Ingabe unamaqhubu amancane akheka kwezinye izingxenye zomzimba wakho? Noma ingabe ulahlekelwa ukuzwa kancane futhi uzizwa unesizungu? Nakuba sicabanga ukuthi lezi yizinto ezivamile, ngezinye izikhathi ngemuva kwalezi zinto kungaba nesifo sofuzo esingakakuzwa okuningi. Namuhla sizokhuluma ngesifo esisodwa esinjalo. Lesi sifo yi-Neurofibromatosis Type 2, noma igama elifushane sonke esilaziyo yi -NF2 . Nakuba lokhu kuyinkimbinkimbi kancane, masikuqonde kalula.
Kalula nje, iyini i-NF2?
I-NF2 yisimo sofuzo esithinta isimiso sethu sezinzwa. Ngenxa yoshintsho ku-gene emzimbeni wethu, imizimba yethu ithola isignali engalungile yokukhiqiza amangqamuzana amaningi kakhulu. Lawa maseli angaphezulu aqoqana futhi akhe amathumba.
Ingxenye engcono kakhulu ukuthi iningi lala maqhubu alinabungozi/alinawo umdlavuza . Lokhu kusho ukuthi awasabalali kwezinye izingxenye zomzimba. Kodwa-ke, kuye ngokuthi la maqhubu akheka kuphi, singase sibe nezinkinga ezahlukahlukene.
Izindawo ezivame kakhulu lapho la maqhubu angakheka khona yilezi:
- Imizwa emzimbeni wethu wonke (imizwa engaphandle).
- Ulwelwesi oluphakathi kobuchopho nogebhezi (ama-meninges).
- Umgogodla.
- Izinzwa ezixhumanisa ubuchopho nendlebe yangaphakathi, ezisiza ngokuzwa nokulinganisela.
I-NF2 yisimo esingeseqembu lezifo ezibizwa ngokuthi 'i-neurofibromatosis.' Leli qembu lezifo lithinta kakhulu isikhumba sethu kanye nesistimu yezinzwa.
Sivame kangakanani lesi sifo?
Lesi akusona isifo esivame kakhulu. Ngokwezibalo, i-NF2 ithinta cishe ingane eyodwa kwezingu-33,000 ezizalwa emhlabeni wonke. Cishe u-3% wabo bonke 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. Kubantu abaningi, izimpawu zokuqala zibangelwa izimila ezisezinzwa ezilawula ukuzwa.
Izimpawu zokuqala ezivame ukuvela izinguquko ekuboneni noma ekuzweni. Uma uhlangabezana nanoma yini efana nale, qiniseka ukuthi ubona udokotela.
Ithebula elingezansi lingakusiza ukuthi uqonde lezi zimpawu ngokucacile.
| Uhlobo lwesibonakaliso | Incazelo |
|---|---|
| Izimpawu zokuqala zezimila zemizwa yokuzwa | |
| Izinkinga zokulinganisela | Ukuzizwa unesizungu, ukungakwazi ukulinganisela lapho uhamba. |
| Ubunzima bokuzwa | Ukulahlekelwa kancane kancane kokuzwa endlebeni eyodwa noma zombili. |
| Ukuzwa ukukhala ezindlebeni (i-Tinnitus) | Ukuzwa umsindo ozwakalayo njalo ngaphakathi ezindlebeni, noma ngabe awukho umsindo. |
| Izimpawu ezibangelwa izimila zeminye imizwa | |
| Ikhanda elibuhlungu | Ikhanda elibuhlungu elivame ukungaqedwa yizinhlungu ezivamile. |
| Ukuba ndikindiki noma ubuthakathaka bemisipha | Ukuba ndikindiki noma umuzwa wokuphelelwa yimpilo ezindaweni ezifana nezandla, izinyawo, noma ubuso. |
| Ukukhubazeka kobuso | Ukungakwazi ukulawula uhlangothi olulodwa lobuso kahle. |
| Izinguquko zesikhumba | Ukuvela kwamaqhubu noma ama-plaque ebusweni besikhumba. |
| Izinkinga zokubona | Umbono ofiphele, ama-cataract. |
| Ubuhlungu | Ukuzwa umuzwa oshisayo ezandleni nasezinyaweni. |
| Ukuquleka | Ukwenzeka kwezimo ezifana nokufaneleka. |
Izimpawu zivame ukuqala ukuvela phakathi kweminyaka yobuntwana kanye neminyaka engama-30. Kodwa-ke, lesi sifo singathinta abantu banoma yimuphi ubudala. Abantu abadala banamathuba amaningi okubhekana nezinkinga zokuzwa kuqala. Kodwa-ke, izingane zinamathuba amaningi okuthi zibe nezimila ebuchosheni noma emgogodleni. Ukuqala kwezimpawu ebuntwaneni kusho ukuthi lesi sifo singaba sibi kakhulu.
