Ingabe ulahlekelwe ukuzwa ngokuzumayo wazizwa unesiyezi? Ingabe uzwa umsindo ezindlebeni zakho? Ngisho noma ucabanga ukuthi lezi yizinto ezivamile, ngezinye izikhathi ngemuva kwalezi zinto kungase kube nesifo esingakazwa kakhulu ngaso, kodwa kufanele siqaphele. Namuhla sikhuluma ngesifo esinjalo. Lesi sifo yi-Neurofibromatosis Type 2, noma i-NF2 ngamafuphi.
Kalula nje, iyini i-Neurofibromatosis Type 2 (NF2)?
I-NF2 yisimo sofuzo esithinta uhlelo lwethu lwezinzwa. Sibangelwa ushintsho ku-gene olulawula ukukhula kwamaseli emzimbeni wethu. Lolu shintsho ku-gene lubangela ukuthi umzimba ukhiqize amaseli amaningi kakhulu. Lawa maseli angaphezulu angaqongelela futhi akhe amathumba.
Kodwa ungakhathazeki, iningi lala maqhubu alinabungozi , okusho ukuthi awawona umdlavuza. La maqhubu akheka kakhulu ku:
- Izinzwa ezingaphandle ziyizinzwa ezifinyelela ezingxenyeni zomzimba wethu, njengezitho zomzimba.
- Ulwelwesi oluphakathi kogebhezi lwethu nobuchopho (ama-meninges).
- Umgogodla.
- Imizwa exhumanisa ubuchopho nendlebe yangaphakathi, esiza ngokuzwa kanye nokulinganisela komzimba.
I-NF2 yisimo esiseqenjini lezifo ezibizwa ngokuthi i-Neurofibromatosis. Leli qembu lezifo lithinta kakhulu isikhumba sethu kanye nesistimu yezinzwa.
Sivame kangakanani lesi simo se-NF2 emphakathini?
Lesi yisimo esingavamile. Ngokwezibalo, i-NF2 ithinta cishe ingane eyodwa kwezingu-33,000 ezizalwa emhlabeni wonke. Cishe u-3% wabo bonke abaguli abatholakale benesifo se-neurofibromatosis yiziguli ze-NF2.
Ziyini izimpawu ze-NF2?
Izimpawu ze-NF2 zingahluka kumuntu nomuntu. Ziya ngokuthi izimila zikuphi emzimbeni wakho nokuthi zikhulu kangakanani. Iningi labantu liqala ukuzwa izimpawu ezibangelwa izimila ezisemizweni exhumanisa indlebe nobuchopho.
Ake sibheke lezi zimpawu ukuze siziqonde kahle:
| Isigaba sezici | Izimpawu ezivame ukubonakala |
|---|---|
| Izimpawu zokuqala ezihlobene ne-auditory nerve | |
| Izinkinga zokulinganisela | Isiyezi esingazelelwe |
| Ubunzima bokuzwa | Ukulahlekelwa kancane kancane kokuzwa |
| Ukukhala ezindlebeni | Ukuzwa umsindo wokukhala ezindlebeni (i-Tinnitus) |
| Ezinye izimpawu ze-neurological | |
| Ezinye izici |
|
Izimpawu zivame ukuqala ukuvela phakathi kweminyaka yobuntwana kanye neminyaka engama-30. Kodwa lesi simo singathinta noma ubani kunoma yimuphi ubudala. Kwabantu abadala, imizwa exhumanisa indlebe nobuchopho ivame ukuthinteka kuqala. Yingakho izinkinga zokuzwa ziqala ukuvela. Nokho, ezinganeni, izimila zivame ukuvela ebuchosheni noma emgogodleni. Uma izimpawu zivela ebuntwaneni noma ebusheni, kungase kubonise ukuthi lesi sifo sibi kakhulu.
Yiziphi izinhlobo zezimila ezikhula ku-NF2?
