Neurofibromatosis inonzi genetic, multi-system disorder pane kungosanganisira maziso, asiwo uropi, nerve, mapfupa, uye ganda. Pane marudzi maviri eurourofibromatosis: NF1 (rudzi rwekutanga ) uye NF2 (rudzi rwechipiri) . NF1 ndiyo inonyanya kurudzirwa chirwere ichi, inomiririra 90 muzana yematambudziko.
Vanhu vane NF1 vanowanzova nezvimwe zviratidzo zviratidzo zvinogona kunge zviripo pakuberekwa, asi zviratidzo zvakawanda nezviratidzo zvinoratidzika mudenga.
Vaya vane NF2 vanowanzotanga zviratidzo uye zviratidzo gare gare muupenyu, pakati pemakore makumi maviri nemakumi matatu. NF1 dzimwe nguva inonzi Von Recklinghausen kana chirwere chepurovibromatosis. NF2 dzimwe nguva inonzi inonzi neurofibromatosis.
Zviratidzo nezviratidzo
Vanhu vane vane neurofibromatosis type 1 vanogona kunge vane zvinhu zvinotevera:
- Cafe-au-lait macules: Cafe-en-lait macules ane mavara emaperembudzi anoonekwa mu 95% evanhu vane neurofibromatosis. Izvi zvinosvibirira zvinowedzera muhukuru uye nhamba mumakore gumi ekutanga ehupenyu.
- Kuvhara kweganda rekucheka: Chiganda chekucheka kweganda kakawanda kunonzi chiratidzo cheCrowe. Vanhu vane neurofibromatosis vanowanzove nokuunganidza zviduku mumatunhu eArmpit uye groin. Mune zvimwe, izvi zvinowanikwa zviri pamusoro pemaziso, pasi pezvipfuva, uye kumativi ose mutsipa.
- Bone rinoshanduka: Vanhu vane neurofibromatosis vanowanzova vasina kuwedzera masimba ekukura uye dzimwe nguva skeletal dysplasia. Skeletal dysplasia inokonzera nguva shoma uye maoko nemakumbo kuti zvive zvisina kufanana nemamwe muviri wose.
Neurofibromatosis uye Eyes
Vanhu vane neurofibromatosis vanowanzova nekusawirirana kunonyatsobata maziso.
- Izvozvo zvinonzi neurofibromas: Zvinokonzerwa neurofibroma ndiyo chiratidzo cheganda muNF1. Neurofibromas dzakakwirira, dzakapoteredza matumbu echando. Neurofibromas inoratidzika pakupera kwevana uye kuwedzera muhukuru uye nhamba muhupenyu hwose. Neurofibromas inogona kuva yakakura zvikuru, dzimwe nguva inosvika masentimita mashanu. Vanowanzova vasarwadza asi vanogona kuita uye vanove vane tsitsi kumubata. Kana zvikaitika zvakakomberedza maziso azvo zvinogona kukonzera kupisa uye zvirwere zvakadai se blepharitis . Zvinogonawo kukonzera kusvibiswa kwemaofidi zvakadai septosis, apo mazhizha anononoka pasi kudarika zvakakodzera, uye ectropion, apo maofidi akaderera anowira kure neziso uye anokwanisa kuzarurirwa kumhepo zvisina kufanira.
- Lisch nodule : Lisch nodule inokurudzirwa, zvipembenene zvinenge zvakagadzirwa zvinowanikwa muIris . Vanachiremba veziso vanogona kuona maziso emisidho ye Lisch mumaziso evanhu vane neurofibromatosis vachiri vaduku semakore matanhatu. Zvinotarisa sezvidiki, zviduku, zvimedu zvakasimudzika zvakatsvaira kubva kune iris. Izvi zvingave zvakakosha pakuongorora zvirongwa. Dzimwe nguva, mishonga yeLisch inowanikwa panguva yekutarisa kweziso pamberi pemunhu anonzi ane neurofibromatosis.
- Retinal astrocytic hamartomas: Retinal astrocytic hamartomas inonzi benign tumors ye retina inogona kukura mumeso maviri. Zvinogona kusanganisira mutsara we optic asi inogonawo kupararira kuti iite ma macula, iyo iri pakati pe retina. Kana zvikamu izvi zvakabatanidzwa, zviratidzo zvingave zvishoma uye sitirobheni (ziso rinotendeuka) ringangodaro riripo. Iko rudzi rwemarara inowanikwa mumamiriro ekupedzisira, kana
- Optic pathway gliomas: Vose vanosvika 15 muzana yevana vane NF1 vane uturu hwehupombwe hunochinja optic pathway, iyo inosanganisira murwere we optic sezvainobuda kumashure kweziso ndokudzokera zvakare muuropi. Dzimwe nguva matumire aya anogona kukonzera proptosis. Proptosis ndiyo mamiriro ayo mashoma anoita kuti ziso riwedzere mberi. Strabismus (ziso rinoshanduka) rinogonawo kuitika semugumisiro we optic gliomas.
