Uke waqaphela amabala amaningi ansundu akhanyayo esikhumbeni sakho, noma emzimbeni wengane yakho? Mhlawumbe ubona amaqhubu amancane ngaphansi kwesikhumba? Nakuba abantu abaningi becabanga ukuthi lokhu kuyinto evamile, ngezinye izikhathi kungaba izimpawu zesimo sofuzo esibizwa ngokuthi 'i-Neurofibromatosis Type 1', noma i-NF1 ngamafuphi. Ungakhathazeki, yize igama lizwakala liyesabeka, kuyisimo esilawulekayo. Namuhla, sizoxoxa ngakho konke ngendlela elula neqondakala kalula.
Kalula nje, iyini i-NF1?
I-NF1 yisimo sofuzo. Ithinta kakhulu isikhumba sethu kanye nohlelo lwethu lwezinzwa (okungukuthi, ubuchopho, umgogodla, kanye nemizwa emzimbeni wonke). Ibangela ushintsho oluncane enkambisweni elawula ukukhula kwamaseli emzimbeni wethu. Cabanga ngayo 'njengeswishi' emzimbeni wethu elawula ukuhlukaniswa kwamaseli. Umuntu one-NF1 unesici esincane kulolu shintsho. Ngenxa yalokho, amanye amaseli ahlukana ngokushesha kakhulu futhi akhe amathumba.
Lezi zimila zivame ukukhula emithanjeni. Yingakho sizibiza ngokuthi ama-neurofibromas . Into ebalulekile ukuthi iningi lalezi zimila azinabungozi . Lokho kusho ukuthi aziwona umdlavuza. Lezi zimila zingakhula emithanjeni ebuchosheni, emgogodleni, nasesikhumbeni. Kungenzeka ukuthi uke wezwa udokotela wakho ebiza lesi simo ngokuthi "isifo sikaVon Recklinghausen." Lelo elinye igama laso.
Ivame kangakanani i-NF1?
I-NF1 uhlobo oluvame kakhulu lwe-neurofibromatosis. Kubikwa ukuthi ama-96% azo zonke iziguli awela kulolu hlobo. Emhlabeni wonke, kulinganiselwa ukuthi cishe ingane eyodwa kwezingu-3,000 ezisanda kuzalwa ingaba ne-NF1. Lokhu kusho ukuthi akuyona inkinga engavamile kakhulu.
Yiziphi izimpawu eziyinhloko ze-NF1?
Izimpawu ze-NF1 zibangelwa yizimila esikhulume ngazo ngaphambilini, ezicindezela imizwa. Kodwa akuwona wonke umuntu onezimpawu ezifanayo. Abanye abantu banezimpawu ezimbalwa kakhulu, kanti abanye bangase bathinteke kakhulu. Ake sibheke izimpawu eziyinhloko.
| Isibonakaliso | Incazelo elula |
|---|---|
| Izindawo ze-Cafe au lait | Lokhu kufana nombala onsundu okhanyayo ovela ekungezeni ubisi oluncane ekhofini lakho. Kuwuhlobo lwendawo eyisicaba ebusweni besikhumba. Ukuze kutholakale ukuthi unalesi sifo, ukuba namabala angaphezu kwayisithupha ngokuvamile kubhekwa njengesici esibalulekile. |
| Ama-Neurofibromas | Izimila zemizwa ezakheka ngaphansi kwesikhumba. Lezi zingavela noma kuphi emzimbeni. Ezinye zincane njenge-pea, kanti ezinye zinkulu. Zingase zibe mnene uma uzithinta noma ziqine kancane. |
| Amachashaza emakhwapheni nasezinsinini | Isici esihlukile salesi sifo ukuvela kwamabala amancane (ama-freckles) emakhwapheni, embotsheni, futhi ngezinye izikhathi ngaphansi kwamabele abesifazane. |
| Izinguquko emehlweni | Amaqhubu amancane ansundu (amaqhubu e-Lisch) angavela e-iris yeso. Futhi, amaqhubu (ama-optic gliomas) angavela emsipheni oxhumanisa iso nobuchopho. Lokhu kungabangela izinkinga zokubona. |
| Izinkinga zamathambo | Izinto ezifana ne-scoliosis, imilenze egobile, ikhanda elikhulu kunejwayelekile (i-macrocephaly), kanye nobude obufushane kungabonakala. |
| Izinkinga zokunaka | Ezinye izingane kanye nabantu abadala zingase zibe nezimo ezifana nesifo sokungakwazi ukugxilisa ingqondo (ADHD). |
| Ubuhlungu | Ezindaweni lapho kuvele khona izimila, zingadala ubuhlungu ngenxa yokucindezelwa kwemizwa. Zingathinta nokusebenza kwezinye izitho zomzimba. |
Into ebalulekile ukuthi akuzona zonke lezi zici ezenzeka kumuntu oyedwa. Futhi akuzona zonke ezibonakala lapho umuntu ezalwa. Ezinye zezici ziqala ukuvela lapho umuntu ekhula.
