REFSUM KASALLIGIDA AVTONOM NERV TIZIMI BUZILISHLARI
DOI:
https://doi.org/10.37547/Keywords:
Refsum kasalligi, avtonom nerv tizimi, fitanik kislota, disavtonomiya, periferik neyropatiya, irsiy metabolik kasalliklar, vegetativ regulyatsiya, ortostatik gipotenziyaAbstract
Refsum kasalligi kam uchraydigan, autosom-retsessiv yo‘l bilan irsiylanadigan nevrometabolik patologiya bo‘lib, fitanik kislota almashinuvi buzilishi natijasida organizm to‘qimalarida ushbu moddaning ortiqcha to‘planishi bilan xarakterlanadi. Kasallikning asosiy klinik belgilari periferik polineyropatiya, retinit pigmentoza, eshitish pasayishi va teri o‘zgarishlari bilan ifodalansa-da, so‘nggi ilmiy tadqiqotlar avtonom nerv tizimi (ANT) zararlanishining muhim klinik va prognostik ahamiyatga ega ekanligini ko‘rsatmoqda. Avtonom disfunktsiya yurak-qon tomir tizimida ortostatik gipotenziya, yurak ritmi variabelligining pasayishi, ovqat hazm qilish tizimida motorika buzilishlari, termoregulyatsiya va terlash jarayonlarining izdan chiqishi bilan namoyon bo‘ladi. Ushbu maqolada Refsum kasalligida avtonom nerv tizimi shikastlanishining patogenetik mexanizmlari, klinik namoyon bo‘lish shakllari va diagnostik yondashuvlari zamonaviy ilmiy adabiyotlar asosida keng tahlil qilinadi. Avtonom buzilishlarni erta aniqlash va kompleks davolash bemorlarning hayot sifatini yaxshilash hamda asoratlar rivojlanishini kamaytirishda muhim ahamiyat kasb etadi.
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