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Sindrom Digeorge pada Masyarakat
Abstract
DiGeorge sindrom (DGS) merupakan suatu kelainan mikrodelesi genetik yang paling sering terjadi pada manusia. DiGeorge sindrom terjadi akibat adanya mikrodelesi dari kromosom 22 yaitu pada bagian lengan panjang q di lokus 11.2 sehingga sering disebut sindrom delesi kromosom 22q11.2. Prevalensi dari sindrom mikrodelesi 22q11.2 terjadi sekitar 1 per 4000 – 6000 kelahiran. Adapun manifestasi klinik yang ditemukan pada anak dengan DiGeorge sindrom berupa fitur wajah dismorfik, bentuk bulbus nasal bulat, dagu kecil, lipatan mata dalam, serta telinga yang berlipat. Kelainan klinis lainnya berupa malformasi jantung, hipotonia, dan imunodefisiensi. Penegakan diagnosis DGS dilakukan dengan mendeteksi kejadian mikrodelesi 22q11.2 menggunakan metode Fluorescence In Situ Hibridisasi (FISH). Tatalaksana DGS membutuhkan perawatan interprofesional yang intesif, sangat bergantung pada usia, serta sesuai dengan keparahan gejala atau keluhan yang dialami. Kurangnnya pengetahuan masyarakat mengenai DGS menyebabkan kelainan bawaan ini sering tidak terdeteksi.
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DOI: http://dx.doi.org/10.47506/jpri.v8i2.310
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