Ngaba unazo naziphi na izigaqa okanye amaqhuma angaziwayo emzimbeni wakho? Isenokuba yiSchwannomatosis!

Ngaba ngamanye amaxesha uziva intlungu engapheliyo emzimbeni wakho, engachazwanga? Okanye ngamanye amaxesha uziva amaqhuma amancinci phantsi kolusu lwakho? Nangona singazinaki kangako ezi zinto, ngamanye amaxesha zinokuba ziimpawu zesifo esithile. Namhlanje, siza kuthetha ngesifo esingavamanga kangako, kodwa kubalulekile ukwazi ngaso. Leyo yimeko ebizwa ngokuba yi-'Schwannomatosis'.

Yintoni i-'Schwannomatosis'? Masiyiqonde ngokulula!

Ngamafutshane, iSchwannomatosis yimeko ebangelwa lutshintsho oluthile kwiijini zethu. Kulapho kuvela khona iithumba (iithumba) kwinkqubo yemithambo-luvo yomzimba wethu, oko kukuthi, kwimithambo-luvo. Sizibiza ngokuba zii-'schwannomas'. Ezi 'schwannomas' zikhula kuhlobo oluthile lweseli olujikeleze imithambo-luvo yethu kwaye lusebenza njenge-insulator. Ezi seli zibizwa ngokuba zii-'Schwann cells'. Zifumaneka kakhulu kwinkqubo yethu yemithambo-luvo ejikeleze ingqondo kunye nomqolo, kwiingcambu zemithambo-luvo, kwaye apho imithambo-luvo idibana khona nemisipha.

I-Schwannomatosis yimeko edla ngokubangela iintlungu ezingapheliyo kubantu abadala abancinci, abaphakathi kweminyaka engama-20 nama-40 ubudala. Lolunye uhlobo lwe-neurofibromatosis, iqela leethumba ezenzeka kwinkqubo yemithambo-luvo.

Ngaba kukho iintlobo zeSchwannomatosis?

Ewe, kukho iintlobo ezininzi eziphambili zeSchwannomatosis. Ezi zahlulwe ngokweenguqu zemfuza ezibangela uhlobo ngalunye. Ezi ntlobo zezi:

• `NF2` - i-`schwannomatosis` enxulumeneyo (eyayisakuba yi-`neurofibromatosis type 2`).
• `SMARCB1` - inxulumene ne`schwannomatosis`.
• `LZTR1` - inxulumene ne`schwannomatosis`.
• `22q` - i-`schwannomatosis` enxulumeneyo (oku kubangelwa lutshintsho kwinxalenye ye-chromosome 22).
• I-Schwannomatosis ayichazwanga ngenye indlela (NOS).
• I-Schwannomatosis engekho kwenye indawo ehleliweyo (NEC).

Nangona la magama esenokubonakala eyinkimbinkimbi kancinci, ukuwahlulahlula ngolu hlobo luncedo kakhulu koogqirha ekuxilongeni isifo ngokuchanekileyo nasekunikeni iingcebiso ezifanelekileyo.

Ingaba le meko ibizwa ngokuba yi-'Schwannomatosis' inqabile kangakanani?

I-Schwannomatosis lolona hlobo lunqabileyo lwe-neurofibromatosis. Uqikelelo oluchanekileyo lokuba bangaphi abantu abanayo luyahluka. Ezinye izifundo zibonisa ukuba i-schwannomatosis enxulumene ne-NF2 inokuchaphazela malunga nomntu omnye kwabangama-30,000 . Xa ezinye iintlobo zidityanisiwe, ichaphazela umntu omnye kwabangama-70,000 .

Asinguye wonke umntu ofumana i-schwannoma ene-schwannomatosis. Kwi-schwannomatosis, kuvela i-schwannomas ezininzi. Ngokubanzi, i-schwannoma enye ixhaphake kakhulu kune-schwannomatosis ezininzi. Oku kuthetha ukuba akwenzeki kubantu abaninzi.

Zithini iimpawu zeSchwannomatosis?

Uphawu oluphambili noluqhelekileyo olubonakala kule meko ziintlungu . Le ntlungu yenzeka kuba iithumba ze-schwannoma zicinezela imithambo-luvo kunye nezicubu ezingqongileyo. Ingaba le ntlungu injani?

