Uyini i-MEN-2? Izimpawu, Izimbangela, Nokwelashwa

I-MEN-2 iyisimo esingavamile sezofuzo esenza kube khona ukukhula kwezinhlobo zezisu ezithile ezikhiqiza ama-hormone emzimbeni wakho. Lezi zisu zingaba yizinhlobo ezinhle (ezingezona ezomdlavuza) noma ezimbi (ezomdlavuza), futhi ngokuvamile zithinta i-thyroid yakho, amagciwane e-adrenal, nama-glands e-parathyroid.

Lesi simo esidluliselwa ezizukulwaneni sivela emindenini futhi sibangelwa izinguquko ku-gene elilodwa elibizwa nge-RET. Nakuba igama lingase lizwakale liyesabekisa, ukuqonda i-MEN-2 kungakusiza wena neqembu lakho lokunakekelwa kwezempilo ukuba lenze uhlelo oluphumelelayo lokuqapha nokuphatha.

Uyini i-MEN-2?

I-Multiple Endocrine Neoplasia Type 2 (MEN-2) iyisimo sezifo zomdlavuza esidluliselwa ezizukulwaneni esithinta i-endocrine system yakho. I-endocrine system yakho ihlanganisa amagciwane akhiqiza ama-hormone ukulawula imisebenzi eminingi yomzimba njengokuguqulwa kwemisebenzi yomzimba, ukucindezeleka kwegazi, namanqanaba e-calcium.

Lesi simo sithola igama lawo ngoba sibangela izisu eziningi (neoplasia) emagcineni amaningi e-endocrine ngesikhathi esisodwa. Cabanga ngakho njengezitsha zokukhiqiza ama-hormone zomzimba wakho ezikhula ngokukhula okungaphazamisa ukukhiqizwa kwama-hormone okuvamile.

I-MEN-2 iza ngezinhlobo ezimbili eziyinhloko. I-MEN-2A yilona uhlobo oluvamile, kuyilapho i-MEN-2B ingavamile kodwa ivame ukuba namandla kakhulu. Zombili izinhlobo zibangelwa ukuguqulwa kwe-gene efanayo kodwa zithinta abantu ngezindlela ezahlukene.

Ziyini izinhlobo ze-MEN-2?

I-MEN-2A yilona uhlobo oluvamile, likhiqiza cishe u-95% wazo zonke izimo ze-MEN-2. Abantu abane-MEN-2A ngokuvamile bathuthukisa umdlavuza we-thyroid we-medullary, futhi abaningi nabo bathola izisu emagcineni abo e-adrenal ebizwa nge-pheochromocytomas.

Abanye abantu abane-MEN-2A nabo bathuthukisa izisu ze-parathyroid, ezingabangela izinkinga namanqanaba e-calcium egazini lakho. Iqembu elincane lingase libe nesimo esibizwa nge-Hirschsprung disease, esithinta umthambo omkhulu.

I-MEN-2B ayivamile kodwa inamandla kakhulu. Abantu abalona uhlobo ngokuvamile bathuthukisa umdlavuza we-thyroid we-medullary besebancane, kanye ne-pheochromocytomas. Bangase babe nezici zomzimba ezihlukile njengeziqongo olulimi lwabo namazinyo, nomzimba omude, onqamile.

Ziyini izimpawu ze-MEN-2?

Izimpawu ze-MEN-2 zingase zihluke kakhulu kuye ngokuthi yimaphi amagciwane athintekile nohlobo luni lwezisu ezithuthukayo. Abantu abaningi abaziboni izimpawu ekuqaleni, kungakho ukuhlolwa kwezofuzo nokuqapha okuvamile kubaluleke kakhulu emindenini enalesi simo.

