Ukuthi yini i-Schwannomatosis? Izimpawu, Izimbangela, Nokwelapha

I-Schwannomatosis yisimo esingavamile sezofuzo esibangela ukukhula kwezinhlobo eziningi zezimpukane ezilungile ebizwa ngokuthi yi-schwannomas ezinzwa zakho. Lezi zimpukane zikhula ekuvikelweni kwezinzwa, zidala ukukhula okungabangela ubuhlungu nezinye izimpawu emzimbeni wakho.

Nakuba igama elithi "impukane" lingase lizwakale liyesabekayo, i-schwannomas ayilona icala futhi ayisabalali kwamanye amalunga omzimba wakho. Cabanga ngazo njengokukhula okungafuneki okubekela uxinzelelo ezinzwini zakho, kufana nendlela isicathulo esiqinile esingacindezela unyawo lwakho. Lesi simo sihlukanisa abantu abangaphansi kuka-1 ku-40,000, okwenza kube yinto engavamile kodwa iyinyani kubo bonke abayifumanayo.

Ziyini izimpawu ze-schwannomatosis?

Isimpawu esiyinhloko se-schwannomatosis yubuhlungu obuhlala njalo obunokuba bukhulu noma obukhulu, obukhulu. Lobu buhlungu buhlale buhluke ezinhlungwini ezivamile ngoba buvela ezimpukane ecindezela izindlela zezinzwa zakho.

Nawa izimpawu ezivamile ongazihlangabezana nazo:

• Ubuhlungu obuhlala njalo obunokuba buqhuma, buhlungu, noma obukhulu.
• Ukuqina noma ubuthakathaka ezindaweni ezihlazwe.
• Ubuthakathaka bemisipha, ikakhulukazi ezandleni nasezinyaweni.
• Amaqhubu abonakalayo noma athintwayo ngaphansi kwesikhumba.
• Ubuhlungu obukhulu ngokunyakaza noma ukuthinta.
• Izinhlungu zikhanda uma izimpukane zihlukanisa izinzwa ze-cranial.

Ngokungavamile, abanye abantu bahlangabezana nezinkinga zokuzwa uma izimpukane zikhula eduze kwezinzwa zokuzwa. Izindlela zokubuhlungu zingalibali, ngezinye izikhathi zivele ngokuzumayo noma zibe zimbi kancane kancane ngokuhamba kwesikhathi. Okwenza lesi simo sibe inselele ngokukhethekile ukuthi ubuhlungu bungase bungafani namaqhubu abonakalayo, njengoba ezinye izimpukane zikhula ngokujulile emzimbeni wakho.

Ziyini izinhlobo ze-schwannomatosis?

Odokotela bazi izinhlobo ezimbili eziyinhloko ze-schwannomatosis ngokusekelwe ezahlukweni zazo zezofuzo. Ukuqonda ukuthi yiluphi uhlobo olukhona kuwe kusiza ekuqondiseni izinqumo zokwelapha nokucatshangelwa komndeni.

Uhlobo lokuqala luhilela ukuguqulwa kwe-SMARCB1 gene, okuyilapho cishe u-85% wazo zonke izimo. Leli fomu ngokuvamile libangela izimpukane emzimbeni wonke futhi ngokuvamile liphumela ezimpawu eziningi.

Uhlobo lwesibili luhilela ukuguqulwa kwe-LZTR1 gene futhi luthambekele ekubeni nezimpukane ezimbalwa, nakuba izimpawu zingase zibe zikhulu.

Kukhona futhi uhlobo olungavamile oluthi yi-mosaic schwannomatosis, lapho ukuguqulwa kwezofuzo kwenzeka ekuqaleni kokukhula kodwa kungathinti yonke iseli emzimbeni wakho. Lo mkhuba ngokuvamile ubangela izimpukane ezindaweni ezithile kunokuba kuwo wonke umzimba wakho.

Yini ebangela i-schwannomatosis?