Yiziphi izinhlobo zamaqhubu akhula ku-NF2?
Kunezinhlobo eziningana eziyinhloko zamaqhubu angabonakala ku-NF2. Ake sibheke kafushane.
| Uhlobo Lwesimila | Indawo yemvelaphi kanye nemvelo |
|---|---|
| AmaSchwannoma | Lokhu kuvela kumaseli abizwa ngokuthi amaseli e-Schwann. Avame ukutholakala emthanjeni wokuzwa, oxhumanisa ubuchopho nendlebe (obizwa nangokuthi ama-schwannoma e-vestibular ). Angakhula futhi emithanjeni esiza ngezinto ezifana nokunyakaza kwamehlo, ukunyakaza kolimi, kanye nokugwinya. |
| Ama-Meningioma | Lezi uhlobo lwesimila esakheka ebuchosheni. Ngokukhethekile, sakha emaqakaleni (ama-meninges) phakathi kobuchopho nogebhezi. |
| Ama-glioma | Lolu futhi uhlobo lwesimila esakheka ebuchosheni. Lawa akhiwa ngamaseli abizwa ngokuthi ama-glial cells. Avame ukubonakala eduze kwemizwa ye-optic. |
| Ama-Ependymoma | Lolu futhi uhlobo lwe-glioma. Lukhula ebuchosheni nasemgogodleni. Luvela emaseli akhiqiza uketshezi ngaphakathi kobuchopho (uketshezi lomgogodla - i-CSF). |
Kungani i-NF2 ikhula? Iyini imbangela?
Isizathu esiyinhloko salokhu ushintsho lwezakhi zofuzo ku-gene `NF2` emzimbeni wethu. Le gene isiza ekwakheni iphrotheni ebizwa ngokuthi `merlin`. Umsebenzi oyinhloko wale phrotheni ukuvimba ukwakheka kwezimila (i-tumor-suppressor).
Ngakho-ke, uma kukhona ushintsho ku-gene ye-`NF2`, iphrotheni ye-`merlin` ayikhiqizwa kahle. Bese amanye amaseli emzimbeni wethu aqala ukuhlukana nokwanda ngokungalawuleki. Yile ndlela amaseli angaphezulu aqoqana ngayo futhi akhe amathumba.
Singathola lokhu kuhlukahluka kwezakhi zofuzo ngezindlela ezimbili:
1. Ufuzo: Uma omunye wabazali enalolu shintsho lwezakhi zofuzo, kunethuba elingama-50% lokuthi ingane izoluthola njengefa (iphethini ethi `autosomal dominant`).
2. Ngokungahleliwe: Ngezinye izikhathi, noma ngabe akekho emndenini onalesi sifo, ukuguquka okusha kwezakhi zofuzo kungenzeka ngokungahleliwe ngesikhathi sokukhulelwa. Lena yindlela iziguli eziningi ze-NF2 ezihlakulela ngayo lesi sifo.
Ubani osengozini? Yiziphi izinkinga ezingaba khona?
Uma othile emndenini wakho, ikakhulukazi abazali bakho, ene-NF2, nawe usengozini yokuthola lesi sifo.
Kunezinkinga eziningana ezingase zenzeke ngenxa ye-NF2.
