Ingabe uthola la maqhubu angajwayelekile emzimbeni wakho? Ake sixoxe ngesifo se-von Hippel-Lindau (VHL).

Ungase uzibuze ukuthi kungani ngihlala ngithola amaqhubu angajwayelekile emzimbeni wami wonke, noma ukuthi kungani ezinye izifo zingapheli. Ngezinye izikhathi isizathu salokhu singaba yinkimbinkimbi kakhulu kunalokho esikucabangayo. Namuhla sizokhuluma ngesimo esingavamile kodwa esibaluleke kakhulu okufanele sisiqaphele. Leso yisifo sika-von Hippel-Lindau, noma sisibiza ngokuthi `(VHL)` ngamafuphi.

Kuyini u-von Hippel-Lindau (VHL)? Masikuqonde kalula.

Kulungile, manje cishe uyazibuza ukuthi iyini le `(VHL)`. Kalula nje, i-von Hippel-Lindau iyisimo esingavamile sofuzo. Senzeka lapho kukhona `(ukuguqulwa kofuzo)` noma ushintsho kwezinye zezakhi zofuzo emzimbeni wakho. Ngenxa yalokhu, kungenzeka kakhulu ukuthi ube nezimila `(ezimbi)`, kanye nezimila `(ezingembi)` kanye nama-cyst, ezingxenyeni ezahlukene zomzimba wakho. Odokotela ngezinye izikhathi babiza lesi simo ngokuthi `(von Hippel-Lindau syndrome`.

Ucwaningo luthole ukuthi abantu abangu-97% abanalolu shintsho lwezakhi zofuzo bazohlakulela lezi zimila ezihlobene ne-VHL kanye nezinye lapho beneminyaka engu-65. Ezimweni eziningi, ukwelashwa okuyinhloko kwezimila ezihlobene ne-VHL ukuhlinzwa ukuze kususwe izimila.

Yimiphi imidlavuza engahlotshaniswa nesifo se-VHL?

Uma unalesi simo `(VHL)`, usengozini enkulu yokuthola uhlobo olulodwa noma ngaphezulu lomdlavuza olulandelayo:

• I-Clear cell renal carcinoma (ccRCC): Lolu uhlobo oluvame kakhulu lomdlavuza wezinso. Ngokusho kochwepheshe, phakathi kuka-25% no-60% wabantu abane-VHL bangaba nalo mdlavuza. Khumbula, izinso zingenye yezitho ezibaluleke kakhulu emzimbeni wethu, ngakho-ke umdlavuza okuzo uyinto okufanele ukhathazeke kakhulu ngayo.
• Ama-tumor e-pancreatic neuroendocrine (ama-NET e-pancreatic): Lawa uhlobo olungavamile lwesimila oluqala kumaseli e-endocrine kuma-pancreas akho. Angakhula phakathi kuka-9% no-17% wabantu abane-VHL.
• I-Pheochromocytoma: Lesi isimila esingavamile kodwa esingelapheka esikhula endlaleni ye-adrenal. Lezi zimila zingase ziqale njengezimila ezingezona umdlavuza, kodwa kamuva zingaba umdlavuza. Zivela kubantu abayi-10% kuya kwabayi-20% abane-VHL.
• Ama-cystadenoma e-Broad ligament: Lesi simo sithinta abesifazane. Sivela cishe ku-10% wabesifazane abane-VHL. Kuyisimila esakheka eduze kwamapayipi e-fallopian.

Yiziphi izimila ezingezona ezomdlavuza ezihambisana ne-VHL?

Akuyona nje umdlavuza kuphela, kodwa futhi nezimila ezingezona umdlavuza, okungukuthi, izimila ezingasabalali kwezinye izingxenye zomzimba (i-metastasize), ezingavela uma i-VHL ikhona. Okubaluleke kakhulu kulezi yi- hemangioblastoma.Lezi yizimila ezingezona ezomdlavuza ezakha emithanjeni yegazi yobuchopho, umgogodla, noma i-retina. Nakuba zingasabalali, zingakhula zibe zinkulu futhi zithinte izicubu ezizungezile, okubangela izinkinga ezinkulu zempilo.

Izinhlobo ze-hemangioblastomas ezingabonakala zihlotshaniswa ne-`(VHL)` yilezi:

• I-hemangioblastoma ye-retinal: Lolu uhlobo lwesimila esikhula esweni. Lungaholela nasekulahlekelweni umbono. Ucwaningo lusikisela ukuthi sikhula kubantu abangu-60% abane-(VHL).
• I-Brain stem kanye ne-cerebellar hemangioblastomas: Lezi yizimila ebuchosheni. Zingathinta ibhalansi yakho futhi zibangele ezinye izinkinga. Zithinta abantu abaphakathi kuka-13% no-72% abane-VHL.
• I-hemangioblastoma yomgogodla: Lolu hlobo lwe-hemangioblastoma luvela phakathi kuka-13% no-50% wabantu abane-(VHL).