Yini ebangela i-NF1?
Lokhu kubangelwa ushintsho oluncane kakhulu ezakhiweni zethu zofuzo. Uma sikhuluma iqiniso, kungukuguquka kwezakhi zofuzo okuthiwa `neurofibromin 1`. Le zakhi zofuzo ziyala umzimba wethu ukuthi wenze iphrotheni ebizwa ngokuthi `neurofibromin`. Le phrotheni ifana `nebhuleki` elawula izinga lapho amaseli emzimbeni wethu ehlukana khona. Siphinde sikubize ngokuthi `(isivimbeli se-tumor)`.
Ku-NF1, ngenxa yephutha emiyalweni ekulesi sakhi sofuzo, iphrotheni ye-neurofibromin ayikhiqizwa kahle. Lokhu kusho ukuthi 'ibhuleki' ayisebenzi kahle. Ngenxa yalokho, amanye amangqamuzana ahlukana ngokungalawuleki futhi akhe izimila.
Kunezindlela ezimbili lolu shintsho lwezakhi zofuzo olungenzeka ngazo:
1. Ifa elivela kubazali: Uma omunye umzali ene-NF1, ingane inethuba elingu-50% lokuthola lesi simo njengefa.
2. Ukwenzeka okungahleliwe: Cishe ingxenye yeziguli ze-NF1 azinawo umlando womndeni. Lokhu kusho ukuthi noma abazali bengenaso lesi simo, ushintsho lungenzeka ngokungahleliwe ngesikhathi sokukhiqizwa kwezakhi zofuzo emzimbeni wengane.
Yiziphi izinkinga ezingaba khona ze-NF1?
Nakuba abantu abaningi bengabi nezinkinga ezinkulu, okulandelayo ngezinye izikhathi kungenzeka:
- Ukulahlekelwa umbono (ngenxa yezimila ze-optic glioma)
- Ukuphuka kwamathambo noma ukukhubazeka kwamathambo
- Ukulimala kwemizwa
- Umfutho wegazi ophezulu (umfutho wegazi ophakeme)
- Ukuphinda kwesisu ngisho nangemva kokwelashwa
- Ukuzethemba okuphansi ngenxa yokukhathazeka ngokubukeka komuntu
Nakuba lezi zimila ngokuvamile zingewona umdlavuza, akuvamile ukuthi ezinye izimila ze-neurofibroma zibe umdlavuza. Yingakho kubalulekile ukuhlolwa ngudokotela wakho njalo.
Itholakala kanjani i-NF1?
Udokotela uzoqala akuhlole ukuze athole umbono wesifo. Udokotela uzohlola isikhumba sakho ngokucophelela ukuze athole amabala, izigaxa, njll. Ngaphezu kwalokho, bangenza izivivinyo ukuqinisekisa ukuxilongwa.
- Ukuhlolwa kwezithombe: Ukuhlolwa okufana `(MRI)`, `(X-ray)` noma `(CT scan)` ukuze kubonakale ukuthi kukhona yini izimila emzimbeni.
