Tugma va orttirilgan mikrotsefaliyalar etiopatogenezi, klinik kechuvi, tashxislash va tavsiyalar klinik kuzatuvlar misolida
Referat
Maqsad. Tadqiqotning maqsadi tugma va orttirilgan mikrotsefaliyalarning etiopatogenezi, klinik kechuvi va tashxislash usullarini klinik kuzatuvlar misolida yoritishdan iborat.
Materiallar va usullar. Tadqiqotda ikki klinik holat tahlil qilindi: biri ASPM genidagi patogen mutatsiya bilan bogliq tugma mikrotsefaliya, ikkinchisi esa fenilketonuriya oqibatida shakllangan ikkilamchi mikrotsefaliya. Klinik tekshiruvlar qatoriga anamnestik ma’lumotlar, fizik ko‘rik, laborator va instrumental usullar (EEG, MRT, biokimyoviy testlar), shuningdek NGS asosida genetik testlar kiritildi.
Natijalar. 1-bemorda ASPM genida gomozigot patogen mutatsiya aniqlanib, birlamchi mikrotsefaliya 5-tip tashxisi qoyildi. 2-bemorda esa PAH genidagi mutatsiya tasdiqlanib, fenilketonuriya oqibatida ikkilamchi mikrotsefaliya rivojlangan. Har ikkala holatda ham aqliy, nutqiy va jismoniy rivojlanishda orqada qolish, simptomatik epilepsiya va nevrologik o‘zgarishlar qayd etildi.
Xulosa. Mikrotsefaliya ko‘p shaklli patologiya bo‘lib, erta tashxis qo‘yish va differensial yondashuv genetik tekshiruvlarni talab etadi. Klinik kuzatuvlar mintaqamizda ushbu kasalliklarning fenotipik va genotipik xususiyatlarini aniqlash zarurligini ko‘rsatadi.
Mualliflar haqida
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