Ngaphezu kwalokho, uma une-VHL, usengozini yokuthola izimila kanye nama-cyst angewona umdlavuza njenge:

• Ama-cystadenoma e-epididymal: Lawa amathumba athinta amadoda. Akhula ku-epididymis, isakhiwo esincane esifana nethubhu esigcina isidoda, eduze kwamasende. Avela phakathi kwama-25% nama-60% amadoda ane-VHL.
• Amathumba e-Endolymphatic sac (ELST): Lawa amathumba angavamile kakhulu. Uma une-VHL, angakhula endlebeni engaphakathi. Lesi simo sithinta abantu abaphakathi kuka-10% no-25% abane-VHL.
• Ama-Cysts: Lawa ama-cyst agcwele uketshezi. Abantu abane-VHL bangakha la ma-cyst ezinso nakuma-pancreas.

Sivame kangakanani isifo se-VHL?

Empeleni lesi yisimo esingavamile kakhulu. Sithinta cishe umuntu oyedwa kwabangu-36,000. Iningi labantu abane-VHL liqala ukukhombisa izimpawu lapho liseminyakeni yabo-20. Lokhu kusho ukuthi kufanele uqaphele ngalokhu usesemncane.

Ziyini izimpawu zesifo sika-von Hippel-Lindau?

Ngenxa yokuthi lesi simo singabangela ukuthi amathumba akheke emzimbeni wakho wonke, izimpawu zingahluka. Kuya ngokuthi amathumba akuphi kanye nobukhulu bamathumba. Ungase ube nezimpawu ezifana nalezi:

• Ubuhlungu bekhanda obuhlala bukhona.
• Ukulahlekelwa ukuzwa noma ukukhala okuqhubekayo ezindlebeni (i-tinnitus).
• Umfutho wegazi ophezulu.
• Ukulahlekelwa ibhalansi ngenkathi uhamba.
• Ukuncipha kwamandla emisipha noma ubunzima bokuxhumanisa ukunyakaza.
• Izinkinga zombono.
• Ukuhlanza.

Cabanga nje, besiyokhathazeka kangakanani uma besingaba nesinye noma ezimbili zalezi zimpawu? Ngakho-ke uma unezinye zalezi zimpawu ngesikhathi esisodwa, kubalulekile ngempela ukufuna iseluleko sezokwelapha.

Yini ebangela isifo se-VHL?

I-Von Hippel-Lindau syndrome iyisifo esizuzwe njengefa . Sivela uma uthola ikhophi engavamile yesakhi sofuzo esicindezela isimila esibizwa ngokuthi i-VHL komunye wabazali bakho.

Kalula nje, lawa "ma-gene okucindezela i-tumor" avimba amangqamuzana ukuthi angahlukani ngokushesha, okungaholela kumdlavuza. Kufana namabhuleki emotweni. Kodwa uma lawa ma-gene eguquguquka, kufana nokususa amabhuleki bese ufaka i-accelerator. Ukukhula kwamangqamuzana kusheshisa ngendlela engalawuleki.

Lesi sifo sidluliselwa ngendlela yefa eliyi-autosomal dominant. Lokhu kusho ukuthi uma omunye wabazali bakho ene-VHL gene engavamile, unethuba elingu-50% lokuyizuza njengefa futhi ube nesifo se-von Hippel-Lindau. Kodwa-ke, ucwaningo lukhombisile ukuthi cishe abantu abayi-10% abane-VHL abanawo umlando womndeni walesi sifo. Lokhu kusho ukuthi izinguquko ezintsha zofuzo nazo zingavela.

Isifo se-VHL sitholakala kanjani?

Odokotela bangase basole ukuthi une-VHL uma unezimpawu zesimo esibangelwa yi-VHL, njenge-hemangioblastoma noma i-clear cell renal carcinoma. Kodwa okuwukuphela kwendlela yokuqinisekisa lokhu ukuhlolwa kofuzo. Uma othile emndenini wakho enesifo se-Von Hippel-Lindau, kubalulekile ukubuza udokotela wakho mayelana nokuhlolwa kofuzo kwakho.

Yiziphi izindlela zokwelapha isifo se-VHL?

Izinketho zokwelapha ziyahlukahluka kuye ngohlobo lwesimila se-VHL noma i-cyst. Udokotela wakho uzochaza izinketho zokwelapha ezifanele wena. Izindlela zokwelapha ezivame kakhulu yilezi:

• Ukuhlinzwa ukuze kususwe isimila.
• Ukwelashwa ngamakhemikhali.
• Ukwelashwa ngemisebe.
• Ukwelashwa okuqondiwe kufaka phakathi izinto ezifana nokwelashwa nge-peptide receptor radionuclide (PPRT) kanye ne-tyrosine kinase inhibitors (TKI).
• Ukwelashwa nge-immunotherapy.
• Ukwelashwa ngama-hormone.

Into ebaluleke kakhulu ukuxilonga lesi sifo kusenesikhathi bese uqala ukwelashwa okufanele. Yilapho kuphela lapho ungathola khona imiphumela emihle kakhulu.

Ingabe isifo se-VHL singalapheka ngokuphelele?