• Inokuba yintlungu engapheliyo , oko kuthetha ukuba inokuhlala iinyanga, kwaneminyaka.
• Uhlobo lwentlungu lunokwahluka ukusuka koluncinci ukuya kolunzima .
• Le ntlungu inokuviwa naphi na emzimbeni , kungekuphela nje apho ithumba likhoyo. Ngamanye amaxesha, intlungu inokuvela kwindawo engenanto yakwenza nendawo ithumba elikuyo.
• Intlungu inokwanda ngokuhamba kwexesha.

Khawucinge nje, unentlungu engapheliyo ehla emlenzeni wakho, ehamba nokungaziva. Ayipheli nasemva kokuba usele amayeza. Usenokucinga ukuba ngumkhuhlane nje. Kodwa isenokuba yintlungu ebangelwa yiSchwannomatosis.

Ukongeza kwiintlungu, ezinye iimpawu zinokuvela ngokuxhomekeke kwindawo ekuyo ithumba. Umzekelo:

• Ukuziva ngathi kukho ukurhawuzelela okanye ukuziva ngathi kukho ukubetheka ngombane .
• Ubuthathaka bemisipha okanye ukungasebenzi kakuhle kwemisipha.
• Amaqhuma okanye ukudumba phantsi kolusu (apho kuye kwavela khona amaqhuma) kunokuvakala esandleni.

Nangona ezi mpawu zihlala ziqala emva kweminyaka engama-20 nangaphambi kweminyaka engama-40 , izifundo zibonisa ukuba zinokubonakala nakweyiphi na iminyaka.

Yintoni ebangela iSchwannomatosis?

Eyona nto ibangela iSchwannomatosis lutshintsho lwemfuza (uguquko). Oku kuyinyani ngakumbi kwiijini ezibizwa ngokuba yiNF2, SMARCB1, okanye iLZTR1. Ezi jini zifumaneka kwi -chromosome 22 .

Ezi jini zisebenza njenge-'tumor suppressors', ezilawula ukwakheka kwee-tumor emizimbeni yethu. Oko kukuthi, ezi jini zilawula ukuba iiseli kufuneka zikhule kwaye zahlulwe kangaphi. Ngoko ke, ukuba kukho 'utshintsho' kwi-'tumor suppressor' gene efana nale, iiseli zethu azifumani miyalelo eziyidingayo ukulawula ukukhula kweeseli. Ngenxa yoko, iiseli ziqala ukukhula kwaye zahlulwe ngokukhawuleza, ngaphandle kolawulo. Yileyo ndlela ezi 'tumor' zenzeka ngayo.

Kwezinye iimeko zeSchwannomatosis, unobangela ochanekileyo usenokungaziwa. Oku kuthetha ukuba le meko inokwenzeka nokuba akukho tshintsho lwemfuza oluchongiweyo okwangoku.

Ingaba oku kukufuzwa ngelifa? (`Ingaba i-schwannomatosis ifuzwa ngelifa?`)

Ezinye iimeko ze-'Schwannomatosis'Ingazuzwa njengelifa . Ngokufutshane, phakathi kwe-15% kunye ne-25% yabantu abaneSchwannomatosis banembali yosapho yale meko. Idluliselwa ngendlela elawulwa yi-autosomal. Ngamafutshane, ukuba omnye wabazali ufumana ikopi yejini ethwala utshintsho lwejini, umntwana unokuba nale meko.

Nangona kunjalo, uninzi lweemeko zeSchwannomatosis zenzeka ngokungacwangciswanga . Oku kuthetha ukuba umntu unokufumana iSchwannomatosis ngokuphuhlisa olu tshintsho lwemfuza, nokuba akukho mntu kusapho lwakhe wayenale meko ngaphambili.

Ziziphi iingxaki ezinokubakho zeSchwannomatosis?

Uninzi lwee-tumor ze-schwannoma azingomhlaza, azinabungozi (ii-tumor ezingengomhlaza). Oko kuthetha ukuba azingomhlaza. Nangona kunjalo, kunqabile kakhulu ukuba ezinye ii-tumor zibe ngumhlaza. Yiyo loo nto oogqirha benika ingqalelo koku.

