Ключевые слова
Аннотация
Tug‘ma nefrotik sindrom (TNS) – bu bolalarda dastlabki hayot oylarida yuzaga keladigan, buyrak filtratsiya tizimining genetik buzilishi natijasida rivojlanadigan noyob kasallikdir. Ushbu holat proteinuriya, shish (anasarka), gipoalbuminemiya va boshqa jiddiy asoratlar bilan xarakterlanadi, bu esa erta diagnostika va davolashni talab qiladi. Epidemiologik ma’lumotlarga ko‘ra, TNSning eng keng tarqalgan shakli Fin tipi (NPHS1 gen mutatsiyasi) bo‘lib, taxminan 1:8200 tug‘ilishda bir holat sifatida uchraydi, lekin boshqa genetik variantlar ham mavjud. Kasallikning og‘ir kechishi va uzoq muddatli asoratlari, masalan, surunkali buyrak yetishmovchiligi yoki o‘sishning sekinlashishi, uni pediatrik nefrologiya sohasidagi dolzarb muammolardan biriga aylantiradi.
Библиографические ссылки
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