BOLALARDA TROMBOSITOPENIYANING TURLI SHAKLLARINI DIAGNOSTIKADA GENETIK TADQIQOTLARNING ROLI (ADABIYOTLAR SHARHI)
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Immun trombotsitopeniya, bolalar, genetik test, keyingi avlod sekvensiyasi.##article.abstract##
Immun trombotsitopenik purpura (ITP) eng keng tarqalgan immun gematopatiyalardan biri bo'lib, uning rivojlanishida trombotsitlar antijenlarining tor spektriga qarshi qaratilgan antikorlar etakchi rol o'ynaydi. Surunkali ITPda o'lim darajasi past (1% dan ko'p bo'lmagan) bo'lishiga qaramay, kasallik bemorning hayot sifatini keskin pasaytiradi va ko'pincha murakkab va qimmat davolanishni talab qiladi. Asosiy muammo - bu kasallikning surunkali shakllarini tashxislash va davolash bo'lib, uning ostida irsiy trombotsitopeniya yoki birlamchi immunitet tanqisligi (PID) ko'pincha yashirin bo'lishi mumkin. So'nggi paytlarda yuqori o'tkazuvchanlik sekvenlash (HTS) dan foydalanish irsiy trombotsitopeniyalarning tashxisini yaxshiladi. Sekvenlashdan foydalanib, kamida 32 genga ta'sir qiluvchi molekulyar nuqsonlar tufayli kelib chiqqan irsiy trombotsitopeniyaning 33 xil shakllari aniqlandi; Trombotsitopeniyaning patogenetik mexanizmlari ham batafsil o'rganildi va terapevtik variantlar ishlab chiqildi [1,2,3,4].
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