Huzursuz bacak sendromunda genetik

ACAR, Suat; GENCER, Ahmet Murat

Huzursuz bacak sendromunda genetik

Suat ACAR, (Rize Devlet Hastanesi, Fiziksel Tıp ve Rehabilitasyon Kliniği, Rize, Türkiye)

Ahmet Murat GENCER (Dokuz Eylül Üniversitesi, Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, İzmir, Türkiye)

Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi

6 1

Yıl: 2005 Cilt: 51 Sayı: 4 Sayfa Aralığı: 156 - 160 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Huzursuz bacak sendromunda genetik

Öz:

Huzursuz bacak sendromu (HBS); bacakları hareket ettirme dürtüsü veya ihtiyacı ile bacaklarda anormal duyularla karakterize, sensorimotor bir bozukluktur. Semptomlar genelde geceleri oluşur, dinlenmekle kötüleşip, hareketle düzelir. Epidemiyolojik çalışmalara göre HBS semptomları populasyonun %5-15 kadarında görülmektedir. HBS’nin patofizyolojisinde demir metabolizması ve dopaminerjik sistem bozuklukları saptanmıştır. Dopaminerjik ve demir replasman tedavileri HBS’in birçok semptomunu düzeltmektedir. HBS’nin klinik araştırmalarında pozitif aile öyküsü mevcut olup, değişik oranlarda otozomal dominant geçiş saptanmış, bazı ailelerde uyumlu sonuçlar elde edilmiştir. HBS hastalarının moleküler genetik incelemelerinde kesin veriler saptanamamış ancak geniş genom çalışmalarında; 9, 12 ve 14. kromozomlarda değerli bulgular elde edilmiştir. Sonuç olarak HBS; heterojen genetik bir hastalık olup HBS ile ilgili genlerin belirlenmesinde ileri çalışmalara ihtiyaç vardır.

Anahtar Kelime: Yaygınlık Huzursuz bacak sendromu Genetik

Konular: Rehabilitasyon

Genetics in restless legs syndrome

Öz:

Restless legs syndrome (RLS); is a sensorimotor disorder characterized by an urge or need to move the limbs, usually associated with abnormal sensations in the legs. These symptoms are worse at rest, are relieved by movement, and mainly occur at night. Epidemiological studies indicate that the symptoms of RLS are present in about 5-15% of the general population. The pathophysiology of RLS involve iron metabolism and dopaminergic system dysfunction. Dopaminergic and iron replacement therapy relieve the most symptoms of RLS. Clinical surveys of RLS have shown positive family history and suggested an autosomal dominant inheritance with variable expressivity, and some families show possible anticipation. Molecular genetic studies did not show any significant finding but genome-wide studies showed that susceptibility locus on chromosome 9, 12 and 14 were confirmed in RLS patients. In conclusion, RLS is a heterogenous genetical disorder and new investigations are needed in the identification of the RLS genes.

Anahtar Kelime: Prevalence Restless Legs Syndrome Genetics

Konular: Rehabilitasyon

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Erişime Açık

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APA	ACAR S, GENCER A (2005). Huzursuz bacak sendromunda genetik. , 156 - 160.
Chicago	ACAR Suat,GENCER Ahmet Murat Huzursuz bacak sendromunda genetik. (2005): 156 - 160.
MLA	ACAR Suat,GENCER Ahmet Murat Huzursuz bacak sendromunda genetik. , 2005, ss.156 - 160.
AMA	ACAR S,GENCER A Huzursuz bacak sendromunda genetik. . 2005; 156 - 160.
Vancouver	ACAR S,GENCER A Huzursuz bacak sendromunda genetik. . 2005; 156 - 160.
IEEE	ACAR S,GENCER A "Huzursuz bacak sendromunda genetik." , ss.156 - 160, 2005.
ISNAD	ACAR, Suat - GENCER, Ahmet Murat. "Huzursuz bacak sendromunda genetik". (2005), 156-160.

APA	ACAR S, GENCER A (2005). Huzursuz bacak sendromunda genetik. Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi, 51(4), 156 - 160.
Chicago	ACAR Suat,GENCER Ahmet Murat Huzursuz bacak sendromunda genetik. Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi 51, no.4 (2005): 156 - 160.
MLA	ACAR Suat,GENCER Ahmet Murat Huzursuz bacak sendromunda genetik. Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi, vol.51, no.4, 2005, ss.156 - 160.
AMA	ACAR S,GENCER A Huzursuz bacak sendromunda genetik. Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi. 2005; 51(4): 156 - 160.
Vancouver	ACAR S,GENCER A Huzursuz bacak sendromunda genetik. Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi. 2005; 51(4): 156 - 160.
IEEE	ACAR S,GENCER A "Huzursuz bacak sendromunda genetik." Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi, 51, ss.156 - 160, 2005.
ISNAD	ACAR, Suat - GENCER, Ahmet Murat. "Huzursuz bacak sendromunda genetik". Türkiye Fiziksel Tıp ve Rehabilitasyon Dergisi 51/4 (2005), 156-160.