- Ukulahlekelwa ukuzwa ngokuphelele.
- Ukulahlekelwa umbono ngokuphelele.
- Ukulimala kwemizwa.
- Ukwakheka koketshezi ebuchosheni.
Akuvamile kakhulu, amanye amaqhubu e-NF2 angaba umdlavuza, ngakho-ke ukuhlolwa njalo kwezokwelapha kubaluleke kakhulu.
Ungasithola kanjani lesi sifo?
Udokotela uzokuxilonga futhi akwenzele izivivinyo ezahlukene ukuqinisekisa ukuthi unalesi sifo noma cha. Okokuqala, bazokwenza ukuhlolwa ngokomzimba. Bazobheka izinto ezifana nezinguquko esikhumbeni sakho kanye nokulinganisela komzimba wakho. Bese bebuza ngezimpawu zakho kanye nomlando wezokwelapha womndeni.
Ngaphezu kwalokho, kungenziwa izivivinyo ezilandelayo:
- I-MRI scan: Lokhu kungabona ngokucacile ukuthi kukhona yini izimila ohlelweni lwakho lwezinzwa kanye nesikhumba.
- Ukuhlolwa kokuzwa: Hlola izinga lakho lokuzwa.
- Ukuhlolwa kwamehlo: Hlola ama-cataract noma ezinye izinkinga zamehlo.
- Ukuhlolwa kwezakhi zofuzo: Hlola ukuguquka kwezakhi zofuzo ze-`NF2`.
Yiziphi izindlela zokwelapha i-NF2?
Eqinisweni, akukho ukwelashwa kwe-NF2 okwamanje. Kodwa-ke, ukuxilongwa nokwelashwa kwalesi sifo kuthuthuke kakhulu. Lokhu kwelashwa kusiza ukulawula izimpawu futhi kukusize uphile impilo evamile ngangokunokwenzeka. Ukwelashwa kuyahlukahluka kuye ngomuntu nomuntu. Udokotela wakho uzonquma ukuthi yikuphi ukwelashwa okukulungele.
| Indlela yokwelapha | Kwenziwani |
|---|---|
| Ukuhlinzwa | Kuhlinzwa ukuze kususwe amaqhubu noma ama-cataract. |
| Ukwelashwa ngamakhemikhali noma ukwelashwa ngemisebe | Lezi zindlela zokwelapha zisetshenziselwa ukunciphisa usayizi wezimila. Isibonelo, ukwelashwa ngemisebe ye-stereotactic kuyindlela yokwelapha ngemisebe. |
| Izinsiza zokuzwa | Amadivayisi anjengezinsiza zokuzwa, izimila ze-cochlear, kanye nezimila ze-brainstem zokuzwa zisetshenziselwa ukulondoloza nokuthuthukisa ukuzwa. |
| Izinsiza zokubona | Amadivayisi anjengezibuko anikezwa labo abanenkinga yokubona. |
| Izinsiza zokuhamba | Uma kwenzeka ubunzima bokuhamba ngenxa yokulimala kwemizwa, kunikezwa amadivayisi okunyakaza. |
| Imithi | Kunikezwa imithi ehlukahlukene ukulawula izimpawu ezifana nobuhlungu. |
Ngezinye izikhathi, uma amaqhubu akho engakubangeli ukungakhululeki okukhulu, udokotela wakho angase anqume ukuwaqapha ngaphandle kokuwelapha. Kodwa-ke, kubalulekile ukuhlolwa ngokomzimba, ukuhlolwa kwezikrini, kanye nokuhlolwa kokuzwa nokubona okungenani kanye ngonyaka ukuze kuqashwe inqubekela phambili yesifo.
Ithimba lezokwelapha elilapha lokhu
Ngenxa yokuthi i-NF2 iyisifo esithinta izinhlelo eziningi zomzimba, yelashwa yithimba lochwepheshe. Leli qembu livame ukufaka:
- Odokotela be-Neuro-oncologists: Odokotela abangochwepheshe be-cancer kanye nezimila zesimiso sezinzwa.
