Ko te Neurofibromatosis he mate o te tangata te punaha maha-maha na te rerekeetanga o te neurofibromin. Neurofibromatosis ka puta he pukupuki ki te taha o te punaha nerve ka tupu ki nga waahi katoa o te tinana. Ko neurofibromatosis tetahi o nga mate ira tino noa me te mate autosomal dominant.
Ko nga tohu noa o te neurofibromatosis ko nga waahi parauri-whero i roto i te waahanga tae o te kanohi e kiia nei ko Lisch nodules me neurofibromas. Ko te scoliosis (te kopikopiko o te tuara), te haua ako, te mate matakite, te haua hinengaro, te maha o nga waahi café au lait me te mate uruta ka haere tahi ano.
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.
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Cafe au lait macule ka kitea i Neurofibromatosis type 1 (NF-1)
Ko te Neurofibromatosis he mate ka puta he pukupuku i roto i te punaha io me te kiri. Ko te momo 1 te nuinga o te tuku iho me te whakaatu tohu penei i ngā neurofibroma, café‑au‑lait spots, freckling, me ngā optic glioma. Ko te momo 2, he tohu bilateral vestibular schwannomas (VS) me meningiomas, he mea tuku iho ano. Ko te whakahaere he aroturuki auau me te maimoatanga hauora ina hiahiatia mō ngā momo neurofibromatosis e rua. 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.
Ko nga tohu noa o te neurofibromatosis ko nga waahi parauri-whero i roto i te waahanga tae o te kanohi e kiia nei ko Lisch nodules me neurofibromas. Ko te scoliosis (te kopikopiko o te tuara), te haua ako, te mate matakite, te haua hinengaro, te maha o nga waahi café au lait me te mate uruta ka haere tahi ano.
Karekau he maimoatanga motuhake i tenei wa.