Ingabe unezigaxa noma amaqhubu angaziwa emzimbeni wakho? Kungaba yiSchwannomatosis!

Ingabe ngezinye izikhathi uzizwa ubuhlungu obungapheli, obungachazeki emzimbeni wakho? Noma ngezinye izikhathi uzizwa amaqhubu amancane ngaphansi kwesikhumba sakho? Nakuba singazinaki kakhulu lezi zinto, ngezinye izikhathi zingaba izimpawu zesimo sezokwelapha. Namuhla, sizokhuluma ngesimo sezokwelapha esingavamile ukuzwakala ngaso, kodwa okubalulekile ukusazi. Leso yisimo esibizwa ngokuthi 'iSchwannomatosis'.

Kuyini i-'Schwannomatosis'? Masiyiqonde kalula!

Kalula nje, i-Schwannomatosis yisimo esibangelwa izinguquko ezithile ezakhiweni zethu zofuzo. Yilapho kuvela khona izimila (amathumba) ohlelweni lwezinzwa lomzimba wethu, okungukuthi, ezinzwaneni. Sibiza lezi zimila ngokuthi 'schwannomas'. Lawa 'schwannomas' akhula ohlotsheni olukhethekile lweseli oluzungeze izinzwa zethu futhi lusebenza njengesivikelo. Lawa maseli abizwa ngokuthi 'amaseli eSchwann'. Atholakala kakhulu ohlelweni lwethu lwezinzwa oluseceleni - okungukuthi, ezinzwaneni ezisuka ebuchosheni nasentanjeni yomgogodla, ezimpandeni zemizwa, nalapho izinzwa zixhuma khona nemisipha.

I-Schwannomatosis yisimo esivame ukuveza ubuhlungu obungapheli kubantu abadala abasebasha, abaneminyaka ephakathi kuka-20 no-40. Lulunye uhlobo lwe-neurofibromatosis, iqembu lamathumba akha ohlelweni lwezinzwa.

Ingabe zikhona izinhlobo zeSchwannomatosis?

Yebo, kunezinhlobo eziningana eziyinhloko zeSchwannomatosis. Lezi zihlukaniswa ngokwezakhi zofuzo ezibangela uhlobo ngalunye. Lezi zinhlobo yilezi:

• `NF2` - `schwannomatosis` ehlobene (eyayibizwa ngokuthi `i-neurofibromatosis uhlobo 2`).
• `SMARCB1` - okuhlobene ne-`schwannomatosis`.
• `LZTR1` - okuhlobene ne-`schwannomatosis`.
• `22q` - i-`schwannomatosis` ehlobene (lokhu kubangelwa ushintsho engxenyeni ye-chromosome 22).
• I-Schwannomatosis ayichazwanga ngenye indlela (NOS).
• I-Schwannomatosis engekho kwenye indawo ehlukaniswe (i-NEC).

Nakuba la magama engase abonakale eyinkimbinkimbi kancane, ukuwahlukanisa ngale ndlela kuwusizo olukhulu kodokotela ekuxilongeni lesi sifo ngokunembile nasekunikezeni iseluleko esifanele.

Kungavamile kangakanani lesi simo esibizwa ngokuthi 'iSchwannomatosis'?

I-Schwannomatosis uhlobo olungavamile kakhulu lwe-neurofibromatosis. Izilinganiso eziqondile zokuthi bangaki abantu abanayo ziyahlukahluka. Ezinye izifundo ziphakamisa ukuthi i-schwannomatosis ehlobene ne-NF2 ingathinta cishe umuntu oyedwa kwabangu-30,000 . Uma ezinye izinhlobo zihlanganiswa, ithinta cishe umuntu oyedwa kwabangu-70,000 .

Akuwona wonke umuntu othola i-schwannoma one-schwannomatosis. Ku-schwannomatosis, kwakheka i-schwannomas eminingi. Ngokuvamile, i-schwannoma eyodwa ivame kakhulu kune-schwannomatosis eminingi. Lokhu kusho ukuthi akwenzeki ngempela kubantu abaningi.

Ziyini izimpawu zeSchwannomatosis?

Uphawu oluyinhloko noluvame kakhulu olubonakala kulesi simo ubuhlungu . Lobuhlungu buvela ngoba izimila ze-schwannoma zicindezela imizwa nezicubu ezizungezile. Bungaba njani lobu buhlungu?

