Neyrofibromatoz (Neurofibromatosis) - bu neyrofibromin mutatsiyasidan kelib chiqqan murakkab ko'p tizimli odam kasalligi. Neyrofibromatoz (Neurofibromatosis) asab tizimi bo'ylab tananing istalgan joyida o'sishi mumkin bo'lgan o'smalarni keltirib chiqaradi. Neyrofibromatoz (Neurofibromatosis) eng keng tarqalgan genetik kasalliklardan biri va autosomal dominant kasallikdir.
Neyrofibromatoz (Neurofibromatosis) ning umumiy belgilari orasida Lisch tugunlari (Lisch nodules) va neyrofibromalar deb ataladigan ko'zning rangli qismida jigarrang‑qizil dog'lar mavjud. Skolioz (scoliosis) – umurtqa pog'onasi egriligi, o'rganishdagi nuqsonlar, ko'rishning buzilishi, aqliy nuqsonlar, ko'plab kafe au lait dog'lari (café au lait spots) va epilepsiya hamroh bo'lishi mumkin.
Neurofibromatosis type I (NF-1) is a complex multi-system human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein, called neurofibromin, which is needed for normal function in many human cell types.
Cafe au lait macule Neurofibromatosis type 1 (NF-1) da ko'rilgan
Neurofibromatosis - asab tizimi va terida shish paydo bo‘lishiga olib keladigan holat. 1-toifa dominant tarzda meros bo‘lib, neurofibromas, café-au-lait spots, freckling, and optic gliomas kabi alomatlarni ko‘rsatadi. Tashxis klinik belgilarga asoslanadi. Boshqa tomondan, 2-tur bilateral vestibular schwannomas (VS) and meningiomas bilan belgilanadi, shuningdek, dominant tarzda meros qilib olinadi. Boshqaruv har ikki turdagi neurofibromatosis uchun zarur bo‘lganda muntazam monitoring va tibbiy davolanishni o‘z ichiga oladi. Neurofibromatosis is a neurocutaneous disorder characterized by tumors in the nervous system and skin. Neurofibromatosis types 1 and 2 are the most common and are distinct entities. Neurofibromatosis type 1, or von Recklinghausen disease, is an autosomal dominant disease. Neurofibromatosis type 1 presents with neurofibromas, cafe-au-lait macules, freckling, and optic gliomas. It is a clinical diagnosis. Neurofibromatosis type 2 (NF2) is a disease characterized by bilateral vestibular schwannomas (VS) and meningiomas. It has an autosomal dominant inheritance pattern. Treatment for neurofibromatosis types 1 and 2 is clinical monitoring and medical intervention when appropriate.
Neyrofibromatoz (Neurofibromatosis) ning umumiy belgilari orasida Lisch tugunlari (Lisch nodules) va neyrofibromalar deb ataladigan ko'zning rangli qismida jigarrang‑qizil dog'lar mavjud. Skolioz (scoliosis) – umurtqa pog'onasi egriligi, o'rganishdagi nuqsonlar, ko'rishning buzilishi, aqliy nuqsonlar, ko'plab kafe au lait dog'lari (café au lait spots) va epilepsiya hamroh bo'lishi mumkin.
Hozircha o'ziga xos davolash mavjud emas.