Abstract
Mukopolisaxaridoz (MPS) lizosomalar saqlash kasalliklarining bir guruhi boʻlib, glikozaminoglikanlar (GAG) parchalanishida ishtirok etuvchi fermentlar etishmovchiligi tufayli yuzaga keladi. Ushbu kasallik bolalarda ogʻir irsiy patologiya sifatida namoyon boʻlib, koʻp tizimli shikastlanishlarga, skelet deformatsiyalariga, yurak-qon tomir, nafas olish, koʻrish va eshitish tizimlarining buzilishlariga olib keladi. Maqolada mukopolisaxaridozning zamonaviy diagnostika usullari, shu jumladan biokimyoviy, molekulyar va tasvirlash metodlari hamda terapevtik boshqaruv strategiyalari, fermentlarni almashtirish terapiyasi, gematopoetik stem hujayra transplantatsiyasi va gen terapiyasi kabi yondashuvlar tahlil qilinadi. Adabiyotlar sharhi va muhokama boʻlimlarida kasallikning epidemiologiyasi, klinik koʻrinishlari va davolash natijalari koʻrib chiqiladi. Natijalar boʻlimida klinik kuzatuvlar va tasviriy materiallar keltirilgan. Xulosa qismida erta diagnostika va kompleks terapiyaning ahamiyati taʼkidlanadi. Tadqiqot maqsadi - mutaxassislar uchun mukopolisaxaridozning zamonaviy boshqaruvi boʻyicha ilmiy asoslangan maʼlumotlar taqdim etishdir.
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