Enye ingxaki enkulu yintlungu engapheliyo . Le ntlungu iqhubekayo inokuba nefuthe elikhulu kwimpilo yengqondo yomntu. Xa kuba nzima ukwenza imisebenzi yemihla ngemihla kwaye xa bengakwazi ukuzenzela izinto, iimeko ezinje ngokudakumba kunye noxinzelelo zinokuvela. Ngenxa yoko, abantu abaninzi bakufumanisa kuluncedo ukuthetha nomcebisi wezempilo yengqondo kwiimeko ezinjalo.

Ifunyanwa njani iSchwannomatosis?

Ugqirha uza kuyixilonga le meko ngokwenza uvavanyo lomzimba novavanyo . Ngexesha lovavanyo, ugqirha uza kukubuza ngeempawu zakho, ukuba zikho ixesha elingakanani, nokuba kukho nabani na kusapho lwakho okhe waba neemeko ezifanayo.

Ngenxa yokuba iimpawu ze-schwannomatosis zifana nezezinye izifo kwaye kunokuba nzima ukukhomba apho intlungu ivela khona, ngamanye amaxesha kunokuba nzima ukwenza uxilongo ngoko nangoko. Nangona kunjalo, ngenxa yokuba oogqirha ngoku basebenzisa iindlela zokuxilongwa ezihlaziyiweyo, kulula ukuchonga iintlobo ze-schwannomatosis. Umzekelo, ukuze kufunyanwe ukuba une-schwannomatosis enxulumene ne-SMARCB1, kufuneka ubuncinane ube nenye yezi zilandelayo:

• Kufuneka kubekho ubuncinane i-schwannoma enye, kwaye uvavanyo lwemfuza olusebenzisa igazi okanye amathe kufuneka luqinisekise ukuba kukho utshintsho kwi-gene ye-SMARCB1.
• Kufuneka kubekho ubuncinane ii-schwannomas ezimbini, kwaye i-biopsy yesinye sezi thumba kufuneka iqinisekise ukuba sinotshintsho lwemfuza lwe-SMARCB1.

Zeziphi iimvavanyo ezisetyenziswayo ukuxilonga iSchwannomatosis?

Uvavanyo lwemifanekiso olufana ne-MRI (Magnetic Resonance Imaging) lunokunceda ugqirha wakho afumane i-schwannoma. Ukuba kufunyanwe ithumba kolu vavanyo, ugqirha wakho angathatha isampuli encinci yethumba ukuze alivavanye (i-biopsy).Ungayi-odola. Emva koko, ngokujonga iiseli phantsi kwe-microscope, unokwazi ukuba loluphi uhlobo lwethumba. Ukongeza, uvavanyo lwegazi oluvela kwimfuza lunokuchonga ukuba ngaba unenguqu kwimfuza ebangela uhlobo ngalunye.

Iphathwa njani iSchwannomatosis?

Inyaniso kukuba, okwangoku akukho nyango lweSchwannomatosis, ngoko ke injongo ephambili yonyango kukulawula iimpawu .

Ugqirha wakho unokukunika amayeza ahlukeneyo ukunceda ekunciphiseni iintlungu zakho . La mayeza aya kuxhomekeka kwizinto ezifana nendawo ekuyo intlungu yakho kunye nokuba inzima kangakanani.

Ukuba iintlungu azilawulwa ngamayeza, okanye ukuba iintlungu zinzima kakhulu, ugqirha wakho unokuqwalasela ukususwa kwe-schwannoma ngotyando okanye ukuthunyelwa kwiimvavanyo zeklinikhi . Nangona kunjalo, ugqirha wakho uya kugqiba ukuba ezi ziindlela ezikhuselekileyo na kuwe. Utyando lunokubangela umonakalo kwimithambo-luvo, kwaye kukho ithuba lokuba iithumba zinokukhula kwakhona emva kokususwa.

Ithini ingqikelelo yomntu oneSchwannomatosis?