• Kungaba ubuhlungu obungapheli , okusho ukuthi bungahlala izinyanga, ngisho neminyaka.
• Uhlobo lobuhlungu lungahluka kusukela kobuncane kuya kobukhulu .
• Lobuhlungu bungazwakala noma kuphi emzimbeni , hhayi nje lapho kukhona isimila. Ngezinye izikhathi, ubuhlungu bungenzeka endaweni engahlobene nhlobo nendawo lapho isimila sikhona.
• Ubuhlungu bungakhula ngokuhamba kwesikhathi.

Cabanga nje, ubuhlungu obungapheli obuhamba emlenzeni wakho, buhambisana nokungazweli. Abupheli ngisho nangemva kokuthatha umuthi. Ungase ucabange ukuthi umkhuhlane nje. Kodwa kungaba ubuhlungu obubangelwa yiSchwannomatosis.

Ngaphezu kobuhlungu, ezinye izimpawu zingase zivele kuye ngokuthi isimila sikuphi. Isibonelo:

• Umuzwa wokuthuthumela noma umuzwa wokushaqeka ngogesi .
• Ubuthakathaka bemisipha noma ukungasebenzi kahle kwemisipha.
• Amaqhubu noma ukuvuvukala ngaphansi kwesikhumba (lapho izimila zakheke khona) kungazwakala esandleni.

Nakuba lezi zimpawu zivame ukuqala ngemva kweminyaka engu-20 nangaphambi kweminyaka engu-40 , izifundo zibonisa ukuthi zingavela kunoma yimuphi ubudala.

Yini ebangela i-Schwannomatosis?

Imbangela eyinhloko yeSchwannomatosis ukuhlukahluka kwezakhi zofuzo (ukuguqulwa kwezakhi zofuzo). Lokhu kuyiqiniso ikakhulukazi kuma-gene abizwa ngokuthi i-NF2, i-SMARCB1, noma i-LZTR1. Lawa ma-gene atholakala ku -chromosome 22 .

Lezi zakhi zofuzo zisebenza 'njengabacindezeli be-tumor', abalawula ukwakheka kwezimila emizimbeni yethu. Okusho ukuthi, lezi zakhi zofuzo zilawula ukuthi amaseli kufanele akhule futhi ahlukane kangaki. Ngakho-ke, uma kukhona 'ukuguqulwa' ku-gene 'yokucindezela i-tumor' njengale, amaseli ethu awatholi imiyalelo ayidingayo ukulawula ukukhula kwamaseli. Ngenxa yalokho, amaseli aqala ukukhula futhi ahlukane ngokushesha kakhulu, ngaphandle kokulawula. Yileyo ndlela lawa 'ma-tumor' akheka ngayo.

Kwezinye izimo ze-Schwannomatosis, imbangela eqondile ingase ingaziwa. Lokhu kusho ukuthi lesi simo singavela ngisho nangaphandle kokuguqulwa kwezakhi zofuzo okutholakale njengamanje.

Ingabe lokhu kuyifa? ('Ingabe i-schwannomatosis iyifa?')

Ezinye izimo ze-'Schwannomatosis'Kungazuzwa njengefa . Uma sikhuluma nje, phakathi kuka-15% no-25% wabantu abane-Schwannomatosis banomlando womndeni walesi simo. Sidluliselwa ngendlela elawulwa yi-autosomal. Kalula nje, uma noma yimuphi umzali ezuza ikhophi yesakhi sofuzo esithwala ushintsho lwezakhi zofuzo, ingane cishe izoqala ukuba nalesi simo.

Kodwa-ke, amacala amaningi e-Schwannomatosis ayenzeka ngokungahleliwe . Lokhu kusho ukuthi othile angahlakulela i-Schwannomatosis ngokuthuthukisa lolu guquko lwezakhi zofuzo, noma ngabe akekho emndenini oke waba nalesi simo ngaphambili.

Yiziphi izinkinga ezingaba khona zeSchwannomatosis?

Iningi lamathumba e-schwannoma awawona abangela umdlavuza, awayona ingozi (amathumba angewona abangela umdlavuza). Lokho kusho ukuthi awawona umdlavuza. Kodwa-ke, akuvamile kakhulu, amanye amathumba angaba umdlavuza. Yingakho odokotela benaka nalokhu.

