Etiologi Restless Legs Syndrome

Oleh :

dr. Felicia

Etiologi restless legs syndrome atau RLS adalah idiopatik, tetapi peran genetik seperti mutasi atau defisiensi gen MEIS1, diduga menjadi etiologi RLS. Sebelumnya etiologi RLS dibagi menjadi primer dan sekunder, di mana RLS sekunder berhubungan dengan keadaan klinis atau penyakit tertentu, seperti kehamilan, gagal ginjal kronis dan defisiensi zat besi. Kondisi ini menyebabkan disfungsi neurotransmitter, terutama sistem dopaminergik.

Akan tetapi, pembagian primer dan sekunder ini sudah tidak digunakan lagi, karena terdapat kemungkinan bahwa RLS pada penyebab sekunder ini sebenarnya merupakan komplikasi dibandingkan penyebab.[2–6]

Peranan Genetik dalam Etiologi RLS

Referensi

1. Klingelhoefer L, Cova I, Gupta S, Chaudhuri KR. A review of current treatment strategies for restless legs syndrome (Willis–Ekbom disease). Clin Med. 2014 Oct;14(5):520–4.
2. Silber MH, Buchfuhrer MJ, Earley CJ, Koo BB, Manconi M, Winkelman JW, et al. The Management of Restless Legs Syndrome: An Updated Algorithm. Mayo Clin Proc. 2021 Jul 1;96(7):1921–37.
3. García-Martín E, Jiménez-Jiménez FJ, Alonso-Navarro H, Martínez C, Zurdo M, Turpín-Fenoll L, et al. Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome. Medicine (Baltimore), 2015 Aug; 94(34). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602895/
4. Winkelmann J, Schormair B, Xiong L, Dion PA, Rye DB, Rouleau GA. Genetics of restless legs syndrome. Sleep Med. 2017 Mar;31:18–22.
5. Mansur A, Castillo PR, Rocha Cabrero F, Bokhari SRA. Restless Legs Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2024. http://www.ncbi.nlm.nih.gov/books/NBK430878/
6. Heidbreder DA, Trenkwalder DC, Deutsche Gesellschaft für Neurologie (DGN), Deutsche Gesellschaft für Schlafforschung und Schlafmedizin (DGSM). Entwicklungsstufe: S2k Federführend: Leitlinien für Diagnostik und Therapie in der Neurologie. Restless Legs Syndr. 2023;72.
7. Guo S, Huang J, Jiang H, Han C, Li J, Xu X, et al. Restless Legs Syndrome: From Pathophysiology to Clinical Diagnosis and Management. Front Aging Neurosci. 2017;9:171.
8. Memon MD, Faiz S, Zaveri MP, Perry JC, Schuetz TM, Cancarevic I. Unraveling the Mysteries of Restless Leg Syndrome. Cureus. 2020 Oct 14;12(10):e10951.
9. Trenkwalder C, Allen R, Högl B, Clemens S, Patton S, Schormair B, et al. Comorbidities, treatment, and pathophysiology in restless legs syndrome. Lancet Neurol. 2018 Nov 1;17(11):994–1005.
11. Li G, Tang H, Wang C, Qi X, Chen J, Chen S, et al. Association of BTBD9 and MAP2K5/SKOR1 With Restless Legs Syndrome in Chinese Population. Sleep. 2017 Apr 1;40(4):zsx028.
12. Broström A, Alimoradi Z, Lind J, Ulander M, Lundin F, Pakpour A. Worldwide estimation of restless legs syndrome: a systematic review and meta-analysis of prevalence in the general adult population. J Sleep Res. 2023;32(3):e13783.
13. Mislu E, Assalfew B, Arage MW, Chane F, Hailu T, Tenaw LA, et al. Prevalence and factors associated with restless legs syndrome among pregnant women in middle-income countries: a systematic review and meta-analysis. Front Med. 2023 Dec 21; 10. https://www.frontiersin.org/articles/10.3389/fmed.2023.1326337
14. Didato G, Di Giacomo R, Rosa GJ, Dominese A, de Curtis M, Lanteri P. Restless Legs Syndrome across the Lifespan: Symptoms, Pathophysiology, Management and Daily Life Impact of the Different Patterns of Disease Presentation. Int J Environ Res Public Health. 2020 Jan;17(10):3658.

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