van Karnebeek Clara D M, Jaggumantri Sravan
Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Rm K3-201, 4480 Oak Street, Vancouver, BC, V6H 3V4, Canada,
Curr Treat Options Neurol. 2015 Feb;17(2):335. doi: 10.1007/s11940-014-0335-0.
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium.
吡哆醇依赖性癫痫（PDE）是一种罕见的常染色体隐性疾病，被认为是代谢性癫痫的典型形式。PDE的特征是在产前、新生儿期和/或产后反复发作癫痫，对传统抗癫痫药物耐药，但对药理剂量的吡哆醇有反应。然而，目前尚无明确的长期治疗剂量建议。虽然补充吡哆醇是一线治疗方法，所有确诊的PDE患者都应在早期开始使用，但其他各种治疗策略也不断涌现。这些策略包括赖氨酸限制饮食和精氨酸强化。本文将根据现有证据讨论这些策略，同时给出针对这种罕见但可治疗的代谢性癫痫患者的最佳管理建议，以及未来的研究和合作努力，包括国际PDE联盟。
