I-neurofibromatosis yintlobo yesifo, i-multi-system disorder ngaphandle kokubandakanya nje amehlo, kodwa kunye nengqondo, iingxaki, amathambo kunye nesikhumba. Kukho iintlobo ezimbini ze-neurofibromatosis: NF1 (uhlobo 1) kunye ne- NF2 (uhlobo 2) . I-NF1 yindawo eqhelekileyo yesifo, emele ama-90 ekhulwini amatyala.
Abantu abanama-NF1 banesibonakaliso ezininzi ezinokuthi zibe khona ekuzalweni, kodwa ezininzi iimpawu neempawu zibonakaliswa ebusaneni.
Abo bahlala ne-NF2 bavame ukuvelisa iimpawu kunye neempawu kamva, phakathi kweminyaka engama-20 ukuya kwe-30. Ngezinye iinkcukacha i-NF1 ibizwa ngokuba yiVon Recklinghausen okanye i-neurofibromatosis. Ngezinye izikhathi i-NF2 ibizwa ngokuba yi-neurofibromatosis ephakathi.
Izimpawu kunye neMpawu
Abantu abanesifo se-neurofibromatosis hlobo 1 bangaba nezinto ezilandelayo:
- I-Cafe-au-lait macules: I- Cafe-au-lait macules i-skinly skin lesions ezibonakala kwi-95% yabantu abane-neurofibromatosis. Ezi zibhakabhaka ezimnyama zivakala ngokunyuka ngobukhulu kunye nenani ngexesha leminyaka yokuqala eyi-10 yobomi.
- Ukuqhawula isikhumba: Ukufakela kwesikhumba kudlalwa ngokuba ngumqondiso we-Crowe. Abantu abanesifo se-neurofibromatosis bahlala beqokelelwa kwiindawo zokuhlala kunye neengcawa. Kwamanye, ezi zikhonkwane zifunyenwe ngaphezu kweentloko zeepilisi, ngaphantsi kwamabele, nasentanyeni.
- I-bone ishintsho: Abantu abane-neurofibromatosis baxhomekeke ekukhuleni kwethambo okungavamile kwaye ngamanye amaxesha i-dysplasia yamathambo. I-syletal dysplasia ibangela isantya esifutshane kunye neengalo kunye nemilenze ukuba ingaxhomeki kunye nalo lonke umzimba.
Neurofibromatosis kunye neEyes
Abantu abanesifo se-neurofibromatosis bavame ukuvelisa izinto ezingaqhelekanga ezichaphazela ngqo amehlo.
- I-neurofibromas ye-cutaneous: I- cutaneous neurofibroma yiyona nto ibonisa uphawu lwekhumba kwi-NF1. I-neurofibromas iphakanyisiwe, izikhumba zesikhumba. I-neurofibromas ibonakala ekupheleni komntwana kwaye ikhulise ubungakanani kunye nombolo ebomini. I-neurofibromas ingaba enkulu kakhulu, ngamanye amaxesha ifikelela kumithamitha amahlanu. Ngokuqhelekileyo ababi buhlungu kodwa banokuthi batye kwaye babe nethenda kwibala. Xa zivela malunga neentsipheko zingabangela ukuvuvukala kunye nezifo ezifana ne- blepharitis . Zingabangela ukuphazamiseka kwesolidi ezifana ne-ptosis, apho ijwabu leso lixhomeke ngaphantsi kunokuba lifanele, kunye ne-ectropion, apho i-eyelid ephantsi iwa khona kwiso kwaye iyakwazi ukubonakaliswa kwi-atmosphere ngokungavamile.
- I-Lisch nodules: i- Lisch nodule iphakanyisiwe, izilonda ezinemibala ezibonakalayo kwi- iris . Oogqirha bamehlo banokubona ii-Lisch nodules emehlweni abantu abane-neurofibromatosis abaselula abaneminyaka emithandathu ubudala. Zibukeka njengezilwanyana ezincinci, zisesyhula, ezinobumba ezibamba ngaphandle kwe-iris. Ezi zinto zibalulekile ekujoliseni ukuxilongwa. Ngamanye amaxesha, ama-nodch aseLisch atholakala ngexesha lokuhlolwa kwamehlo phambi kokuba umntu afunyanwe ene-neurofibromatosis.
- I-hamartomas ye-astrocytic ye-Retinal: I-hamartomas ye- Retinal astrocytic yintsholongwane enobungozi ye-retina engakwazi ukukhula kwimbini. Ziyakwazi ukubandakanya iimbono ze-optic kodwa zisenokusasazeka ukuba zichaphazele i-macula, isikhungo se-retina. Ukuba ezi zinto zibandakanyeka, umboniso unganciphisa kwaye i-strabismus (i-eye turn) ingaba khona. Olu hlobo lwesifo sikhomba sisendaweni engasemva, okanye
- I-Optic endleleni ye-gliomas: Inani elinama- 15 ekhulwini labantwana abanama-NF1 baneengcambu zengqondo ezichaphazela indlela ye-optic, equka i-nertic optic njengoko iphuma emva kweso kwaye iphinda ibuyele engqondweni. Ngamanye amaxesha la mathambo angabangela i-proptosis. Iproptosis yimeko apho ubunzima bangela ukuba iliso liqhube phambili. I-Strabismus (ilungu lokujika) linokuthi lenzeke ngenxa ye-optic gliomas.
