拉莫三嗪治疗Becker型先天性肌强直一例并文献复习
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摘要
目的报道拉莫三嗪治疗1例Becker型先天性肌强直患者的疗效及安全性。方法与结果17岁男性患者,以四肢肌肉僵硬为首发症状,反复运动后症状减轻,血清肌酸激酶水平正常,基因检测提示存在CLCN1基因外显子11 c.1205C> T(p.Ala402Val)及CLCN1基因外显子8 c.896T> C(p.Val299Ala)错义突变,确诊为Becker型先天性肌强直;其母为CLCN1基因外显子11 c.1205C> T(p.Ala402Val)、其父为CLCN1基因外显子8 c.896T> C(p.Val299Ala)错义突变,确诊为Becker型先天性肌强直家系,其中CLCN1基因外显子8 c.896T> C突变尚无报道。经拉莫三嗪连续治疗5年后肌强直症状长期缓解,且无任何药物不良反应。结论该例CLCN1基因外显子8 c.896T> C错义突变进一步扩展了CLCN1基因突变谱。拉莫三嗪治疗效果良好,为Becker型先天性肌强直的治疗提供了新的思路。
Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated exercise. The creatine kinase(CK)level was normal. Genetic testing showed there were two missense mutations c.1205 C > T(p.Ala402 Val)and c.896 T > C(p.Val299 Ala) located in exon 11 and 8 of CLCN1 gene respectively in the proband. The missense mutation c.1205 C > T(p.Ala402 Val) in exon 11 was found out in his mother and c.896 T > C(p.Val299 Ala) located in exon 8 was found out in his father. The latter, exon 8 c.896 T>C of CLCN1 gene has not been reported. The proband was clearly diagnosed as Becker myotonia congenita, and his family was diagnosed as Becker myotonia congenita pedigree. After 5 years' treatment with lamotrigine, the symptom of myotonia was significantly improved and no adverse reactions was observed. Conclusions The missense mutation in exon 8 c.896 T > C in this patient further expanded the CLCN1 gene mutation spectrum. Lamotrigine is effective in treating Becker myotonia congenita, providing a new idea for the treatment of myotonia congenita.
Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated exercise. The creatine kinase(CK)level was normal. Genetic testing showed there were two missense mutations c.1205 C > T(p.Ala402 Val)and c.896 T > C(p.Val299 Ala) located in exon 11 and 8 of CLCN1 gene respectively in the proband. The missense mutation c.1205 C > T(p.Ala402 Val) in exon 11 was found out in his mother and c.896 T > C(p.Val299 Ala) located in exon 8 was found out in his father. The latter, exon 8 c.896 T>C of CLCN1 gene has not been reported. The proband was clearly diagnosed as Becker myotonia congenita, and his family was diagnosed as Becker myotonia congenita pedigree. After 5 years' treatment with lamotrigine, the symptom of myotonia was significantly improved and no adverse reactions was observed. Conclusions The missense mutation in exon 8 c.896 T > C in this patient further expanded the CLCN1 gene mutation spectrum. Lamotrigine is effective in treating Becker myotonia congenita, providing a new idea for the treatment of myotonia congenita.
引文
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[6]Ginanneschi F,Mignarri A,Lucchiari S,Ulzi G,Comi GP,Rossi A,Dotti MT.Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletinein myotonia congenita[J].Neurophysiol Clin,2017,47:247-252.
[7]Lin N,Liu Y,Qi H,Zhou FL,Xin Q,Wang HY.The effect of lamotrigine on anti-depressant of and its mechanism[J].Jining Yi Xue Yuan Xue Bao,2018,41:163-166[.林娜,柳洋,祁晖,周凤玲,辛勤,王海英.拉莫三嗪抗抑郁作用及其机制研究[J].济宁医学院学报,2018,41:163-166.]
[8]Andersen G,Hedermann G,Witting N,Duno M,Andersen H,Vissing J.The antimyotonic effect of lamotrigine in nondystrophic myotonias:a double-blind randomized study[J].Brain,2017,140:2295-2305.
[9]Skov M,de Paoli FV,Nielsen OB,Pedersen TH.The anticonvulsants lacosamide,lamotrigine,and rufinamide reduce myotonia in isolated human and rat skeletal muscle[J].Muscle Nerve,2017,56:136-142.
[10]Lan L,Shan P,Li CJ.Review of recent literatures on adverse reactions of lamotriazine[J].Zhongguo Yao Wu Lan Yong Fang Zhi Za Zhi,2016,22:108-109[.蓝兰,单萍,李成建.拉莫三嗪不良反应近况文献概述[J].中国药物滥用防治杂志,2016,22:108-109.]
[2]Portaro S,Altamura C,Licata N,Camerino GM,Imbrici P,Musumeci O,Rodolico C,Conte Camerino D,Toscano A,Desaphy JF.Clinical,molecular,and functional characterization of CLCN1 mutations in three families with recessive myotonia congenita[J].Neuromolecular Med,2015,17:285-296.
[3]Feng XH,Cui LY.Progress in skeletal muscle channelopathies[J].Zhongguo Shi Yong Nei Ke Za Zhi,2011,31:84-85[.冯新红,崔丽英.骨骼肌离子通道病研究现状和进展[J].中国实用内科杂志,2011,31:84-85.]
[4]Modoni A,D'Amico A,Dallapiccola B,Mereu ML,Merlini L,Pagliarani S,Pisaneschi E,Silvestri G,Torrente I,Valente EM,Lo Monaco M.Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita[J].J Clin Neurophysiol,2011,28:39-44.
[5]Fialho D,Schorge S,Pucovska U,Davies NP,Labrum R,Haworth A,Stanley E,Sud R,Wakeling W,Davis MB,Kullmann DM,Hanna MG.Chloride channel myotonia:exon 8hot-spot for dominant-negative interactions[J].Brain,2007,130:3265-3274.
[6]Ginanneschi F,Mignarri A,Lucchiari S,Ulzi G,Comi GP,Rossi A,Dotti MT.Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletinein myotonia congenita[J].Neurophysiol Clin,2017,47:247-252.
[7]Lin N,Liu Y,Qi H,Zhou FL,Xin Q,Wang HY.The effect of lamotrigine on anti-depressant of and its mechanism[J].Jining Yi Xue Yuan Xue Bao,2018,41:163-166[.林娜,柳洋,祁晖,周凤玲,辛勤,王海英.拉莫三嗪抗抑郁作用及其机制研究[J].济宁医学院学报,2018,41:163-166.]
[8]Andersen G,Hedermann G,Witting N,Duno M,Andersen H,Vissing J.The antimyotonic effect of lamotrigine in nondystrophic myotonias:a double-blind randomized study[J].Brain,2017,140:2295-2305.
[9]Skov M,de Paoli FV,Nielsen OB,Pedersen TH.The anticonvulsants lacosamide,lamotrigine,and rufinamide reduce myotonia in isolated human and rat skeletal muscle[J].Muscle Nerve,2017,56:136-142.
[10]Lan L,Shan P,Li CJ.Review of recent literatures on adverse reactions of lamotriazine[J].Zhongguo Yao Wu Lan Yong Fang Zhi Za Zhi,2016,22:108-109[.蓝兰,单萍,李成建.拉莫三嗪不良反应近况文献概述[J].中国药物滥用防治杂志,2016,22:108-109.]
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