Nthenda yotchedwa Neurofibromatosis ndi matenda, ma multi-system disorder kuposa maonekedwe okha, komanso ubongo, mitsempha, mafupa, ndi khungu. Pali mitundu iwiri ya matenda a ubongo: NF1 (mtundu 1) ndi NF2 (mtundu 2) . NF1 ndi mtundu wochuluka kwambiri wa matendawa, oimira 90 peresenti ya milandu.
Anthu omwe ali ndi NF1 kawirikawiri amakhala ndi zizindikiro zingapo zomwe zingakhalepo pakubereka, koma zizindikiro zambiri zimasonyeza kuyambira ali mwana.
Anthu omwe ali ndi NF2 amakhala ndi zizindikiro m'moyo wawo, kuyambira zaka 20 mpaka 30. NF1 nthawi zina imatchedwa Von Recklinghausen kapena peripheral neurofibromatosis. Nthaŵi zina NF2 imatchedwa "core neurofibromatosis".
Zizindikiro ndi Zizindikiro
Anthu omwe ali ndi neurofibromatosis mtundu 1 akhoza kukhala ndi zotsatirazi:
- Macules Cafe-au-lait macules: Machese ya Cafe-au-lait ndi zilonda zapakhungu zomwe zimapezeka ndi 95% mwa anthu omwe ali ndi matenda a neurofibromatosis. Zimdima zamdimazi zimawonjezeka kukula ndi chiwerengero pazaka 10 zoyambirira za moyo.
- Kuwombera khungu: Chikopa cha phungu chimatchedwa chizindikiro cha Crowe. Anthu omwe ali ndi matenda a neurofibromatosis nthawi zambiri amakhala ndi zokolola zazing'ono m'madera othamanga ndi ophulika. Zina mwazi zimapezeka pamwamba pa maso, pansi pa mabere, ndi pamutu.
- Thupi limasintha: Anthu omwe ali ndi matenda a neurofibromatosis amatha kuphulika mafupa komanso nthawi zina mafupa a dysplasia. Mafupa a dysplasia amachititsa msinkhu komanso mikono ndi miyendo kuti zikhale zosiyana ndi thupi lonse.
Neurofibromatosis ndi Maso
Anthu omwe ali ndi neurofibromatosis nthawi zambiri amakhala ndi zolakwika zomwe zimakhudza maso.
- Mitsempha yotchedwa neurofibromas: Khungu loperewera ndi khungu ndi chizindikiro cha khungu ku NF1. Matenda a m'magazi ndi okwera, khungu lonse. Matenda a ubongo amaonekera kumapeto kwa ubwana ndikuwonjezeka kukula ndi chiwerengero m'moyo. Matenda a m'magazi akhoza kukhala aakulu kwambiri, nthawi zina amafika masentimita asanu. Kawiri kaŵirikaŵiri si zopweteka koma zimatha komanso zimakhala zomvetsa chisoni. Pamene zimachitika m'maso mwake zimatha kuyambitsa kutupa ndi matenda monga blepharitis . Zikhoza kupangitsanso zopotoka za khungu monga ptosis, komwe khungu la chikopa limapachikidwa pamunsi kusiyana ndi momwe liyenera kukhalira, ndi ectropion, komwe khungu laling'ono limagwera kuchoka kumaso ndipo limatha kuonekera mlengalenga mwachilendo.
- Mitsempha ya Lisch: Lisch nodule amakulira, zilonda zamoto zomwe zimawonekera m'mwamba . Madokotala a maso amatha kuona mitsempha ya Lisch pamaso pa anthu omwe ali ndi ubongo wa mphutsi ali ndi zaka zisanu ndi chimodzi. Amawoneka ngati zilonda zazing'ono, zozungulira, zooneka ngati dome zomwe zimachokera ku iris. Izi zingakhale zofunikira kuti zithe kugwiritsidwa ntchito. Nthaŵi zina, mitsempha ya Lisch imapezeka panthawi yoyezetsa maso pamaso pa munthu kuti apeze kuti ali ndi neurofibromatosis.
- Maatartomas a Retinal astrocytic: Retinal astrocytic hamartomas ndi zotupa za retina zomwe zimatha kukhala m'maso onse awiri. Zitha kuphatikizapo mitsempha ya optic koma imatha kufalikira kuti iwononge macula, pakati pa retina. Ngati zigawozi zikuphatikizidwa, masomphenya angakhale otsika ndipo msangamsanga (diso limatembenuka) lingakhalepo. Mtundu woterewu uli patsiku, kapena
- Optic pathway gliomas: Oposa 15 peresenti ya ana omwe ali ndi NF1 ali ndi zotupa za ubongo zomwe zimakhudza njira ya optic, yomwe imaphatikizapo mitsempha ya optic pamene imachoka kumbuyo kwa diso ndikubwerera mmbuyo mu ubongo. Nthawi zina zotupazi zimayambitsa proptosis. Chotsitsimutsa ndi chikhalidwe chomwe chimapangitsa kuti maso ayambe kutsogolo. Strabismus (diso kutembenukira) ukhoza kuchitika chifukwa cha optic gliomas.
