Abstract：
OBJECTIVE: Primary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requirements, including heart, muscle and brain. Epilepsy may be the presenting feature of PMD, can be difficult to treat and often represents a poor prognostic feature. The aim of this study was to develop guidelines and consensus recommendations on safe medication use and seizure management in mitochondrial epilepsy.
METHODS: A panel of 24 experts in mitochondrial medicine, pharmacology and epilepsy management of adults and/or children and two patient representatives from seven countries was established. Experts were members of five different European Reference Networks, known as the Mito InterERN Working Group. A Delphi technique was used to allow the panellists to consider draft recommendations on safe medication use and seizure management in mitochondrial epilepsy, using two rounds with predetermined levels of agreement.
RESULTS: A high level of consensus was reached regarding the safety of 14 out of all 25 drugs reviewed, resulting in endorsement of National Institute for Health and Care Excellence guidelines for seizure management, with some modifications. Exceptions including valproic acid in POLG disease, vigabatrin in patients with γ-aminobutyric acid transaminase deficiency and topiramate in patients at risk for renal tubular acidosis were highlighted.
CONCLUSIONS: These consensus recommendations describe our intent to improve seizure control and reduce the risk of drug-related adverse events in individuals living with PMD-related epilepsy.
METHODS: A panel of 24 experts in mitochondrial medicine, pharmacology and epilepsy management of adults and/or children and two patient representatives from seven countries was established. Experts were members of five different European Reference Networks, known as the Mito InterERN Working Group. A Delphi technique was used to allow the panellists to consider draft recommendations on safe medication use and seizure management in mitochondrial epilepsy, using two rounds with predetermined levels of agreement.
RESULTS: A high level of consensus was reached regarding the safety of 14 out of all 25 drugs reviewed, resulting in endorsement of National Institute for Health and Care Excellence guidelines for seizure management, with some modifications. Exceptions including valproic acid in POLG disease, vigabatrin in patients with γ-aminobutyric acid transaminase deficiency and topiramate in patients at risk for renal tubular acidosis were highlighted.
CONCLUSIONS: These consensus recommendations describe our intent to improve seizure control and reduce the risk of drug-related adverse events in individuals living with PMD-related epilepsy.
摘要：
目的：原发性线粒体疾病（PMDs）是能量代谢的常见先天性错误，估计患病率为4300分之一。这些疾病通常影响高能量需求的组织，包括心脏,肌肉和大脑。癫痫可能是PMD的表现特征，可能难以治疗，并且通常表现出不良的预后特征。这项研究的目的是制定有关线粒体癫痫的安全药物使用和癫痫发作管理的指南和共识建议。
方法：由24名线粒体医学专家组成的小组，对来自7个国家的成人和/或儿童以及2名患者代表进行药理学和癫痫治疗.专家是五个不同的欧洲参考网络的成员，被称为MitoInterERN工作组。使用Delphi技术允许小组成员考虑线粒体癫痫的安全药物使用和癫痫发作管理的建议草案。使用具有预定协议级别的两轮。
结果：在所审查的25种药物中，有14种药物的安全性达成了高度共识，导致国家卫生和护理卓越研究所的癫痫发作管理指南得到认可，有一些修改。POLG疾病中包括丙戊酸在内的例外情况，研究强调了γ-氨基丁酸转氨酶缺乏患者的vigabatrin和有肾小管酸中毒风险的托吡酯.
结论：这些共识建议描述了我们改善癫痫发作控制和降低PMD相关癫痫患者药物相关不良事件风险的意图。
方法：由24名线粒体医学专家组成的小组，对来自7个国家的成人和/或儿童以及2名患者代表进行药理学和癫痫治疗.专家是五个不同的欧洲参考网络的成员，被称为MitoInterERN工作组。使用Delphi技术允许小组成员考虑线粒体癫痫的安全药物使用和癫痫发作管理的建议草案。使用具有预定协议级别的两轮。
结果：在所审查的25种药物中，有14种药物的安全性达成了高度共识，导致国家卫生和护理卓越研究所的癫痫发作管理指南得到认可，有一些修改。POLG疾病中包括丙戊酸在内的例外情况，研究强调了γ-氨基丁酸转氨酶缺乏患者的vigabatrin和有肾小管酸中毒风险的托吡酯.
结论：这些共识建议描述了我们改善癫痫发作控制和降低PMD相关癫痫患者药物相关不良事件风险的意图。