Kurapa
Neurofibromas inogona kuva yakakura munhamba kana kuitika mumakumbo maduku. Kana izvi zvikwata zvinokwira zvikaitika munzvimbo dzisingabvumi dzinokonzera matambudziko, semuenzaniso pamwe netembere, dzinogona kuvhiyiwa chirwere. A neurofibroma pamwe netembere ingakonzera matambudziko makuru achiedza kuvhara magirazi kana magirazi. Kugadziriswa kushandiswa kunoshanda zvakanaka kune zvipembenene zvakasara asi hazvibviri mumatambudziko akawanda kubvisa nhamba yakawanda yavo.
Vanhu vane majobbromas akawanda akakomberedza ziso uye eyelidhi vanofanira kutora zvakanyanya mukushandisa uhu hwakanaka munzvimbo idzi. Kuchenesa kwakapoteredza maurofibromas akakomberedza maoyelidhi kunogona kudzivirira blepharitis nedzimwe zvirwere zveganda.
Vana vanosimbisa optic gliomas kazhinji havadi kurapwa kunze kwekuti matumire anoratidza kukurumidza kukura kana kufambira mberi. Kana izvi zvichiitika, chemotherapy ndiyo kurapa kusarudzwa. Dzimwe nguva uropi hutachiona hunogona kukonzera kukura kana kukanganisa. Vana ava vanoda kunyatsotarisiswa sezvo izvi zvinokonzera kukonzera kukanganisa kwepakati, zvirwere zvekuona uye zvinetso zvemutauro uye magetsi ekubatanidza.
Matambudziko
Zvinetso zvishomanana zvinogona kuitika kune vanhu vane NF2.
- Acoustic neuromas: Neurofibromatosis type 2, NF2, inokonzerwa nekuchinja kwemugene kunoderedza kukura kwemakumbo. Izvi zvinokonzera kupererwa kwehutano hwemutsipa uye chirwere chokukura. Chimwe chezvinhu zvinowanzozivikanwa zveNF2 is acoustic neuromas, kana tumarara inobata mutsara inotitendera kuti tinzwe. Vanhu vanotambura neizvi vanogona kunyunyuta nezvehutano hwematambudziko, kunzwa kurasikirwa uye tinnitus.
- Kushungurudza : makumi masere kubva muzana yevanhu vane NF2 vachakudziridza maitiro maviri emaronda, posterior subcapsular uye cataracts. Izvi zvinowanzotadza kuva nhengo dzemahara asi makumi maviri kubva muzana zvakaderera maonero nekuda kweivo.
- Optic nerve sheath meningiomas: Inenge 27 muzana yevanhu vane NF2 ichava nemakumbo anokanganisa chifukidzo chakakomberedza mutsara. Izvo zvipembenene pachavo zvinowanzoshaya bonde asi zvinogona kupfuurira mberi uye zvinomesa mitsipa yeropa nemidzi yeropa mumutsara we optic, zvichikonzera kurasikirwa kwemaonero. Iyi meningiomas inogonawo kukonzera ziso kuti rifambe mberi uye rinokonzera maziso emisungo maziso.
- Epiretinal membrane: Vanhu vanotambura neNF2 vanoitawo sevari nyore kukudziridza zvikamu zveperetinal membrane. Epiretinal membrane ndiyo membrane inokura pamusoro we retina. Iyo membrane inowanzotarisirwa pamusoro pe macula. Kana izvi zvibvumirano zvikabatana, zvinogona kukonzera kuderera kana kutsausa maonero.
Zvaunofanira Kuziva
Neurofibromatosis chirwere chakakomba chinokonzera kuora kwekukura mumitemo yakawanda mumuviri. Zvose zviviri NF1 neNF2 zvinogona kubudisa zviratidzo zveziso izvo vanachiremba vemaziso vanogona kutora pane izvo zvichaita kuti vaongororwe. Munhu wose anofungidzirwa kuti ane neurofibromatosis anofanira kuva neongororo yegore yakakwana yakareba kusanganisira kuwedzera kweziso.
Kuoma kwematambudziko anokonzerwa neziso eurostibromatosis kunogona kusiyanisa zvinoshamisa, kunyange mukati memhengo yemhuri imwechete. Zvisinei, nokuti inobata miitiro yakawanda yemaviri, vanhu ava vanowanzoshanyira nyanzvi dzakawanda dzakasiyana-siyana kusanganisira neurosurgeons, otolaryngologists, audiologists, optometrists / ophthalmologists , uye neuroradiologists.
> Sources:
> Sowka, Joseph, Gurwood, Andrew, Kabat, Alan, Neurofibromatosis, p13-15, June 2016, Ongororo yeOptometry, Bhuku reOicular disease management, 18th edition.