Izimpawu ezivamile zihambisana nezinhlobo ezahlukene zezisu ezingathuthuka:

• Isiqongo noma ukukhula entanyeni yakho okuvela eziswini ze-thyroid
• Ubunzima bokuginya noma izwi elihlwithiwe
• Izikhathi zokucindezeleka kwegazi eziphakeme eziya futhi ziye
• Ukushaya kwenhliziyo okusheshayo noma ukushaya kwenhliziyo
• Ubuhlungu obukhulu ekhanda
• Ukukhipha ukushisa okukhulu
• Ukukhathazeka noma ukuzizwa ukhungathekile
• Amatshe ezinso noma ubuhlungu emathanjeni okuvela ezinkingeni ze-calcium
• Ukuphefumula noma ukulahlekelwa ukudla
• Ubuthakathaka bemisipha noma ukukhathala

Ngokuqondene ne-MEN-2B ngokukhethekile, ungase uqaphele iziqongo olulimi lwakho, amazinyo, noma ngaphakathi emlonyeni wakho. Abanye abantu nabo banezici ezibonakalayo zomzimba omkhulu, onqamile ngamalungu amade.

Lezi zimpawu zingase zithuthuke kancane kancane ezinyangeni noma eminyakeni eminingi. Abanye abantu bahlangabezana nezikhathi eziphuthumayo zezimpawu, ikakhulukazi lezo ezihlobene ne-pheochromocytomas, ezingabangela ukuphakama okukhulu kokucindezeleka kwegazi nokukhawuleza kwenhliziyo.

Yini ebangela i-MEN-2?

I-MEN-2 ibangelwa ukuguqulwa kwe-RET gene, evame ukusiza ukulawula ukukhula kweseli nokukhula. Uma le gene ingasebenzi kahle, iyalela amaseli athile ukuba akhule futhi ahlukanise uma kungenjalo, okuholela ekwakheni kwezisu.

Lolu shintsho lwezofuzo lulidluliselwa ezizukulwaneni, okusho ukuthi ludluliselwa kubazali kubantwana. Uma omunye wabazali bakho enesimo se-MEN-2, unethuba elingu-50% lokudluliselwa lesi simo. Noma kunjalo, cishe u-5% wezimo ze-MEN-2 zivela kubantu abangenayo umlando womndeni, okubonisa ukuthi ukuguqulwa kwenzeke ngokungalindelekile.

I-RET gene isebenza njengomshini olawula ukuthi amaseli kufanele akhule nini. Ku-MEN-2, lo mshini ubanjwa endaweni “eyo” (on), okubangela amaseli emagcineni akho akhiqiza ama-hormone ukuba azinze ngokungapheli futhi akhe izisu.

Izinhlobo ezahlukene zokuguqulwa kwe-RET gene zibangela izinhlobo ezahlukene ze-MEN-2. Indawo ethile nohlobo lokuguqulwa kungasiza odokotela ukubikezela ukuthi yiziphi izitho ezingase zithinteke nokuthi lesi simo singaba namandla kangakanani.

Nini okufanele ubona udokotela nge-MEN-2?

Kufanele ubona udokotela uma unemlando womndeni we-MEN-2 noma umdlavuza ohlobene nawo, ngisho noma ungenakho izimpawu. Ukutholakala kwangaphambi kwesikhathi ngokuhlolwa kwezofuzo kungasindisa impilo, njengoba kuvumela ukwelashwa okuvimbelayo ngaphambi kokuthi umdlavuza uthuthuke.

Funani ukunakekelwa kwezokwelapha ngokushesha uma uhlangabezana nezikhathi eziphuthumayo zokucindezeleka kwegazi okuphezulu, ubuhlungu obukhulu ekhanda, ukushaya kwenhliziyo okusheshayo, noma ukukhipha ukushisa okukhulu. Lokhu kungaba izimpawu ze-pheochromocytoma, engabangela ukuphakama okungozi kokucindezeleka kwegazi.

Xhumana nodokotela wakho uma uqaphela isiqongo entanyeni yakho, izinguquko ezwini lakho, ubunzima bokuginya, noma ubuhlungu obungapheli emathanjeni. Nakuba lezi zimpawu zingaba nezizathu eziningi, zidinga ukuhlolwa, ikakhulukazi uma unezingozi ze-MEN-2.

Uma usuvele utholakala une-MEN-2, landela uhlelo lwakho lokuqapha eduze. Ukuhlolwa okuvamile kungabamba izisu ezintsha ekuqaleni lapho zilawuleka kakhulu.