Enye inkinga enkulu ubuhlungu obungapheli . Lobuhlungu obuqhubekayo bungaba nomthelela omkhulu empilweni yengqondo yomuntu. Uma kuba nzima ukwenza imisebenzi yansuku zonke futhi uma bengakwazi ukuba bona, kungavela izimo ezinjengokucindezeleka nokukhathazeka . Ngakho-ke, abantu abaningi bakuthola kuwusizo ukukhuluma nomeluleki wezempilo yengqondo ezimweni ezinjalo.

I-Schwannomatosis itholakala kanjani?

Udokotela uzohlonza lesi simo ngokwenza ukuhlolwa ngokomzimba nokuhlolwa . Ngesikhathi sokuhlolwa, udokotela uzokubuza ngezimpawu zakho, ukuthi sezinesikhathi esingakanani zikhona, nokuthi ngabe kukhona yini emndenini wakho oke waba nezimo ezifanayo.

Ngenxa yokuthi izimpawu ze-schwannomatosis zifana nezezinye izifo futhi kungaba nzima ukukhomba ukuthi ubuhlungu buvelaphi, ngezinye izikhathi kungaba nzima ukuthola isifo ngokushesha. Kodwa-ke, ngoba odokotela manje basebenzisa izindlela zokuxilonga ezibuyekeziwe, kulula ukuhlonza izinhlobo ze-schwannomatosis. Isibonelo, ukuze utholakale une-schwannomatosis ehlobene ne-SMARCB1, kumele okungenani ube nenye yalezi ezilandelayo:

• Kumelwe kube okungenani i-schwannoma eyodwa, futhi ukuhlolwa kofuzo kusetshenziswa igazi noma amathe kumele kuqinisekise ukuthi kukhona ukuguquka kwezakhi zofuzo ze-SMARCB1.
• Kumelwe kube okungenani ama-schwannoma amabili, futhi ukuhlolwa kwe-biopsy kwesinye sezimila kumele kuqinisekise ukuthi sinokuguqulwa kwezakhi zofuzo kwe-SMARCB1.

Yiziphi izivivinyo ezisetshenziswa ukuxilonga iSchwannomatosis?

Ukuhlolwa kwezithombe ezifana ne-MRI (Magnetic Resonance Imaging) kungasiza udokotela wakho ukuthola i-schwannoma. Uma kutholakala isimila kulokhu kuhlolwa, udokotela wakho angase athathe isampula encane yesimila ukuze ihlolwe (i-biopsy).Ungaku-oda. Ngemuva kwalokho, ngokubheka amangqamuzana ngaphansi kwe-microscope, ungazi kahle ukuthi hlobo luni lwesimila. Ngaphezu kwalokho, ukuhlolwa kwegazi ngofuzo kungakhomba nokuthi ngabe unezinguquko zofuzo ezibangela uhlobo ngalunye.

Iphathwa kanjani i-Schwannomatosis?

Uma ngikhuluma iqiniso, okwamanje alikho ikhambi le-Schwannomatosis, ngakho-ke umgomo oyinhloko wokwelapha ukuphatha izimpawu .

Udokotela wakho angase akunike imithi ehlukahlukene ukusiza ekunciphiseni ubuhlungu bakho . Le mithi izoncika ezintweni ezifana nendawo lapho ubuhlungu bakho bukhona nokuthi bukhulu kangakanani.

Uma ubuhlungu bungalawulwa ngemithi, noma uma ubuhlungu bukhulu kakhulu, udokotela wakho angase acabangele ukususwa kwe-schwannoma ngokuhlinzwa noma ukudluliselwa ezivivinyweni zemitholampilo . Kodwa-ke, udokotela wakho uzonquma ukuthi lezi yizinketho eziphephile yini kuwe. Ukuhlinzwa kungabangela ukulimala kwemizwa, futhi kunethuba lokuthi izimila zingase zikhule futhi ngemva kokususwa.

Kuyini ukubikezela kokugula komuntu one-Schwannomatosis?