I-Schwannomatosis ivela ekuhlukaniseni kwezofuzo okuhlupha indlela amaseli akho aqondisa ngayo ukukhula kwempukane. Lezi zinguquko zithinta ama-gene avame ukusebenza njenge-"ibhuleki" ukuvimbela ukukhula kweselula okungafuneki ezinzwini zakho.

Izimo eziningi zenzeka ngenxa yokuguqulwa kwezofuzo okungahleliwe, okusho ukuthi kwenzeka ngokungahleliwe ngaphandle kokudluliselwa kubazali. Cishe u-15-20% wezimo zidluliselwa kubazali abaphethe ukuguqulwa kwezofuzo. Uma kudluliselwa, kunethuba lika-50% lokudlulisela lesi simo kumntwana ngamunye.

Ukuguqulwa kugxilisa ngokukhethekile ama-gene okuvimbela izimpukane, avame ukugcina amaseli angakhula ngaphandle kokulawula. Uma la ma-gene engasebenzi kahle, amaseli e-schwann (amaseli abopha izinzwa) angakhula kakhulu, enza izimpukane ezibonakalayo. Izici zemvelo azibonakali zidlala indima ebalulekile ekuthuthukiseni lesi simo.

Nini okufanele ubona udokotela nge-schwannomatosis?

Kufanele ufuna ukunakekelwa kwezokwelapha uma uhlangabezana nobuhlungu obuhlala njalo, obungachazeki obuphenduli ezinye izindlela zokwelapha ubuhlungu. Lokhu kubaluleke kakhulu uma ubuhlungu buzwakala bungavamile noma buvela kanye nezinye izimpawu zezinzwa.

Xhumana nodokotela wakho ngokushesha uma uqaphela amaqhubu amaningi ngaphansi kwesikhumba sakho, ikakhulukazi uma ebuhlungu noma ekhula. Noma iyiphi inhlanganisela yokuhlupheka okuhlala njalo, ukuqina, ubuthakathaka bemisipha, noma ukukhula okubonakalayo kudinga ukuhlolwa ngumuntu ochwepheshe. Ungalindi uma uhlangabezana nobuhlungu obukhulu obuphazamisa imisebenzi yakho yansuku zonke noma ukulala.

Uma unomlando womndeni we-schwannomatosis noma izimo ezihlobene njenge-neurofibromatosis, xoxa ngokwelulekwa kwezofuzo nodokotela wakho ngisho nangaphambi kokuba izimpawu zivele. Ukutholakala kwangaphambi kwesikhathi nokubhekwa kungasiza ekulawuleni izimpawu ngokuphumelelayo nokunciphisa izinkinga.

Ziyini izici ezingozi ze-schwannomatosis?

I-risk factor eyinhloko ye-schwannomatosis ukuba nomlando womndeni wesimo. Uma omunye umzali eneswannomatosis, umntwana ngamunye unethuba lika-50% lokudluliselwa ukuguqulwa kwezofuzo, nakuba akuwona wonke umuntu ozuza ukuguqulwa okuzoba nezimpawu.

Ubudala bungathinta ukuthi izimpawu zivele nini, ngabantu abaningi abathuthukisa izimpawu phakathi kweminyaka engu-25 no-30. Noma kunjalo, izimpawu zingavele kunoma yiliphi iminyaka, kusukela ebuntwaneni kuya ebudaleni obukhulu. Ngokungafani nezinye izimo zezofuzo, i-schwannomatosis ihlukanisa amadoda nabesifazane ngokulinganayo.

Ngokuthakazelisayo, ngisho nabantu abahlukanisa ukuguqulwa kwezofuzo abawenzi njalo lesi simo. Lesi simo, esibizwa ngokuthi yi-incomplete penetrance, sisho ukuthi ukuba ne-gene akuqinisekisi ukuthi uzoba nezimpawu. Ososayensi bacabanga ukuthi cishe u-90% wabantu abaphethe ukuguqulwa bazokuthuthukisa izimpawu, kodwa ubukhulu nokulingana kungase kuhluke kakhulu.

