Neurofibromatosis yog tshwm sim los ntawm caj ces tsis xws luag (mutations) uas tau dhau los ntawm niam txiv los yog tshwm sim ntawm kev xeeb tub. Cov noob tshwj xeeb koom nrog yog nyob ntawm hom neurofibromatosis: NF1. NF1 noob nyob rau ntawm chromosome 17.
Nurufibromatosis dhau ntawm caj ces li cas?
Neurofibromatosis hom 1 yog suav tias muaj autosomal dominant qauv ntawm qub txeeg qub teg. Cov neeg uas muaj tus mob no yog yug los nrog ib daim ntawv hloov pauv ntawm NF1 noob nyob rau hauv txhua lub cell. Hauv ib nrab ntawm cov xwm txheej, cov noob hloov pauv tau txais los ntawm niam txiv cuam tshuam.
YYuav ua li cas neurofibromatosis tshwm sim?
NF1 yog tshwm sim los ntawm mutations hauv cov noob uas tswj kev tsim cov protein hu ua neurofibromin(neurofibromin 1). Cov noob no ntseeg tau ua haujlwm raws li cov qog nqaij hlav. Hauv kwv yees li 50% ntawm cov neeg uas muaj NF1, qhov teeb meem tshwm sim los ntawm cov noob hloov pauv uas tshwm sim rau qhov tsis paub tseeb (kev hloov pauv hloov pauv hloov pauv).
Nrofibromas loj hlob nyob qhov twg?
Neurofibromas tuaj yeem loj hlob ntawm cov hlab ntsha hauv daim tawv nqaij (cutaneous neurofibroma), hauv qab ntawm daim tawv nqaij (subcutaneous) lossis tob hauv lub cev, suav nrog hauv plab, hauv siab thiab qaum. Neurofibromas tuaj yeem loj hlob tsis tu ncua. Sporadic neurofibromas feem ntau loj hlob ntawm daim tawv nqaij.
keeb kwm ntawm neurofibromatosis yog dab tsi?
Cov neuromas ntawm NF1 tau nthuav dav thawj zaug los ntawm Smith hauv 1849, tab sis Frederick von Recklinghausen tau lees paub nrog nws qhov kev tshawb pom thiab tau tsim lub npe ntawm qhov teeb meem hauv xyoo 1882. NF1 kev tshawb fawb dav zuj zus. Nyob nruab nrab ntawm 1909 thiab 1990, vim yog qhov kev kuaj pom tsis zoo ntawm Tus Neeg Hlau, Joseph Merrick.
