 常染色体隐性遗传,在儿童和青少年起病。主要表现为共济失调、癫痫发作和智力发育倒退,部分患者伴随肌张力障碍。 |
| MERRF | MtDNA 8344 | 母系遗传,多见于儿童,表现为肌阵挛、全面性癫痫发作、肌无力、共济失调、耳聋、智力低下、视力下降等。 |
| KSS | MtDNA片段丢失 | 母系遗传,20岁前发病。先后出现持续性眼外肌瘫痪、视网膜色素变性以及心脏传导阻滞,部分患者存在肢体无力、小脑性共济失调、神经性耳聋以及智能减退。 |
| NARP | MtDNA 8993 | 母系遗传,儿童到成年发病,出现四肢远端感觉障碍、肢体无力和腱反射消失以及小脑性共济失调症状。 |
| 疾病 | 基因 | 临床表现 |
|---|---|---|
| LS | MtDNA及核基因 | 母系或常染色体隐性遗传,多于婴幼儿起病。最常见症状为精神和运动发育延迟、肢体无力以及癫痫发作,部分患者可有眼球活动障碍、共济失调、视力下降和听力丧失 |
| AS | POLG | 常染色体隐性遗传,多于出生后数月或2岁内发病。表现为进行性发展的脑病,出现运动和智力发育倒退、难治性癫痫发作和共济失调。 |
| MSCAPS | POLG | 常染色体隐性遗传,在儿童和青少年起病。主要表现为共济失调、癫痫发作和智力发育倒退,部分患者伴随肌张力障碍。 |
| MERRF | MtDNA 8344 | 母系遗传,多见于儿童,表现为肌阵挛、全面性癫痫发作、肌无力、共济失调、耳聋、智力低下、视力下降等。 |
| KSS | MtDNA片段丢失 | 母系遗传,20岁前发病。先后出现持续性眼外肌瘫痪、视网膜色素变性以及心脏传导阻滞,部分患者存在肢体无力、小脑性共济失调、神经性耳聋以及智能减退。 |
| NARP | MtDNA 8993 | 母系遗传,儿童到成年发病,出现四肢远端感觉障碍、肢体无力和腱反射消失以及小脑性共济失调症状。 |
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