Ziyini izingozi ze-MEN-2?

Ingozi eyinhloko ye-MEN-2 ukuba nemlando womndeni wesimo. Njengoba i-MEN-2 ilidluliselwa ezizukulwaneni ngendlela ye-autosomal dominant, udinga ukudluliselwa ikhophi elilodwa le-gene eguquliwe kuye noma yimuphi umzali ukuze uthuthukise lesi simo.

Nazi izingozi eziyinhloko okufanele uzicabangele:

• Ukuba nomzali onen-MEN-2 (ithuba elingu-50% lokudluliselwa)
• Umlando womndeni womdlavuza we-thyroid we-medullary
• Umlando womndeni we-pheochromocytoma
• Umlando womndeni wezisu ze-parathyroid
• Ukuzalwa emndenini onokuguqulwa kwe-RET gene

Ngokungafani nezinye izimo eziningi, ubudala, indlela yokuphila, nezici zemvelo azithinti kakhulu ingozi yakho yokuthuthukisa i-MEN-2. Ingxenye yezofuzo iyona into ebaluleke kakhulu.

Noma kunjalo, uma uthwala ukuguqulwa kwe-gene, izici ezithile zingase zithinte ukuthi izimpawu zivele nini noma zibe nzima kangakanani. Ukuqina, ukukhulelwa, nezinye izimo zezokwelapha ngezinye izikhathi zingase zibangele izimpawu kubantu abasenesimo sezofuzo.

Ziyini izinhlanganisela ezingase zenzeke nge-MEN-2?

Inhlanganisela ebucayi kakhulu ye-MEN-2 ukukhula komdlavuza onamandla, ikakhulukazi umdlavuza we-thyroid we-medullary. Ngaphandle kokuqapha nokuphatha okufanele, lo mdlavuza ungasakazeka kuma-lymph nodes nakwezinye izingxenye zomzimba wakho.

Izinhlobo eziningi zezinkinga zingase zivele ezinhlwini ezahlukene zezisu:

• Umdlavuza we-thyroid we-medullary osakazeka kuma-lymph nodes noma ezingxenyeni ezikude zomzimba
• Ukuphakama okungozi kokucindezeleka kwegazi okuvela ku-pheochromocytomas
• Izinkinga zenhliziyo ezivela ekuqinisweni kokucindezeleka kwegazi okungaphathwayo
• Isifo sohlangothi noma isifo senhliziyo phakathi kwezimo ezinzima zokucindezeleka kwegazi
• Amatshe ezinso nezingqinamba emathanjeni okuvela eziswini ze-parathyroid
• I-osteoporosis eqinile okuvela ekungalingani kwe-calcium
• Ukuvimbela umthambo kubantu abane-Hirschsprung disease

I-Pheochromocytomas ingabangela izinhlanganisela ezingozi kakhulu ngesikhathi sokuhlinzwa, ukukhulelwa, noma izikhathi zokucindezeleka komzimba. Lezi zisu zingabangela ukuphakama kokucindezeleka kwegazi okubulalayo uma zingalawulwa kahle.

Izindaba ezinhle ukuthi ngokuqapha nokuphatha okufanele, izinhlanganisela eziningi zingavimbeka noma ziphathwe kahle. Ukutholakala kwangaphambi kwesikhathi nokuhlinzwa okuvimbelayo kungasusa ingozi yomdlavuza ngokuphelele ezimweni eziningi.

I-MEN-2 itholwa kanjani?

Ukutholakala kwe-MEN-2 ngokuvamile kuqala ngokuhlolwa kwezofuzo, ikakhulukazi uma unemlando womndeni wesimo. Ukuhlolwa okulula kwegazi kungathola ukuguqulwa kwe-RET gene futhi kuqinisekise ukuthi uthwala yini ushintsho lwezofuzo olubangela i-MEN-2.

Udokotela wakho uzobuye asebenzise ezinye izilingo eziningi ukuhlola izisu nokuqapha isimo sakho. Ukuhlolwa kwegazi kungalinganisa ama-hormone athile nama-tumor markers abonisa ukuthi izisu zikhona yini nokuthi zisebenza kangakanani.