Lokhu kuyahlukahluka ngempela kumuntu nomuntu . Kuye ngobukhulu, inombolo, kanye nendawo yama-schwannoma emzimbeni wakho. Abanye abantu bangase babe nama-schwannoma ambalwa nje, kanti abanye bangase babe namaningi. Angase abe sendaweni eyodwa emzimbeni, noma angase asakazeke ezindaweni eziningi. Ngakho-ke izimpawu azifani kuwo wonke umuntu.

Uphawu olucindezela kakhulu lwe-Schwannomatosis ubuhlungu obungapheli . Ukuphila nobuhlungu, ikakhulukazi uma bukhulu, kungaba yinselele yangempela. Lobuhlungu bungathinta impilo yakho yengqondo neyomzimba. Uma izimpawu ze-Schwannomatosis zikwenza uzizwe ucindezelekile noma ungakwazi ukusebenza empilweni yakho yomuntu siqu noma yezenhlalo, qiniseka ukuthi ukhuluma nodokotela. Ukukhuluma nomeluleki wezempilo yengqondo nakho kungasiza.

Kunezindlela zokwelapha ezingasiza ukulawula izimpawu. Abantu abaningi bathola impumuzo ezimpawini ngemithi. Abanye bangadinga ukuhlinzwa ukuze kususwe i-cyst. Kodwa khumbula, kunethuba lokuthi i-cyst izokhula futhi ngemva kokuba isusiwe.

Ingabe i-Schwannomatosis ithinta impilo yesiguli?

I-Schwannomatosis ayithinti ngqo isikhathi sokuphila . Kodwa-ke, ubuhlungu obungapheli nezinye izimpawu ezibangelwa yiyo bungathinta ikhwalithi yokuphila. Uma unenkinga ngalokhu, kungcono ukukhuluma nodokotela wakho ngqo. Njengoba isimo somuntu ngamunye sihlukile, nguye kuphela ongakunikeza ulwazi lwakamuva mayelana nesimo sakho.

Kufanele ngimbone nini udokotela?

Ubuhlungu ongeke uthole sizathu sabo.Uma unezimpawu ezifana nobuthakathaka bemisipha , qiniseka ukuthi ubona udokotela. Futhi, uma ubona iqhubu elisha noma isimila noma kuphi emzimbeni wakho, kubalulekile ukulibonisa udokotela.

Uma usuvele une-Schwannomatosis, yazisa udokotela wakho uma ubona noma yiziphi izinguquko ezimpawu zakho, njengokwanda kobuhlungu.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma ubona udokotela wakho, kuyasiza ukubuza imibuzo efana nale:

• Yini engingayenza ukuze ngiphathe ubuhlungu?
• Zikhona yini ezinye izindlela ngaphandle kwemithi yokubulala izinhlungu?
• Ingabe ngizodinga ukuhlinzwa?
• Iyini imiphumela emibi yokwelashwa?
• Ingabe izingane zami zingazuza lesi simo esikhathini esizayo?

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Ukuphila nobuhlungu obungapheli obuhambisana ne-Schwannomatosis kungaba nzima kakhulu. Ezinye izinsuku zilula kunezinye. Ngisho noma unezinhlelo, ubuhlungu bungaphoqa ukuthi uzibeke eceleni bese uhlala ekhaya ukuze uphumule. Lokhu kungaphazamisa imisebenzi yakho yomuntu siqu neyezenhlalo. Kodwa ungavumeli i-Schwannomatosis ilawule impilo yakho.

Udokotela angakusiza ukuthola uhlelo lokwelapha olungcono kakhulu lokuphatha izimpawu zakho. Uma ubuhlungu obungapheli buthinta impilo yakho yengqondo, ungase uzuze nangokubona umeluleki wezempilo yengqondo . Ukuhlinzwa kanye nezivivinyo zemitholampilo nazo zingaba izinketho. Ngakho-ke, buza udokotela wakho ukuthi yini etholakalayo ukukusiza uhlale uphambi kwezimpawu zeSchwannomatosis. Khumbula ukuthi awuwedwa, futhi kukhona odokotela namaqembu okusekelana ukukusiza kulolu hambo.

I- Schwannomatosis, i-neurofibromatosis, ubuhlungu obungapheli, izifo zofuzo, i-NF2, i-SMARCB1, i-LZTR1, izifo zezinzwa