Oku kuyahluka ngokwenene kumntu nomntu . Kuxhomekeke kubukhulu, inani, kunye nendawo ezikuyo iithumba ze-schwannoma emzimbeni wakho. Abanye abantu banokuba nezimbalwa nje, ngelixa abanye banokuba nezininzi. Zisenokuba kwindawo enye emzimbeni, okanye zisasazeke kwiindawo ezininzi. Ngoko ke iimpawu azifani kuye wonke umntu.

Uphawu olubangela intlungu kakhulu lweSchwannomatosis ziintlungu ezingapheliyo . Ukuphila nentlungu, ingakumbi ukuba inzima kakhulu, kunokuba ngumceli mngeni wokwenene. Le ntlungu inokuchaphazela impilo yakho yengqondo neyomzimba. Ukuba iimpawu zeSchwannomatosis zikwenza uzive udandathekile okanye ungakwazi ukusebenza kubomi bakho bobuqu okanye bentlalo, qiniseka ukuba uthetha nogqirha. Ukuthetha nomcebisi wezempilo yengqondo kunokunceda.

Kukho unyango olunceda ukulawula iimpawu. Abantu abaninzi bafumana isiqabu kwiimpawu ngamayeza. Abanye banokufuna utyando ukuze kususwe i-cyst. Kodwa khumbula, kukho ithuba lokuba i-cyst iya kukhula kwakhona emva kokuba isusiwe.

Ngaba iSchwannomatosis ichaphazela ubomi bayo?

I-Schwannomatosis ayichaphazeli ngqo ixesha lokuphila . Nangona kunjalo, iintlungu ezingapheliyo kunye nezinye iimpawu ezibangelwa yiyo zinokuchaphazela umgangatho wobomi. Ukuba unenkxalabo malunga noku, kungcono ukuthetha nogqirha wakho ngqo. Ekubeni imeko yomntu wonke yahlukile, nguye kuphela onokukunika ulwazi lwamva nje malunga nemeko yakho.

Ndifanele ndimbone nini ugqirha?

Intlungu ongenakuyifumana isizathu sayo.Ukuba uneempawu ezifana nobuthathaka bemisipha , qiniseka ukuba ubona ugqirha. Kwakhona, ukuba ubona iqhuma elitsha okanye ithumba naphi na emzimbeni wakho, kubalulekile ukulibonisa ugqirha.

Ukuba sele uneSchwannomatosis, yazisa ugqirha wakho ukuba ubona naluphi na utshintsho kwiimpawu zakho, njengokwanda kwentlungu.

Ndingayibuza yiphi imibuzo ugqirha wam?

Xa ubona ugqirha wakho, kuyanceda ukubuza imibuzo efana nale:

• Ndingenza ntoni ukuze ndilawule iintlungu?
• Ngaba zikho ezinye iindlela ngaphandle kweyeza lokudambisa iintlungu?
• Ngaba ndiza kufuna utyando?
• Zithini iziphumo ebezingalindelekanga zonyango?
• Ngaba abantwana bam banokufumana esi simo kwixesha elizayo?

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Ukuphila nentlungu engapheliyo ehambisana neSchwannomatosis kunokuba nzima kakhulu. Ezinye iintsuku zilula kunezinye. Nokuba unezicwangciso, intlungu inokukunyanzela ukuba uzibeke ecaleni kwaye uhlale ekhaya uphumle. Oku kunokuphazamisana nemisebenzi yakho yobuqu neyentlalo. Kodwa ungavumeli iSchwannomatosis ilawule ubomi bakho.

Ugqirha angakunceda ufumane isicwangciso sonyango esifanelekileyo sokulawula iimpawu zakho. Ukuba iintlungu ezingapheliyo zichaphazela impilo yakho yengqondo, ungazuza ngokubona umcebisi wezempilo yengqondo . Utyando kunye novavanyo lweklinikhi nazo zinokuba zizinketho. Ngoko ke, buza ugqirha wakho ukuba yintoni ekhoyo enokukunceda uhlale uphambi kweempawu zeSchwannomatosis. Khumbula ukuba awuwedwa, kwaye kukho oogqirha kunye namaqela enkxaso ukukunceda kolu hambo.

I- Schwannomatosis, i-neurofibromatosis, iintlungu ezingapheliyo, izifo zemfuza, i-NF2, i-SMARCB1, i-LZTR1, izifo zemithambo-luvo