Izifundo zokuthola izithombe zisiza ukuthola nokuhlola izisu kulo lonke umzimba wakho. Lokhu kungase kuhlanganise i-ultrasound yentanyeni yakho, i-CT noma i-MRI scans yesisu sakho, ne-scans ezikhethekile ezingathola izisu ezikhiqiza ama-hormone.

Uma usuvele unezimpawu, udokotela wakho angase enze ezinye izilingo njengokulinganisa ukucindezeleka kwegazi lakho phakathi kwezikhathi, ukuhlola amanqanaba e-calcium, noma ukuthatha amasampula ezinye izinto eziqondene nezisu.

Yini ukwelashwa kwe-MEN-2?

Ukwelashwa kwe-MEN-2 kugxile ekuvimbeleni ukukhula komdlavuza nokuphatha noma iyiphi izisu eyenzeka. Indlela yokwelapha ixhomeke ekuguqulweni kwezofuzo zakho, izisu ezikhona, nempilo yakho yonke.

Ukuhlinzwa kuvame ukuba yilona ukwelashwa okuyinhloko. Kubantu abanezingozi eziphezulu zokuguqulwa kwezofuzo, odokotela bangase bancoma ukususwa kwe-thyroid okuvimbelayo ngaphambi kokuthi umdlavuza uthuthuke. Lokhu kuhlinzwa, okubizwa ngokuthi i-prophylactic thyroidectomy, kungavimbela umdlavuza we-thyroid we-medullary ngokuphelele.

Izindlela zokwelapha zihlanganisa izinketho eziningi:

• I-Prophylactic thyroidectomy ukuvimbela umdlavuza we-thyroid
• Ukususwa kwe-pheochromocytomas uma zithuthuka
• Ukuhlinzwa kwe-parathyroid ngezinkinga ezihlobene ne-calcium
• Ukwelashwa kwe-hormone replacement ngemuva kokususwa kwamagciwane
• Imithi yokucindezeleka kwegazi yokulawula i-pheochromocytoma
• Imithi yokwelapha okuqondiswe kubantu abadala abane-cancers
• Ukuqapha okuvamile ngokuhlolwa kwegazi nokufakwa kwezithombe

Isikhathi sokuhlinzwa sibalulekile futhi sixhomeke kubudala bakho, uhlobo lokuguqulwa kwezofuzo, nezici zezisu. Iqembu lakho lokunakekelwa kwezempilo lizohlangana nawe ukuze liqonde isikhathi esifanele sezinqubo zokuvimbela.

Ngemuva kokuhlinzwa, uzodinga ukwelashwa kwe-hormone replacement ukuze ubuyekeze ama-hormone amagciwane akho asuswe avame ukuwakhiqiza. Lokhu ngokuvamile kuhlanganisa i-thyroid hormone futhi ngezinye izikhathi amanye ama-hormone kuye ngokuthi yimaphi amagciwane asuswe.

Indlela yokuphatha i-MEN-2 ekhaya?

Ukuphatha i-MEN-2 ekhaya kuhilela ukulandela uhlelo lwakho lokwelapha ngokucophelela nokuba qaphile ngezinguquko ezimpawu zakho. Ukuthatha imithi yakho ye-hormone replacement ngokuqondile njengoba kuqokiwe kubalulekile ekuqondeni impilo yakho namanqanaba amandla.

Gcina idayari yezimpawu ukuze uqaphe noma yiziphi izinguquko noma izimpawu ezintsha ezithuthukayo. Lolu lwazi lusiza iqembu lakho lokunakekelwa kwezempilo ukulungisa ukwelashwa kwakho nokubamba izinkinga ezintsha ekuqaleni.