Kunezinhlobo eziningi ezahlukene zamathumba angakhula ku-NF2. Ake siwabheke ngokushesha.
| Uhlobo Lwesimila | Kalula nje... |
|---|---|
| AmaSchwannoma | Lezi yizimila zesimiso sezinzwa ezikhula ngamaseli abizwa ngokuthi iSchwann. Zivame ukukhula ezinzwaneni ezixhumanisa ubuchopho nendlebe yangaphakathi (i-vestibular schwannomas). Zingakhula futhi ezinzwaneni ezilawula ukunyakaza kwamehlo, ukunyakaza kolimi, kanye nokugwinya. |
| Ama-Meningioma | Uhlobo lwesimila esakheka olwelwesini oluvikelayo (ama-meninges) phakathi kobuchopho nogebhezi. |
| Ama-glioma | Lezi uhlobo lwesimila sobuchopho esikhula emaselini abizwa ngokuthi ama-glial cells. Ngokuvamile zakheka eduze kwezinzwa ze-optic. |
| Ama-Ependymoma | Lolu futhi uhlobo lwe-glioma. Lukhula ebuchosheni nasemgogodleni. Luvela emaseli enza uketshezi lwe-cerebrospinal (CSF) ebuchosheni nasemgogodleni. |
Kungani i-NF2 ikhula? Iyini imbangela?
Isizathu esiyinhloko salokhu ushintsho ku-gene ebizwa ngokuthi i-Neurofibromin 2 (NF2) emzimbeni wethu. Le gene isiza ekwakheni iphrotheni ebizwa ngokuthi 'i-merlin'. Umsebenzi oyinhloko wale phrotheni ukumisa ukukhula kwezimila. Lokho kusho ukuthi iyisicindezeli sesimila .
Ngakho-ke, uma kukhona iphutha kulesi sakhi sofuzo se-NF2, iphrotheni 'ye-Merlin' ayikhiqizwa kahle. Bese kuthi amanye amangqamuzana emzimbeni wethu ahlukane ngokungalawuleki, aphindaphindeke, bese ehlangana ndawonye ukuze akhe amathumba.
Lokhu kuhlukahluka kwezakhi zofuzo kungazuzwa kubazali kuya ezinganeni. Lokhu kubizwa ngokuthi iphethini elibusayo le-autosomal. Kodwa kubantu abaningi, akulona ifa. Lokhu kusho ukuthi lokhu kuhlukahluka kwezakhi zofuzo kungaba khona nasekukhulelweni, ngaphandle komlando womndeni.
Yiziphi izinkinga ezingaba khona ngenxa yalesi simo?
Uma i-NF2 ingalawulwa, kungase kube nezinkinga ezithile. Lokhu kufaka phakathi:
- Ukulahlekelwa ngokuphelele kokuzwa
- Ukulahlekelwa umbono
- Ukulimala kwemizwa okungapheli
- Ukwakheka koketshezi ebuchosheni (i-hydrocephalus)
Nakuba lezi zimila zingewona umdlavuza, kunethuba elincane lokuthi ezinye izimila ze-NF2 zingaba umdlavuza, akuvamile kakhulu. Ngakho-ke, ukuhlolwa njalo kwezokwelapha kubaluleke kakhulu.
I-NF2 itholakala kanjani?
Uma uya kudokotela, uzoqala akuhlole kahle, akubuze ngezimpawu zakho nokuthi ukhona yini emndenini wakho oke waba nalesi sifo. Ngemuva kwalokho, angenza izivivinyo eziningana ukuqinisekisa ukuthi unesifo:
- Iskeni se-MRI (Magnetic Resonance Imaging): Lokhu kungabona ngokucacile izimila ohlelweni lwezinzwa kanye nesikhumba.
- Ukuhlolwa kokuzwa: Hlola izinga lakho lokuzwa.
- Ukuhlolwa kwamehlo: Hlola ama-cataract noma ezinye izinkinga zamehlo.