- Odokotela Abahlinzayo Bezinzwa: Odokotela abahlinzayo abangochwepheshe ohlelweni lwezinzwa.
- Odokotela be-ENT: Odokotela abahlinzayo bezindlebe, impumulo nomphimbo.
- Odokotela bezindlebe: Ochwepheshe bokuzwa.
- Abeluleki bezakhi zofuzo: Ochwepheshe abeluleka ngezifo zezakhi zofuzo.
Ingabe ikhona imiphumela emibi yokwelashwa?
Yebo, njenganoma yikuphi ukwelashwa, lokhu kwelashwa kungaba nemiphumela emibi. Kuyahlukahluka kuye ngohlobo lokwelashwa.
Kunezingozi ezithile ezihilelekile ekuhlinzweni ukuze kususwe izimila. Ngenxa yokuthi lezi zimila zitholakala ezindaweni ezibucayi kakhulu njengobuchopho nomgogodla, kunezingozi ezifana nokopha, ukutheleleka, kanye nokulimala kwemizwa. Kodwa ithimba lakho lokuhlinzwa lizokwenza konke okusemandleni alo ukunciphisa lezi zingozi.
Ekwelashweni ngamakhemikhali kanye nemisebe,
- Ukuqunjelwa
- Uhudo
- Ukukhathala
- Ukulahlekelwa izinwele
- Isifiso sokudla
- Isicanucanu nokuhlanza
Imiphumela emibi efana nalokhu: Ngaphambi kokuqala ukwelashwa, khuluma nodokotela wakho ngemiphumela emibi engaba khona.
Ungathini ngokuphila isikhathi eside nalesi sifo?
Indlela i-NF2 ethinta ngayo impilo yomuntu incike ezintweni eziningi. Ubukhulu bezilonda, indawo yazo, kanye nobudala lapho lesi sifo sitholakala khona okokuqala kuphakathi kwezinto ezibaluleke kakhulu. Ngezinye izikhathi izilonda zingase zingabangeli zimpawu. Ngezinye izikhathi, izimpawu zingaba zimbi kakhulu.
Into engcono kakhulu ukuxilonga lesi sifo kusenesikhathi bese uqala ukwelashwa ngaphambi kokuba kuvele izinkinga . Khona-ke umbono uba ngcono kakhulu. Kuye ngokuthi izimpawu zakho zikuthinta kanjani, udokotela wakho uzokwazi ukukunikeza isibikezelo esinembile kakhudlwana.
Ingabe i-NF2 ingavinjelwa?
Cha. Njengoba i-NF2 iyisimo sofuzo, ayinakuvinjelwa. Kodwa-ke, uma kukhona umlando womndeni walesi simo futhi uhlela ukuqala umndeni, ukwelulekwa ngofuzo kuyanconywa ngaphambi kokuba nomntwana.Kubaluleke kakhulu ukubhekisela kulokhu okulandelayo: Ukuze ukwazi ukuqonda kangcono ingozi yokuba ingane yakho ithole lesi sifo.
Umlayezo Wokuya Nawe Ekhaya
- I-NF2 yisimo sofuzo esibangela izimila ohlelweni lwezinzwa. Iningi lalezi zimila alinawo umdlavuza.
- Izimpawu ezinjengokulahlekelwa ukuzwa, izinkinga zokulinganisela, izinguquko zokubona, ukuqubuka kwesikhumba, kanye nekhanda elibuhlungu zivame kakhulu.
- Nakuba lesi sifo singelapheki ngokuphelele, kunezindlela eziningi zokwelapha ezisebenzayo ezingalawula izimpawu futhi zithuthukise ikhwalithi yokuphila.
- Kubaluleke kakhulu ukuxilonga lesi sifo kusenesikhathi futhi uhlolwe njalo ngaphansi kwethimba lodokotela abangochwepheshe.
- Uma umndeni wakho unomlando walezi zifo, cabanga ngokufuna ukwelulekwa ngofuzo ngaphambi kokuba nezingane.
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