Nazi izindlela ezibalulekile zokuphatha ekhaya:

• Thatha yonke imithi njengoba kuqokiwe, ikakhulukazi ukubuyiselwa kwama-hormone
• Qapha ukucindezeleka kwegazi lakho njalo uma une-pheochromocytomas
• Gcina ulwazi loxhumano oluphuthumayo olutholakala kalula
• Gcina ukudla okunempilo kanye nokuzivocavoca okuvamile
• Hlanganyela kuyo yonke imiqhudelwano yokulandelela ebhaliwe
• Xhumana ngokukhululekile namalungu omndeni ngezingozi zezofuzo
• Lawula ukucindezeleka ngezindlela zokupumula noma ukwelashwa

Uma uhlangabezana nezimpawu eziphuthumayo njengokuhlungu kwekhanda okukhulu, ukushaya kwenhliziyo okusheshayo, noma izinguquko ezinkulu kokucindezeleka kwegazi, xhumana nodokotela wakho ngokushesha noma ufunani ukunakekelwa okuphuthumayo.

Cabanga ukujoyina amaqembu wokusekela abantu abane-MEN-2 noma izimo ezifanayo. Ukuhlangana nabanye abantu abaqonda isipiliyoni sakho kungakunika ukwesekwa ngokomzwelo okuyigugu nezeluleko eziwusizo zokuphatha kwansuku zonke.

Kufanele ulungiselele kanjani i-appointment yakho nodokotela?

Ukulungiselela i-appointment yakho kusiza ukuqinisekisa ukuthi uthola okuningi ngesikhathi sakho neqembu lakho lokunakekelwa kwezempilo. Letha uhlu oluphelele lwezimpawu zakho, kuhlanganise nokuthi zaqala nini nokuthi yini ezenza zibe ngcono noma zimbi.

Butha umlando wezokwelapha womndeni wakho, ikakhulukazi ulwazi mayelana nanoma yimiphi izihlobo ezine-thyroid cancer, i-pheochromocytomas, noma ezinye izisu ezihlobene nama-hormone. Lolu lwazi lubalulekile ekuqondeni ingozi yakho nokuhlela ukunakekelwa kwakho.

Yenza uhlu lokulungiselela oluphelele:

• Bala yonke imithi yamanje kanye nezinye izinto
• Bhala izimpawu zakho ngezinsuku nobunzima
• Butha ulwazi lomlando wezokwelapha womndeni
• Lungiselela imibuzo mayelana nokuhlolwa kwezofuzo noma izinketho zokwelapha
• Letha imiphumela yokuhlolwa yangaphambili kanye nemibhalo yezokwelapha
• Cabanga ukuletha ilungu lomndeni lokusekela
• Bhala izinkathazo zakho eziyinhloko nemigomo yokwelapha

Ungangabazi ukubuza imibuzo mayelana nanoma yini ongayiqondi. Iqembu lakho lokunakekelwa kwezempilo lifuna ukukusiza wenze izinqumo ezilwemi mayelana nokunakekelwa kwakho.

Uma ucabanga ngokuhlolwa kwezofuzo noma ukuhlinzwa okuvimbelayo, lungiselela imibuzo mayelana nezinzuzo, izingozi, nezinye izinketho. Ukuqonda izinketho zakho ngokuphelele kukusiza wenze izinqumo ezinhle kakhulu zesimo sakho.

Iyini into ebalulekile mayelana ne-MEN-2?

I-MEN-2 iyisimo sezofuzo esinzima kodwa esilawuleka esithinta amagciwane akho akhiqiza ama-hormone. Nakuba ukuxilongwa kungase kuzwakale kukhulu, intuthuko ekufuneni izofuzo nokuphatheni iye yathuthukisa kakhulu imiphumela kubantu abalona lesi simo.

Into ebaluleke kakhulu okumele uyikhumbule ukuthi ukutholakala kwangaphambi kwesikhathi nokuphatha okuqalisayo kungavimbela izinhlanganisela eziningi ezinkulu ezihlobene ne-MEN-2. Ukuhlolwa kwezofuzo kuvumela izinyathelo zokuvimbela ezingasusa ingozi yomdlavuza ngokuphelele ezimweni eziningi.

Uma unemlando womndeni we-MEN-2 noma izimo ezihlobene nazo, ungalindi izimpawu ukuthi zithuthuke. Ukwelulekwa kwezofuzo nokuhlolwa kungakunika ulwazi oluyigugu oluqondisa izinqumo zakho zezokwelapha futhi kungenzeka lusindise impilo yakho.