Ziyini izinkinga ezingenzeka ze-schwannomatosis?

Inkinga ebaluleke kakhulu ye-schwannomatosis yubuhlungu obuhlala njalo obunokuthinta kakhulu ikhwalithi yakho yokuphila. Lobu buhlungu buhlale bube nzima ukulawula ngezindlela zokwelapha ezivamile futhi kungadingeka izindlela ezikhethekile zokulawula ubuhlungu.

Nawa izinkinga ezingathuthuka ngokuhamba kwesikhathi:

• Ubuhlungu obukhulu obuhlala njalo obuphazamisa imisebenzi yansuku zonke.
• Ubuthakathaka bemisipha obuqhubekayo noma ukuqina ezindaweni ezihlazwe.
• Ukonakala kwezinzwa okungapheli ngenxa yokucindezela kwempukane.
• Ukulahlekelwa kokuzwa uma izimpukane zihlukanisa izinzwa zokuzwa.
• Ukucindezelwa komgogodla ezimweni ezingavamile.
• Ukudideka nokukhathazeka okuhlobene nobuhlungu obuhlala njalo.
• Ukungalali kahle ngenxa yokungakhululeki okuhlala njalo.

Nakuba i-schwannomas eningi ihlala ilungile, kunethuba elincane (ngaphansi kuka-5%) lokuthi ingaba yimbi. Lokhu kuguqulwa kuyinto engavamile kodwa kudinga ukubhekwa ngokuhlola okuvamile kwezokwelapha. Ithonya lengqondo lokuphila nobuhlungu obuhlala njalo nokungaqiniseki nakho kungaba khulu, ngokuvamile kudinga ukusekelwa ochwepheshe bezempilo yengqondo.

I-schwannomatosis ihlonishwa kanjani?

Ukuhlonishwa kwe-schwannomatosis ngokuvamile kuqala ngodokotela wakho othatha umlando wezokwelapha oqondile futhi enze ukuhlolwa komzimba okuqondile. Bazokuphuthuma ngezindlela zakho zokubuhlungu, umlando womndeni, futhi bahlole noma yimaphi amaqhubu abonakalayo noma izindawo ezinkulu.

Izifundo zokuthola izithombe zidlala indima ebalulekile ekuhlonishweni. Ama-MRI scans angaveza i-schwannomas kuwo wonke umzimba wakho, ngisho nalabo abancinci kakhulu ukuthi bazizwe. Udokotela wakho angase ayalele ama-MRI scans amaningi ezindawo ezahlukene zomzimba ukuze uthole isithombe esiphelele. Ama-CT scans angase asebenziselwe ukuhlola izindawo ezithile ngokuningiliziwe.

Ukuhlolwa kwezofuzo kungaqinisekisa ukuhlonishwa ngokuthola ukuguqulwa kwe-SMARCB1 noma i-LZTR1 ama-gene. Lokhu kuhlolwa kuhilela isampula legazi elula futhi kungasiza ekuqondeni ukuthi lesi simo singase sidluliselwe kubantwana bakho. Ngezinye izikhathi, odokotela bangase bancome ukukhipha isampula yempukane ukuze baqinisekise ukuthi yi-schwannoma futhi bakhiphe ezinye izimo.

Iyini impilo ye-schwannomatosis?

Ukuphila kwe-schwannomatosis kugxila ikakhulu ekulawuleni ubuhlungu nezimpawu, njengoba akukho ukwelapha okukhona kwesimo sezofuzo esiyinhloko. Iqembu lakho lezokwelapha lizothuthukisa nawe uhlelo lokwelapha oluqondene nezidingo zakho nezidingo zakho.

Ukulawula ubuhlungu ngokuvamile kudinga indlela eminingi ehlanganisa izindlela ezahlukene. Imithi ingase ihlanganise imithi yokulwa nokuhlwitha njenge-gabapentin, imithi yokucindezela engasiza ngebuhlungu bezinzwa, futhi ngezinye izikhathi imithi ebuhlungu kakhulu ngezikhathi ezinkulu. Ukwelashwa komzimba kungasiza ekuqinisweni kokunyakaza namandla ngenkathi kunciphisa ubuhlungu.

