Huntington Hastalığı Tedavisi
Özet
Huntington hastalığı (HH), tam penetransa sahip, otozomal dominant (OD) kalıtım gösteren ilerleyici bir nörodejeneratif hastalıktır. Hastalığın klinik belirtileri ilerleyici motor, psikiyatrik ve kognitif bozukluktur. Motor semptomlardan kore, en göze çarpan bulgularındandır. Mutant huntingtin geni (mHTT), HH’den sorumlu gen olup 40 ve üzeri CAG tekrarı tam penetranslı hastalık gelişimi ile ilişkilidir. Günümüzde HH’nin, mHTT geni ya da mHTT agregatlarını hedef alan kanıtlanmış bir hastalık modifiye edici, kesin bir tedavisi bulunmamaktadır. Hali hazırda kullanılan ilaçlar ile esas olarak HH’nin motor, kognitif ve psikiyatrik semptomlarını hafifletmek ve hastaların yaşam kalitelerini yükseltmek hedeflenmektedir. Son yıllarda hastalığın moleküler ve genetik düzeyde anlaşılmasına yönelik klinik çalışmalar yapılmaktadır. Bu çalışmalar hastalık modifiye edici molekülleri de kapsamaktadır. Bu gelişmeler HH’de yeni ve başarılı tedaviler açısından umut vadetmektedir. Huntington hastalığı tedavisinin ele alınacağı bu bölümde, HH’ye yönelik güncel semptomatik tedavi yaklaşımlarının yanı sıra, hastalık modifiye edici tedaviler, tamamlanmış ve hali hazırda yürütülen klinik araştırmalar, genetik çalışmalar ve geleceğe dönük tedavi yaklaşımları kapsamlı bir şekilde ele alınacaktır.
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