- Ukuhlolwa kofuzo: Ukuqinisekisa ukuthi kukhona yini iphutha ku-gene ye-NF2.
Yiziphi izindlela zokwelapha i-NF2?
Akukho ukwelashwa kwalokhu okwamanje. Kodwa ungakhathazeki, manje kunezindlela eziningi ezithuthukisiwe zokuxilonga, ukwelapha, nokuphatha lezi zimila. Udokotela wakho uzokhetha ukwelashwa okukulungele. Izindlela zokwelapha zingahluka kumuntu nomuntu.
Nazi ezinye zezindlela zokwelapha eziyinhloko:
- Ukuhlinzwa: Ukususwa kwezimila ezibangela izimpawu ngokuhlinzwa. Ukuhlinzwa kusetshenziselwa nokususa ama-cataract.
- Ukwelashwa ngamakhemikhali noma ngemisebe: Lokhu kwelashwa kusetshenziselwa ukunciphisa usayizi wamathumba athile. Ukwelashwa ngemisebe nge-stereotactic kuyindlela yokwelapha ngemisebe ethuthukisiwe.
- Izinsiza zokuzwa nokubona: Abantu abanenkinga yokuzwa bangasebenzisa amadivayisi anjenge-'Hearing aids', 'cochlear implants' noma 'i-auditory brainstem implants'. Izinto ezifana nezibuko zamehlo zingasiza ngezinkinga zokubona.
- Ezinye izinsiza: Uma unenkinga yokulinganisela nokuhamba, ungasebenzisa amadivayisi okunyakaza.
- Imithi: Udokotela unikeza imithi yokulawula izimpawu ezifana nobuhlungu.
Into ebalulekile ukuthi ngezinye izikhathi, uma ama-cyst engakubangeli izinkinga ezinkulu, udokotela wakho angase anqume ukungazilaphi futhi aziqaphe njalo. Ngakho-ke, kubalulekile ukuhlolwa ngokomzimba, ukuskena kwe-MRI, kanye nokuhlolwa kwezindlebe namehlo okungenani kanye ngonyaka.
Ngingayibona nini udokotela?
Uma unesinye noma ngaphezulu kwalezi zimpawu ezilandelayo, qiniseka ukuthi ubona udokotela.
- Ushintsho ekubukeni.
- Ukuzwa kuyashintsha noma ukukhala ezindlebeni.
- Ubuthakathaka bemisipha noma ukugoba kobuso.
- Amaqhubu noma amabala amasha esikhumba.
- Ikhanda elibuhlungu njalo.
- Ubuhlungu ezithweni ngaphandle kwesizathu.
- Ukuba nesithuthwane (ukuxhuzula).
Ngokuvamile, izinguquko ekuzweni noma ekuboneni yizimpawu zokuqala zalesi sifo. Ngakho-ke, uma uhlangabezana nanoma yiziphi zalezi zimpawu, funa iseluleko sezokwelapha ngokushesha.
Umlayezo Wokuya Nawe Ekhaya
- I-Neurofibromatosis Uhlobo 2 (NF2) yisimo sofuzo esibangela ukwakheka kwezimila ezingezona umdlavuza ohlelweni lwezinzwa.
- Ukulahlekelwa ukuzwa, isiyezi, kanye nokukhala ezindlebeni (i-tinnitus) yizimpawu ezivame kakhulu zokuqala.
- Nakuba kungekho ikhambi lalesi sifo, kunezindlela eziningi ezithuthuke kakhulu zokulawula izimpawu nokwelapha izimila.
- Ngemva kokuba isifo sesitholakale, kubaluleke kakhulu ukuba ngaphansi kokubhekwa njalo kwezokwelapha, okuhlanganisa ukuskena kwe-MRI, ukuhlolwa kwezindlebe namehlo, kanye nezinye izinqubo okungenani kanye ngonyaka.
- Uma wena noma othile emndenini wakho enalezi zimpawu, bheka udokotela ofanelekayo ngokushesha ukuze uthole iseluleko.
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