Chithandizo
Matenda a mtima amatha kukhala ochulukirapo kapena amapezeka m'magulu ang'onoang'ono. Ngati mitsempha yowonjezereka ikupezeka m'malo osokoneza omwe amachititsa mavuto, mwachitsanzo pa kachisi, akhoza kuchotsedwa opaleshoni. Nthenda ya ubongo yomwe ili pafupi ndi kachisiyo ingayambitse mavuto aakulu ndikuyesera kuvala magalasi oyenera kapena magalasi. Kuchotsa opaleshoni kumagwira ntchito zenizeni zenizeni koma sizingatheke nthawi zambiri kuchotsa chiwerengero chawo.
Anthu omwe ali ndi matenda ambiri a m'mitsempha omwe ali pafupi ndi maso ndi maso awo amafunika kusamala kwambiri pochita ukhondo m'maderawa. Kuyeretsa ziwalo za m'magazi pafupi ndi khungu lawo kumatha kuteteza matenda a blepharitis ndi matenda ena a khungu.
Ana omwe amapanga optic gliomas kawirikawiri samafuna chithandizo kupatula ngati zotupa zikuwonetsa kukula msanga kapena kupita patsogolo. Ngati izi zikuchitika, chemotherapy ndi chithandizo cha kusankha. Nthaŵi zina zilonda za ubongo zimenezi zingayambitse vuto lachidziwitso. Ana awa amafunikira chidwi chenicheni monga izi zowononga zingayambitse zolakwika zapangidwe, zowonongeka za visuomotor ndi mavuto a chinenero ndi zinthu zoyendetsa magalimoto.
Mavuto
Zovuta zingapo zingayambe mwa anthu omwe ali ndi NF2.
- Acoustic neuromas: Neurofibromatosis mtundu 2, NF2, umayambitsidwa ndi kusintha kwa jini komwe kumachepetsa kukula kwa zotupa. Izi zimachititsa kuti minofu yambiri iwonjezeke kwambiri. Chimodzi mwa zizindikiro zowonjezereka za NF2 ndizovuta kwambiri za neuromas, kapena chotupa chomwe chimakhudza mitsempha yomwe imatilola ife kumva. Anthu omwe amavutika ndi izi angadandaule ndi mavuto, kuchepa kwa kumva ndi tinnitus.
- Zoopsa : Anthu makumi asanu ndi atatu pa anthu 100 alionse omwe ali ndi NF2 adzakhala ndi mitundu iwiri ya cataracts, posterior subcapsular ndi cataracts. Izi kawirikawiri zimakhala ndi cataracts yofatsa koma pafupifupi 20 peresenti zinachitikira kuchepetsa masomphenya chifukwa cha iwo.
- Optic mitsempha sheath meningiomas: Pafupifupi 27 peresenti ya anthu omwe ali ndi NF2 adzakhala ndi zotupa zomwe zimakhudza chophimba pafupi ndi mitsempha ya optic. Matendawa amakhala oopsa koma amatha kupitiliza ndi kufalitsa mitsempha ya mitsempha ndi mitsempha ya mitsempha m'mitsempha ya optic, kuchititsa masomphenya kutaya. Meningiomas awa amachititsanso kuti diso liwoneke patsogolo ndipo limayambitsa zoletsedwa m'maso.
- Zilonda za m'mimba: Anthu omwe amavutika ndi NF2 amawonekeranso kuti amatha kukhala ndi ma membrane. Zilonda zapereteni ndizomwe zimakhala pamwamba pa retina. Nthanoyi imagwiritsidwa ntchito pamwamba pa macula. Ngati nembidzi izi zimagwirizanitsa, zikhoza kuyambitsa masomphenya otsika kapena osokonezeka.
Zimene Muyenera Kudziwa
Matenda a neurofibromatosis ndi matenda aakulu omwe amachititsa kukula kwa chifuwa mu machitidwe ambiri m'thupi. NF1 ndi NF2 zingapangitse zizindikiro za maso zomwe madotolo a maso amatha kuzipeza zomwe zidzatsogolera kuchipatala choyambirira. Aliyense amene akuganiza kuti ali ndi matenda a neurofibromatosis ayenera kukhala ndi mayesero a maso apachaka kuphatikizapo kutaya diso.
Kuwopsa kwa mavuto okhudza maso a mphuno ya ubongo kungasinthe kwambiri, ngakhale mwa mamembala a banja lomwelo. Komabe, chifukwa zimakhudza machitidwe ambiri a thupi, anthuwa nthawi zambiri amachezera akatswiri osiyanasiyana ophatikizapo opaleshoni, otolaryngologists, audiologists, optometrists / ophthalmologists , ndi neuroradiologists.
> Zotsatira:
> Sowka, Joseph, Gurwood, Andrew, Kabat, Alan, Neurofibromatosis, p13-15, June 2016, Kubwereza kwa Optometry, Buku lothandizira odwala matenda, ochulukitsa 18.