Journal of Clinical Pediatrics ›› 2022, Vol. 40 ›› Issue (3): 170-176.doi: 10.12372/jcp.2022.21e1721
• Expert Review • Previous Articles Next Articles
SHI Xiuyu, HU Linyan, HAN Fang, ZOU Liping
Received:
2021-12-16
Online:
2022-03-15
Published:
2022-03-09
SHI Xiuyu, HU Linyan, HAN Fang, ZOU Liping. Precision treatment in pediatric epilepsy[J].Journal of Clinical Pediatrics, 2022, 40(3): 170-176.
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项 目 | 检测疾病 |
---|---|
血液 | |
氨基酸 | 氨基酸血症 |
酰基肉碱谱 | 线粒体疾病,脂肪酸氧化缺陷和酮体代谢紊乱 |
乳酸/丙酮酸 | 能量代谢障碍 |
溶酶体酶 | 溶酶体贮积病 |
过氧化物酶体脂肪酸 | 过氧化物酶体病 |
同型半胱氨酸 | 高同型半胱氨酸血症 |
生物素酶活性 | 生物素酶缺乏症 |
尿液 | |
有机酸 | 有机酸尿症 |
氨基酸 | 氨基酸血症 |
尿肉碱及酰基肉碱 | 脂肪酸代谢缺陷病 |
尿液嘌呤与嘧啶代谢检测 | 腺苷脱氨酶缺乏症,二氢嘧啶脱氢酶缺乏症,二氢嘧啶分解酶缺乏症,β-脲基丙酸酶缺陷症 |
肌酸和胍基乙酸 | 脑肌酸缺乏综合征,肌酸缺乏综合征 |
硫化半胱氨酸 | 钼辅因子缺乏症 |
脑脊液 | |
脑脊液/血液葡萄糖比值 | 葡萄糖转运体缺陷 |
甲基四氢叶酸/叶酸受体抗体 | 脑叶酸缺乏症 |
氨基酸 | 非酮症性高血糖,甘氨酸脑病,丝氨酸生物合成缺陷,亚硫酸盐氧化酶缺乏症 |
乳酸/丙酮酸 | 能量代谢障碍 |
神经递质合成与代谢缺陷筛查 | 3-O-甲基多巴,5-羟基色氨酸,5-羟吲哚乙酸,高香草酸,羟苯乙二醇,5-甲基四氢叶酸 |
其他 | |
成纤维细胞/白细胞 | 溶酶体贮积病,线粒体酶活性 |
肌肉组织 | 线粒体疾病 |
骨髓 | 戈谢病,尼曼匹克病 |
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代谢疾病 | 基因/病因 | 精准治疗 |
---|---|---|
原发性脑叶酸缺乏 | 叶酸受体缺陷或叶酸受体抗体 | 亚叶酸或甲基叶酸 |
吡哆醇依赖性癫痫 | ALDH7A | 吡哆醇和亚叶酸 |
吡哆醛5'-磷酸依赖性癫痫 | PNPO / PNPO酶 | 吡哆醛5'-磷酸盐 |
葡萄糖转运体缺陷 | SLC2A1 / 葡萄糖转运蛋白1型 | 生酮饮食 |
生物素酶缺乏 | BTD/生物酶 | 生物素 |
生物素硫胺素反应性基底节病 | SLCl9A3 /硫胺素转运蛋白 | 硫胺素和生物素 |
丝氨酸合成缺陷 | PHGDH、PSPH、PSAT | 口服L-丝氨酸 |
肌酸缺乏综合征 | SLC6A8 / GAMT | 膳食中限制精氨酸,补充肌酸和L鸟氨酸 |
核黄素转运体缺乏症 | SLC52A2 / RFVT2 | 核黄素 |
钼辅因子缺乏症A | MOCS1和MOCS2 | 纯化环吡蝶呤单磷酸 |
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癫痫综合征(#OMIM) | 基因 | 蛋白功能 | 可能的靶向治疗 |
---|---|---|---|
伴有语言障碍的局灶性癫痫,有/没有智力低下(#245570)/EIEE27(#616139) | GRIN2A, GRIN2B, GRIN2D | NMDAR亚单位 | NMDAR拮抗剂美金刚和右美沙芬,潜在有用(对于GOF变异) |
EIEE32(#616366) | KCNA2 | 电压门控钾通道 | 对于GOF变异,4-氨基吡啶(4-AP,Kv1通道抑制剂)潜在有效 |
EIEE7(#613720);BFNS1(#121200) | KCNQ2 | 电压门控钾通道 | 钾通道开启剂(瑞替加滨和依唑加滨治疗LOF变异),钠通道阻滞剂(CBZ)潜在有效 |
EIEE14(#614959);夜间额叶癫痫(#615005) | KCNT1 | 钠活化的钾离子通道 | 钾通道开启剂(奎尼丁对GOF可能有效) |
家族性婴儿惊厥伴阵发性舞蹈症(#602066);BFIS2(#605751) | PRRT2 | 突触传递调节器 | 钠通道阻滞剂(卡马西平、奥卡西平) |
Dravet综合征(#607208) | SCN1A | 电压门控钠通道 | 避免使用钠通道阻滞剂(卡马西平、苯妥英钠) |
EIEE11(#613721);BFIS3(#607745) | SCN2A | 电压门控钠通道 | GOF变异用钠通道阻滞剂,LOF变异避免钠通道阻滞剂 |
EIEE13(#614558);BFIS5(#617080) | SCN8A | 电压门控钠通道 | 对于GOF变异用钠通道阻滞剂 |
FCDII型(#607341) | mTOR, TSC1, TSC2 | mTOR通路效应因子/调节因子 | 雷帕霉素或其他mTOR抑制剂 |
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