双相情感障碍丙戊酸钠治疗过程中POLG基因突变1例分析

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Abstract

Sodium Valproate as a mood stabilizer is widely used in patients with bipolar disorder, which is also effective for rapid cycling and mixed episodes about bipolar disorder.The damage of Sodium Valproate to liver function cannot be ignored.The use of Sodium Valproate in patients with POLG gene mutation will aggravate the damage of liver function, and even cause liver failure, leading to death of the patients.This article reports a case in which POLG gene mutation was detected during the early use of Sodium Valproate in the treatment of bipolar disorder and Sodium Valproate was discontinued in time.And through this case, it is recommended that psychiatrists should perform POLG gene analysis before treatment with Sodium Valproate, especially in patients suspected with mitochondrial disease.

Key words： Bipolar disorder Sodium Valproate POLG gene Case report

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[1]	张明园.精神科评定量表手册[M].长沙：湖南科学技术出版社，1998：35-42，133-136.
[2]	汤毓华.汉密顿抑郁量表[J].中国心理卫生杂志，1999，13（增刊）：220-224.
[3]	Rosa AR，Fountoulakis K，Siamouli M，et al.Is anticonvulsant treatment of mania aclass effect？Data from randomized clinical trials[J].CNS Neurosci Ther，2011，17（3）：167-177.
[4]	Rosso G，Bertetto N，Coppola I，et al.Mood stabilizers in the treatment of bipolar disorder mixed states[J].Riv Psichiatr，2012，47（4）：281-293.
[5]	Fountoulakis KN，Kontis D，Gonda X，et al.Treatment of mixed bipolar states[J].Int J Neuropsychopharmacol，2012，15（7）：1015-1026.
[6]	常静，中华医学会精神医学分会双相障碍协作组.双相障碍伴混合特征临床诊治指导建议[J].中华精神科杂志，2018，51（2）：83-89.
[7]	孙纪军，王学峰.抗癫痫药物引起的肝损伤[J].中华神经科杂，2006，39（1）：66-68.
[8]	Nanau RM，Neuman MG.Adverse drug reactions induced by valproic acid[J].Clin Biochem，2013，46（15）：1323-1338.
[9]	储小曼，郭岑，张丽芳.丙戊酸的代谢特征与其肝毒性的相关性[J].中国医院药学杂志，2013，33（19）：1611-1614.
[10]	Surendradoss J，Chang TKH，Abbott FS.Assessment of the role of in situ generated （E）-2，4-diene-valproic acid in the toxicity of valproic acid and （E）-2-ene-valproic acid in sandwich-cultured rat hepatocytes[J].Toxicol Appl Pharmacol，2012，264（3）：413-422.
[11]	Khemawoot P，Maruyama C，Tsukada H，et al.Influence of chronic hepatic failureon disposition kinetics of valproate excretion through a phase Ⅱreaction in rats treated with carbon tetrachloride[J].Biopharm Drug Dispos，2007，28（6）：331-338.
[12]	Stumpf JD，Copeland WC.Mitochondrial DNA replication and disease：insights from DNA polymerase γ mutations[J].Cell Mol Life Sci，2011，68（2）：219-233.
[13]	Naviaux RK，Nguyen KV.POLG mutations associated with Alpers′ syndrome andmitochondrial DNA depletion[J].Ann Neurol，2010，58（3）：491-491.
[14]	Rahman S，Copeland WC.POLG-related disorders and their neurological manifestations[J].Nat Rev Neurol，2019，15（1）：40-52.
[15]	Anagnostou ME，Ng YS，Taylor RW，et al.Epilepsy due to mutations in the mitochondrial polymerase gamma，gene：A clinical and molecular genetic review[J].Epilepsia，2016，57（10）：1531-1545.
[17]	杨锐，彭丽琨，何大可.1例Alpers 综合征患儿的诊疗分析[J].儿科药学杂志，2018，24（12）：14-17.
[18]	Saneto RP.Alpers-Huttenlocher syndrome：A review[J].Pediatr Neurol，2013，48（3）：167-178.
[25]	丙戊酸钠缓释片说明书[EB/OL].https：//baike.baidu.com/item/丙戊酸钠缓释片/865696？ fr=aladdin.
[16]	Sofou K，Moslemi AR，Kollberg G，et al.Phenotypic and genotypic variability in Alpers syndrome[J].Eur J Paediatr Neurol，2012，16（4）：379-389.
[19]	Chinnery PF，Zeviani M.155th ENMC workshop：polymerase gamma and disorders of mitochondrial DNA synthesis，21-23 September 2007，Naarden，The Netherlands[J].Neuromuscul Disord，2008，18（3）：259-267.
[20]	Sitarz KS，Elliott HR，Karaman，Betül S，et al.Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts[J].Mol Genet Metab，2014，112（1）：57-63.
[21]	Rajakulendran S，Pitceathly RDS，Taanman JW，et al.A Clinical，Neuropathological andGenetic Study of Homozygous A467T POLG-Related Mitochondrial Disease[J].PLoS One，2016，11（1）：e0145500.
[22]	Hynynen J，Komulainen T，Tukiainen E，et al.Acute liver failure in patients withPOLG1 mutations after valproate exposure and their prognosis after liver transplantation[J].Liver Transpl，2014，20（11）：1402-1412.
[23]	London F，Hadhoum N，Outteryck O，et al.Late-onset of Alpers-Huttenlocher syndrome：an unusual cause of refractory epilepsy and liver failure[J].Acta Neurol Belg，2017，117（1）：399-401.
[24]	Saneto RP，Lee IC，Koenig MK，et al.POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders[J].Seizure，2010，19（3）：140-146.