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하지불안증후군/윌리스-엑봄병의 병태생리

The Pathophysiology of Restless Legs Syndrome/Willis-Ekbom Disease

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대한수면의학회 (Korean Academy of Sleep Medicine)|2021.12|수면정신생리 (Sleep Medicine and Psychophysiology)|제28권 제2호|pp. 43-52|DOI 10.14401/KASMED.2021.28.2.43

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하지불안증후군Pathophysiology병태생리윌리스-엑봄병Restless Legs SyndromeWillis-Ekbom Disease
주제분류정신과학

초록

RLS/WED은 수면 전 불쾌한 이상감각과 정좌불능증, 그 리고 수면 중 주기적 사지 움직임과 같은 감각운동성 증상이 특징인 수면질환이다. 또한 과각성 상태 와도 관련이 깊어 불 면증을 흔히 동반한다. 아직 명쾌하게 설명할 수 있을 정도는 아니지만, 최근에 유전학적, 신경 생물학적인 연구 발전을 통 해서 병인과 병태생리적 이해가 많이 확장되었다. RLS/ WED의 가장 중요한 병태생리 기전은 뇌 철 결핍이라 할 수 있다. 뇌의 철 결핍은 여러 유전적인 요인들과 동반 질환이 포함된 다양한 환경적인 요인들이 복잡하게 상호작용하여 초래된다. 뇌의 철 결핍은 여러 신경 전달물질들의 기능 이 상을 초래한다. 아데노신 활성의 저하가 먼저 나타나고 이차적으로 글루타메이트와 도파민의 활성 증가가 이어서 나타 난다. 아데노신 활성의 저하와 글루타메이트와 활성의 증가 는뇌각성체계를자극하게되어과각성현상이나타난다. 또한 도파민과 글루타메이트의 과활성은 피질-선조-시상 회로의 기능 이상을 초래하여 정좌불능증이나 수면 중 주기 적 사지 움직임과 같은 증상이 나타난다.

Abstract

Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED) is a sleep disorder characterized by sensorimotor symptoms such as unpleasant sensations before sleep, akathisia, and periodic limb movements during sleep. It is also closely related to hyper- arousal and is often accompanied by insomnia. Although the mechanism is not clear, the understanding of etiology and pathophysiology has greatly expanded through recent advances in genetic and neurobiological research. The most impor- tant pathophysiology of RLS/WED is brain iron deficiency. Such iron deficiency in the brain is caused by complex interac- tions between several genetic factors and various environmental factors, including comorbidities. Iron deficiency in the brain results in dysfunction of several neurotransmitters. A decrease in adenosine activity appears first, followed by an in- crease in the activity of glutamate and dopamine. A decrease in adenosine activity and an increase in glutamate activity stimulate the brain arousal system, resulting in hyperarousal. In addition, overproduction of dopamine and glutamate leads to dysfunction of the cortical-striatal-thalamic circuit, resulting in symptoms such as akathisia and periodic limb movements during sleep.

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