Ukuhlinzwa kungase kubhekwe ezimpukane ezibangela izimpawu ezinkulu noma ecindezela izakhiwo ezibalulekile. Noma kunjalo, ukuhlinzwa kunesingozi futhi akuyona njalo okuyimfuneko njengoba i-schwannomas ilula. Udokotela wakho uzoqala ukulinganisa izinzuzo ezingaba khona ngokumelene nezingozi njengokulimaza izinzwa. Abanye abantu bathola impumuzo ngezindlela ezihlukile njengokuhlinzwa kwe-acupuncture, ukwelashwa komzimba, noma ukuzindla ukuze bawelaphe ubuhlungu.

Ungayilawula kanjani i-schwannomatosis ekhaya?

Ukulawula i-schwannomatosis ekhaya kuhilela ukuthuthukisa izindlela zokubhekana nobuhlungu obuhlala njalo ngenkathi ugcina ikhwalithi yakho yokuphila. Ukuqalisa imikhuba yansuku zonke evamile kungakusiza ekulawuleni izimpawu nokunciphisa ukucindezeleka emzimbeni wakho.

Ukusetshenziswa kokushisa nokubanda kungakusiza ekulawuleni ubuhlungu. Zama ukugcoba amanzi afudumele, ama-heating pads, noma ama-ice packs ukuze ubone ukuthi yini esebenza kangcono ezindleleni zakho zokubuhlungu. Ukuzivocavoca okulula njokubhukuda, ukuhamba, noma i-yoga kungasiza ekuqinisweni kokuguquguquka namandla ngaphandle kokubeka ukucindezela okukhulu ezinzwini zakho.

Izindlela zokulawula ukucindezeleka kubaluleke kakhulu ngoba ukucindezeleka kungenza ubuhlungu bube bubi. Cabanga ngezindlela njengokuqeqeshwa kokuphefumula okujulile, ukuzindla, noma ukuphumula kwemisipha okuqhubekayo. Ukugcina idayari yokuhlupheka kungakusiza ekutholeni izinto ezibangela ubuhlungu nokubona ukuthi yiziphi izindlela zokwelapha ezisebenza kangcono kuwe.

Kufanele ulungiselele kanjani i-aphoyintimenti yakho yodokotela?

Ngaphambi kokuqokwa kwakho, yenza uhlu oluqondile lwezimpawu zakho, kufaka phakathi ukuthi zaqala nini, yini eyenza zibe ngcono noma zimbi, nokuthi zithinta kanjani impilo yakho yansuku zonke. Chaza ngokucacile uhlobo, indawo, nobukhulu banoma yiluphi ubuhlungu obuhlangabezana nalo.

Butha umlando wakho ophelele wezokwelapha, kufaka phakathi noma yiziphi izifundo zokuthola izithombe zangaphambili, imiphumela yokuhlola, nokwelashwa okuye kwazama. Uma unomlando womndeni we-schwannomatosis noma izimo ezihlobene, butha le mininingwane futhi. Letha uhlu lwayo yonke imithi nezinye izinto ozithatha.

Lungiselela imibuzo mayelana nesimo sakho, izinketho zokwelapha, nokuthi yini okulindelekile kuqhubeke. Cabanga ukuletha umngani othembekile noma ilungu lomndeni ukuze likusize ukukhumbula imininingwane ebalulekile exoxwe ngayo ngesikhathi sokuqokwa. Ungangabazi ukubuza udokotela wakho ukuthi achaze noma yini ongayiqondi ngezindlela ezilula.

Iyini into ebalulekile mayelana ne-schwannomatosis?

