Neurofibromatosis ndi matenda omwe amachititsa kuti tumimba zizikula mozungulira mitsempha. Pali mitundu itatu ya matenda a neurofibromatosis: mtundu wa 1 (NF1), mtundu wa 2 (NF2) , ndi schwannomatosis. Anthu pafupifupi 100,000 a ku America ali ndi mtundu wa neurofibromatosis. Nthenda yotchedwa neurofibromatosis imapezeka mwa amuna ndi akazi a mafuko onse.
Nthenda yotchedwa Neurofibromatosis ya mtundu umodzi ikhoza kukhala yochokera muyeso yaikulu ya autosomal kapena ikhoza kukhala chifukwa cha kusintha kwa thupi kwa munthu.
Geni la mtundu wa neurofibromatosis mtundu 1 uli pa chromosome 17.
Zizindikiro
Mtundu wa Neurofibromatosis 1 ndi mtundu wochuluka wa matenda a mphutsi. Zimapezeka pafupifupi 1 mwa ana 4,000 obadwa. Zizindikiro za NF1 zikuphatikizapo:
- malo obiriwira (cafe-au-lait mawanga) pa khungu
- ziphuphu zozungulira mitsempha (yotchedwa neurofibromas)
- Zimatuluka m'mimba kapena m'mapiri
- kukula kwa iris ya diso (lotchedwa Lisch minofu kapena iris nyamadzi)
- ziphuphu pamphuno wa optic wa diso (optic glioma)
- kupsa mtima kwa msana (scoliosis)
- malformation a mafupa ena
Ana ambiri omwe ali ndi NF1 ali ndi zikuluzikulu kuposa mutu wamba ndipo ndizofupikitsa kuposa zowerengeka. Pafupifupi 50% ali ndi vuto la kulankhula, kulephera kuphunzira, kupweteka, kapena kutaya mtima. Anthu omwe ali ndi NF1 angakhalenso ndi mutu, kupweteka kwa mtima, kuthamanga kwa magazi, kapena matenda a mitsempha ya magazi (vasculopathy).
Kudziwa
Zizindikiro za NF1 zimakhalapo pakabereka kapena posakhalitsa, ndipo nthawi zambiri amakhalapo ali ndi zaka 10.
Kuti ana awoneke ndi NF1, ayenera kusonyeza zizindikiro ziwiri zomwe zili pamwambapa. Kuwonjezera pa kuunika kwa thupi, madokotala angagwiritse ntchito nyali zapadera kuti aziwone khungu la mabala a cafe-au-lait. Mu NF1, mawanga asanu ndi limodzi kapena ochulukirapo alipo, ndipo amayeza kuposa mamita asanu m'mimba mwa ana kapena oposa mamita awiri m'mimba mwa achinyamata komanso akuluakulu.
Maganizo opanga maginito (MRI), X-rays, computed tomography (CT), ndi mayesero ena angapangidwe kuti ayang'ane mafupa a m'mimba ndi mafupa osadziwika. Kuyeza kwa majeremusi ndi mayeso a magazi kungapangidwe kuti azindikire zolepheretsa mu jini la NF1.
Chithandizo
Madokotala sakudziwa momwe angalekerere zotupa kuti zisakule mu ubongo wa neurofibromatosis. Opaleshoni ingagwiritsidwe ntchito kuchotsa zotupa zomwe zikupweteka kapena mavuto ndi masomphenya kapena kumva. Mankhwala kapena mankhwala opatsirana pogwiritsa ntchito mankhwalawa angagwiritsidwe ntchito kuchepetsa kukula kwa zotupa. Mu NF1, ziphuphu zina zapfupa, monga scoliosis, zimatha kuchiritsidwa ndi opaleshoni kapena opaleshoni.
Zizindikiro zina monga kupweteka, kupweteka mutu, kapena kugwa kwa matenda amatha kusamalidwa ndi mankhwala kapena mankhwala ena.
Zotsatira:
> "Mapepala Owona za Neurofibromatosis." Kusokonezeka. 13 Dec 2007. National Institute of Neurological Disorders ndi Stroke.
> "Kuphunzira Za Neurofibromatosis." Matenda Odziwika Amtundu Wachibadwa. 27 Nov 2007. National Institute of Research Institute.