Ukusebenzisana eduze neqembu lokunakekelwa kwezempilo eliqeqeshwe ekwelapheni i-MEN-2 kukunika ithuba elihle kakhulu lemiphumela emihle yesikhathi eside. Ngokunakekelwa okufanele, abantu abaningi abane-MEN-2 baphila impilo evamile, enempilo.

Imibuzo evamile ebuzwa mayelana ne-MEN-2

Ingaphiliswa yini i-MEN-2?

Nakuba i-MEN-2 ngokwayo ingaphiliswa ngoba iyisimo sezofuzo, umdlavuza nezisu eziyibangela ngokuvamile zingavimbeka noma ziphathwe kahle. Ukuhlinzwa okuvimbelayo kungasusa ingozi yokuthuthukisa umdlavuza othile ngokuphelele. Ngokuqapha nokuphatha okufanele, abantu abaningi abane-MEN-2 baphila isikhathi eside ngaphandle kwezinkinga ezinkulu zezempilo.

Ukuhlolwa kwezofuzo kufanele kwenziwe nini ekuqaleni?

Ukuhlolwa kwezofuzo lwe-MEN-2 kungenziwa kunoma yiliphi isikhathi, kuhlanganise nasezinganeni ezintsha uma kunomlando womndeni owaziwayo. Noma kunjalo, isikhathi sokuhlolwa ngokuvamile sixhomeke ezimweni zomndeni nokuguqulwa kwezofuzo okuhilelekile. Eminye imindeni ikhetha ukuhlola izingane ekuqaleni ukuze ivumele ukuqapha okuhle kakhulu nokunakekelwa okuvimbelayo, kuyilapho abanye bekhetha ukulinda kuze kube yilapho ingane ingase ihlanganyele esinqumweni.

Kwenzekani uma ngitholakala ngine-MEN-2?

Ukutholakala une-MEN-2 gene mutation kusho ukuthi cishe uzoluthuthukisa lesi simo ngesinye isikhathi, kodwa akusho ukuthi une-cancer njengamanje. Iqembu lakho lokunakekelwa kwezempilo lizokwakha uhlelo lokuqapha nokuphatha oluqondene nawe, oluhlanganisa ukuhlolwa kwegazi okuvamile, izifundo zokufakwa kwezithombe, futhi kungenzeka nokuhlinzwa okuvimbelayo. Ukutholakala kwangaphambi kwesikhathi kuvumela izinketho zokwelapha ezisebenza kakhulu.

Ngingaba nabantwana yini uma ngine-MEN-2?

Yebo, abantu abane-MEN-2 bangaba nabantwana, kodwa kukhona izinto ezibalulekile okufanele uzixoxe neqembu lakho lokunakekelwa kwezempilo. Ingane ngayinye ine-50% yethuba lokudluliselwa ukuguqulwa kwezofuzo. Ukwelulekwa kwezofuzo kungakusiza uqonde izingozi nezinketho, kuhlanganise nokuhlolwa kwangaphambi kokuzalwa nokuxilongwa kwezofuzo kwangaphambi kokufakwa kweselula kulabo abasebenzisa ubuchwepheshe bokubuyiselwa kokuzala.

Kufanele ngibe ne-appointment yokulandelela kangaki?

Ukuvamile kokulandelela kuxhomeke esimweni sakho esithile, kuhlanganise nohlobo lokuguqulwa kwezofuzo zakho, ubudala, nokuthi usuvele uthole ukuhlinzwa okuvimbelayo. Ngokuvamile, abantu abane-MEN-2 badinga ukuqapha okuvamile kunabantu abavamile, ngokuvamile kuhlanganisa ukuhlolwa kwegazi minyaka yonke noma ngonyaka, nezifundo zokufakwa kwezithombe ezivamile. Iqembu lakho lokunakekelwa kwezempilo lizokwakha uhlelo lokuqapha oluqondene nawe olusekelwe ezingozini zakho zomuntu siqu.