Neurofibromatosis inonzi genetic nervous system disorder inokonzera kuti tumarara dzikure kumativi ose. Kune zvitatu zveeurofibromatosis: rudzi rwekutanga (NF1), rudzi rwechipiri (NF2) , uye schwannomatosis. Anofungidzirwa kuti vanhu 100 000 vokuAmerica vane maitiro eurourobibatatosis. Neurofibromatosis inowanikwa munhurume nevakadzi vemarudzi ose.
Neurofibromatosis rwiyo 1 inogona kunge yakagara nhaka muzvinyorwa zvinotenderera zvakanyanya kana zvingangodaro nokuda kwekushanduka kwemajini mune mumwe munhu.
The gene for neurofibromatosis-type 1 inowanikwa pa chromosome 17.
Zviratidzo
Neurofibromatosis rwiyo 1 ndiyo inowanzosiyana neurofibromatosis. Izvo zvinoitika munenge 1 muvana vana 4 000. Zviratidzo zveNF1 zvinosanganisira:
- chiedza chitsvuku nzvimbo (cafe-in-milk spots) paganda
- tumha dzakapoteredza nerve (inonzi neurofibromas)
- zvinoputika mumarmpits kana munzvimbo dzinomera
- kukura pamusoro weziso (zvinonzi Lisch nodules kana iris hamartomas)
- matumbo pamusana we optic weziso (optic glioma)
- kusanzwisiswa kwemafuro emusana (scoliosis)
- kukanganiswa kwemamwe mapfupa
Vana vazhinji vane NF1 vane huru pane yakasvibirira mushure mutsva uye vashoma kudarika zviyero. Inenge 50% ine matambudziko ekutaura, hurema hwekudzidza, kugumburwa, kana kusagadzikana. Vanhu vane NF1 vanogonawo kuva nemusoro wepamusoro, kushaya mwoyo, kuwedzerwa kweropa, kana chirwere cheropa (vasculopathy).
Kuziva
Zviratidzo zveNF1 zvinowanzouya panguva yekuzvarwa kana nguva pfupi, uye nguva dzose inowanikwa nezera remakore gumi.
Kuti vana vaongororwe neNF1, vanofanira kuratidza zvishamiso zviviri zviri pamusoro apa. Mukuwedzera pane kuongorora kwepanyama, vanachiremba vanogona kushandisa mwenje chaiyo kuti vaongorore ganda re cafe-au-lait nzvimbo. MuNF1, matanhatu kana kupfuura aya aya aripo, uye anoyera kupfuura 5 mm muhupamhi muvana kana kupfuura 15 mm muhupamhi mune vechidiki nevakura.
Magnetic resonance imaging (MRI), X-rays, computed tomography (CT) inoongorora, uye dzimwe mimwe miedzo inogona kuitwa kutarisa mishonga yemaputi uye mapfupa asina kukodzera. Kuongorora maitiro eropa kuburikidza neropa kunogona kuitwa kuti uone kusakwana kweNF1 gene.
Kurapa
Vanachiremba havazivi kuti vangamisa sei maronda kubva pakukura muurosibibromatosis. Kuvhiya kunogona kushandiswa kubvisa matumire ari kukonzera marwadzo kana matambudziko nemaonero kana kunzwa. Kemikemikari kana marapiritsi emishonga angashandiswa kuderedza ukuru hwemakumbo. MuNF1, mamwe mapfupa emapfupa, akadai sa scoliosis, anogona kurapwa nekuvhiyiwa kana kusungirirwa.
Zvimwe zviratidzo zvakadai sekurwadziwa, kuora musoro, kana kugumburwa zvinogona kutarisirwa nemishonga kana zvimwe zvirwere.
Sources:
> "Neurofibromatosis Fact Sheet." Matambudziko. 13 Dec 2007. National Institute of Neurological Disorders uye Stroke.
> "Kudzidza Neurofibromatosis." Matambudziko anokonzerwa nemarariya. 27 Nov 2007. National Human Genome Research Institute.