I-Schwannomatosis yisimo esilawuleka, nakuba sihlala njalo futhi singathinta kakhulu impilo yakho. Nakuba kungekho ukwelapha, abantu abaningi bathola izindlela ezisebenza kahle zokulawula izimpawu zabo nokugcina ikhwalithi yokuphila enhle ngokunakekelwa kwezokwelapha nokusekelwa okuqondile.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi awuwedwa kule ndlela. Ukusebenzisana eduze neqembu lezokwelapha eliqonda isimo sakho kungenza umehluko omkhulu ekulawuleni izimpawu. Ngokuhlanganiswa okulungile kokwelashwa, ukulungiswa kwesitayela sokuphila, nokusekelwa, abantu abaningi abaneswannomatosis baphila impilo ezele, esebenzayo.

Hlala unethemba futhi ube nomdlandla mayelana nokunakekelwa kwakho. Ucwaningo mayelana nokwelashwa okungcono luyaqhubeka, futhi izindlela ezintsha zokulawula ubuhlungu zihlale zithuthukiswa. Gxila kulokho ongakulawula, futhi ungangabazi ukufuna ukusekelwa uma ulikhona.

Imibuzo evamile ebuzwa mayelana ne-schwannomatosis

Ingabe i-schwannomatosis ifana ne-neurofibromatosis?

Cha, i-schwannomatosis iyisimo esihlukile kwi-neurofibromatosis, nakuba zombili ziyizifo zezofuzo ezithinta uhlelo lwezinzwa. I-Schwannomatosis ngokuvamile ibangela ubuhlungu obuningi nezibonakaliso ezimbalwa uma kuqhathaniswa ne-neurofibromatosis. Ukuguqulwa kwezofuzo nezindlela zokudluliselwa nakho kuhlukile phakathi kwalezi zimo.

Ingabe i-schwannomatosis ingavikeleka?

Njengoba i-schwannomatosis iyisimo sezofuzo, ayikwazi ukuvikelwa ngendlela evamile. Noma kunjalo, uma unomlando womndeni wesimo, ukwelulekwa kwezofuzo kungakusiza ekuqondeni izingozi zakho nokwenza izinqumo eziqondile mayelana nokucatshangelwa komndeni. Ukutholakala kwangaphambi kwesikhathi nokubhekwa kungasiza ekulawuleni izimpawu ngokuphumelelayo.

Ingabe izimpawu zami ze-schwannomatosis zizoba zimbi ngokuhamba kwesikhathi?

Ukuqhubeka kwe-schwannomatosis kuyahluka kakhulu kumuntu ngamunye. Abanye abantu bahlangabezana nokuwohloka kancane kancane kwezimpawu, kanti abanye bahlala beqondile iminyaka eminingi. Ukubhekwa okuvamile neqembu lakho lezokwelapha kungasiza ekuqondeni noma yiziphi izinguquko nokwenza izinguquko zokwelapha ngokufanele. Abantu abaningi balawula izimpawu zabo impilo yabo yonke.

Ngingaba nabantwana uma ngineswannomatosis?

Yebo, ukuba ne-schwannomatosis akukuvimbeli ekutheni ube nabantwana, kodwa kunethuba lika-50% lokudlulisela ukuguqulwa kwezofuzo kumntwana ngamunye. Ukwelulekwa kwezofuzo kungakusiza ekuqondeni izingozi nokucwaninga izinketho njengokuhlolwa kwangaphambi kokuzalwa. Abantu abaningi abaneswannomatosis banemindeni enempilo nabantwana.

Ingabe kukhona izinguquko zokudla ezingasiza ezimpawu ze-schwannomatosis?

Nakuba kungekho ukudla okuqondile okuqinisekisiwe ukwelapha i-schwannomatosis, ukugcina ukudla okuhle okujwayelekile kungasekele impilo yakho jikelele futhi kungasiza ekulawuleni ubuhlungu. Abanye abantu bathola ukuthi ukudla okulwa nokuvuvukala kungasiza ekuqedeni ukuvuvukala emzimbeni. Hlala uxoxa ngezinguquko zokudla nodokotela wakho ukuze uqinisekise ukuthi ngeke zihluphe imithi yakho.