- Ukuhlolwa kwezakhi zofuzo: Ukuhlolwa kwegazi ukuqinisekisa ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-`NF1`.
- Ukuhlolwa kwamehlo: Ukuhlolwa kwamehlo akho nguchwepheshe ukuze kuhlolwe amaqhubu e-Lisch.
Lesi sifo sivame ukutholakala lapho umuntu esemdala. Lokhu kungenxa yokuthi, njengoba sishilo ekuqaleni, ezinye izimpawu (isibonelo, amaqhubu ngaphansi kwesikhumba) ziqala ukuvela lapho umuntu esekhulile.
Yiziphi izindlela zokwelapha i-NF1?
Into ebaluleke kakhulu okufanele uyisho kuqala ukuthi,Akukho ukwelashwa kwe-NF1 okwamanje. Kodwa ungesabi. Kunezindlela eziningi zokwelapha ezingakusiza ukuphatha izimpawu zakho futhi uphile impilo ephumelelayo neyanelisayo. Ukwelashwa kuncike ohlotsheni lwezimpawu onazo.
- Ukuhlinzwa: Amathumba abuhlungu, acindezela imizwa, noma aphazamisa ukubukeka angasuswa ngokuhlinzwa.
- Ukwelashwa komdlavuza: Uma isimila siba umdlavuza, kunikezwa ukwelashwa okufana "nokwelashwa ngamakhemikhali".
- Ukwelashwa kwamathambo: Ukuhlinzwa noma izibambo zokubopha zisetshenziselwa izinto ezifana nokuhlanganiswa komgogodla.
- Imithi: Manje sekukhona imithi ethile, njenge-selumetinib, yokulawula ukukhula kwesimila. Imithi isetshenziswa futhi ekwelapheni izimo ezifana ne-ADHD.
Ukubaluleka kokuhlolwa njalo kwezokwelapha
Kubalulekile ukuthi abantu abane-NF1 babone udokotela okungenani kanye ngonyaka ukuze bahlolwe ngokuphelele. Kufanele futhi bahlolwe amehlo abo kanye nomfutho wegazi njalo ngonyaka. Lokhu kuzobasiza ukuthi babone noma yiziphi izinkinga ezintsha kusenesikhathi futhi baqale ukwelashwa.
Kufanele ubonane nini nodokotela?
Uma usola ukuthi wena noma ingane yakho ninezimpawu ze-NF1, ikakhulukazi uma nibona okulandelayo, qiniseka ukuthi nibona udokotela.
- Ukuba nezindawo ezingaphezu kweziyisithupha ze-café-au-lait (ezinombala wekhofi).
- Isikhumba siyashintsha noma siqhume ngaphandle kwesizathu.
- Izinguquko embonweni.
Uma usuvele waziwa ukuthi une-NF1, uma uzwa ubuhlungu obandayo, ukukhula okusheshayo kwezimila, noma izimpawu ezintsha, yazisa udokotela wakho ngokushesha.
Umlayezo Wokuya Nawe Ekhaya
- I-NF1 yisimo sofuzo esibangela izilonda zesikhumba kanye nezimila emithanjeni. Iningi lalezi zimila aziwona umdlavuza.
- Lesi simo singazuzwa kubazali, noma singavela ngokungahleliwe ngaphandle kwanoma ubani emndenini.
- Izimpawu ziyahlukahluka kakhulu kumuntu nomuntu. Futhi, akuzona zonke izimpawu ezibonakala ngesikhathi esisodwa, kodwa ziyavela ngokuhamba kwesikhathi.
- Nakuba i-NF1 ingelapheki ngokuphelele, kunezindlela eziningi zokwelapha ezingasiza ekulawuleni izimpawu futhi zikuvumele ukuthi uphile impilo enhle. Ukuhlolwa kwezokwelapha minyaka yonke kubaluleke kakhulu.
- Kuvamile ukuzizwa ungakhululekile futhi udabuke ngamathegi esikhumba namaqhubu. Ungalokothi unqikaze ukukhuluma nodokotela wakho noma umeluleki wezempilo yengqondo ngalokhu.
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