Unyango
I-neurofibromas ingaba yininzi kwinombolo okanye ivela kwiindawo ezincinci. Ukuba ezi zikhuni ziphakame kwiindawo eziphazamisayo ezibangela iingxaki, umzekelo kwindlu yetempileni, ziyakususwa. I-neurofibroma ethempelini inokubangela iingxaki ezinzima nje ukuzama ukugqoka iiglasi okanye izibuko zelanga. Ukususwa kokutshitshiswa kusebenza kakuhle kwizilonda ezodwa kodwa akunakwenzeka kwiimeko ezininzi ukususa inani elikhulu.
Abantu abanama-neurofibromas amaninzi ecaleni kweso kunye ne-ilepidi kufuneka bathathe uncedo olungakumbi ekusebenziseni ucoceko olufanelekileyo kule mimandla. Ukucoca nge-neurofibromas ejikeleze ijwabu leso kunokukhusela i-blepharitis kunye nezinye izifo zesikhumba.
Abantwana abahlakulela i-optic gliomas ayifuni unyango ngaphandle kokuba izibilini zibonisa ukukhula okukhawulezayo okanye ukuqhubela phambili. Ukuba oku kwenzeka, i-chemotherapy yonyango olukhethiweyo. Ngamanye amaxesha izilonda zengqondo zingabangela ukukhubazeka okuphuhlisayo okanye ukuqonda. Aba bantwana badinga ingqwalasela ekhethekileyo njengoko ezi zilonda zingabangela iziphene zendawo, ukuphulwa kwee-visuomotor kunye neengxaki zolwimi kunye nemiba yokuxhumanisa.
Iingxaki
Iingxaki ezimbalwa zingabonakala kubantu abaneNF2.
- I-Acoustic neuromas: I- neurofibromatosis i-2, i-NF2, ibangelwa ukuguqulwa kwimizimba ephazamisa ukukhula kwezidumbu. Oku kubangela ukwanda kwe-tissue ne-tumor ukukhula. Esinye sezibonakaliso eziqhelekileyo ze-NF2 yi-neuromas acoustic, okanye i-tumor echaphazela imbilini esivumela ukuba sive. Abantu abahluphekayo kule nto banokukhalaza ngeengxaki zokulinganisela, ukulahlekelwa kwindlebe kunye ne-tinnitus.
- I-Cataract : Iipesenti ezisibhozo zabantu abano-NF2 baya kuphuhlisa iintlobo ezimbini ze-cataract, i-post-subcapsular ne-corticalact post. Ezi zivame ukunyuka komzimba kodwa ama-20 ekhulwini amava anciphisa umbono ngenxa yabo.
- I-Optic nerve sheath meningiomas: malunga neepesenti ezingama-27 zabantu abane-NF2 baya kuba neentlungu ezichaphazela isigqubuthelo malunga neentsimbi ze-optic. Iimvumi ngokwabo zihlala zizihlamba kodwa ziyakwazi ukutshiza kwaye zifake imithwalo yemisipha kunye nemithambo yegazi kwi-nertic optic, ebangela ukulahleka kombono. Le meningiomas inokubangela ukuba iliso liqhube phambili kwaye lenze imithintelo yesisipha somzimba.
- Iimbumba ze-epiretinal: Abantu abahluphekayo kwi-NF2 kubonakala ngathi bakhupha izibilini ze-epiretinal. Iimbumba ze-Epiretinal ziyakhupha ezikhulayo kwi-retina. I-membrane ivame ukugxila kwi-macula. Ukuba ezi zivumelwano zengqamaniso, zingabangela ukuncipha okanye ukuphazamisa umbono.
Oko Okufanele Uyazi
I-neurofibromatosis yisifo esibalulekileyo esibangela ukukhula kwe-tumor kwiinkqubo ezininzi emzimbeni. Zombini i-NF1 kunye ne-NF2 inokuvelisa iimpawu zamehlo oogqirha bezilwanyana abanokuzikhupha kuzo ezo zikhokelela ekuxilongweni kwangaphambili. Nabani na osoliweyo wokuba neurofibromatosis kufuneka abe neemviwo zamehlo ezipheleleyo zonyaka ezibandakanya ukuhluthwa kweso.
Ubunzima beengxaki ezinxulumene neliso lwe-neurofibromatosis lunokuhluka ngokumangalisayo, nangaphakathi kwamalungu entsapho enye. Nangona kunjalo, kuba ichaphazela ezininzi iinkqubo zomzimba, aba bantu bavame ukutyelela iingcali ezininzi ezahlukahlukeneyo kubandakanya i-neurosurgeons, i-otolaryngologists, i-audiologists, i- optometrists / i-ophthalmologists , ne-neuroradiologists.
> Imithombo:
> Sowka, Joseph, Gurwood, Andrew, Kabat, Alan, Neurofibromatosis, p13-15, Juni 2016, Ukuhlaziywa kwe-Optometry, Incwadi yokuphathwa kwezifo zezifo, i-18th edition.