Ngeshwa, okwamanje ayikho ikhambi lesifo sika-von Hippel-Lindau. Umgomo oyinhloko wokwelashwa ukuthola nokususa izimila ngokushesha okukhulu. Udokotela wakho angase akuncome ukuhlinzwa ukuze kususwe izimila kanye nezinye izindlela zokwelapha.

Uma ngine-VHL, yini okufanele ngiyilindele?

Uma unalesi simo, kuzodingeka ukuthi uhlolwe njalo ukuze uhlole izimpawu zezifo ezithile. Ukutholwa kusenesikhathi kanye nokwelashwa kwamathumba kungasiza ekunciphiseni umthelela wesifo sika-von Hippel-Lindau empilweni yakho. Yingakho kubalulekile ukuthola izivivinyo ezinconywa udokotela wakho.

Ingabe isifo se-VHL singavinjelwa?

Cha, akunakuvinjelwa. Lokhu kungenxa yokuthi isifo sika-von Hippel-Lindau sibangelwa ukuguquka kwezakhi zofuzo okudluliselwe kusuka komunye umzali kuya komunye. Uma othile emndenini wakho ene-VHL, ukuhlolwa kwezakhi zofuzo kungakusiza ukuthi uthole ukuthi nawe unayo yini i-mutation.

Nakuba ungeke ukwazi ukuvimbela isifo sika-von Hippel-Lindau, kuyasiza ukwazi ingozi yakho nokuqonda ukuthi i-`(VHL)` ingakuthinta kanjani. Uma wazi ukuthi usengozini, odokotela bangabheka izimpawu zezimila ezihlobene ne-`(VHL)` bese bethatha izinyathelo zokuzisusa kusenesikhathi.

Uma une-gene (VHL) futhi uhlela ukuba nomntwana, kuwumqondo omuhle ukuhlangana nomeluleki wezakhi zofuzo ukuze nixoxe ngengozi yokuthi ingane yakho izuze i-gene njengefa.

Ingabe kukhona ukuhlolwa okukhethekile kokuhlolwa kwezimo ezihlobene ne-VHL?

Azikho iziqondiso ezithile zokuhlolwa kwalokhu, njengoba zikhona nakwezinye izinhlobo zomdlavuza (njengokuhlolwa komdlavuza okunconywe yi-US Preventive Services Task Force). Kodwa-ke, uma ukuhlolwa kofuzo kuqinisekisa ukuthi une-VHL gene engavamile, ithimba lakho lezokunakekelwa kwempilo lingancoma ukuhlolwa okuthile ukusiza ekutholeni izinkinga kusenesikhathi. Isibonelo, bangase batuse ukuthi wenze i-abdominal magnetic resonance imaging scan (MRI) njalo eminyakeni emibili ukuhlola umdlavuza ohlobene ne-VHL, njenge-clear cell renal carcinoma.

Ngingazinakekela kanjani? Ngingenzani?

Ukuphila ne-VHL kusho ukuphila nokungaqiniseki okuthile. Uma uzuze ufuzo olubangela i-VHL, unethuba elingu-50% lokuthola lesi simo. Uma wenza kanjalo, unethuba elingu-97% lokuthola izinhlobo ezithile zomdlavuza nezinye izifo ezingathi sína.

Kodwa-ke, akekho ongabikezela ngqo ukuthi `(VHL)` izokuthinta kanjani impilo yakho. Nazi ezinye izinto ezingakusiza ukuthi ubhekane nalezi zinselele:

• Thola ukwesekwa kwezempilo yengqondo: Ucwaningo olulodwa lubonise ukuthi ukuxilongwa kwe-VHL kungaba nomthelela ongokwengqondo, njengokukhathazeka nokuhlaselwa uvalo. Ngakho-ke, kubaluleke kakhulu ukukhuluma nodokotela wezifo zengqondo noma umeluleki.
• Vikela impilo yakho iyonke: Yidla ukudla okulinganiselayo – inyama eningi engenamafutha amaningi, okusanhlamvu okuphelele, imifino enamaqabunga, nezithelo. Ukuzivocavoca umzimba (okunganciphisa nokucindezeleka). Buza ithimba lakho lezokwelapha ngemithi yokugoma efanele wena.

Kufanele ngifune nini iseluleko sezokwelapha?

Uma ubona izimpawu ezinjengalezi, kufanele ushayele udokotela wakho ucingo ngokushesha:

• Izinguquko ekuboneni noma ekuzweni kwakho.
• Ubuhlungu bekhanda obuhlala bukhona.
• Isicanucanu noma ukuhlanza okungacatshangwa ukuthi kubangelwe esinye isifo.
• Ukwanda okungazelelwe komfutho wegazi.
• Uma ngokuzumayo uba nobunzima bokuhamba, ukugcina ibhalansi, noma ukuhlanganisa ukunyakaza.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Ake sithi utshelwe ukuthi othile emndenini wakho unesifo se-von Hippel-Lindau. Uma kunjalo, nansi eminye imibuzo ongayibuza udokotela wakho:

• Ithini imiphumela yokuhlolwa kwami ​​​​kwezakhi zofuzo?
• Ingabe wonke umndeni wami kufanele uhlolwe izakhi zofuzo?
• Kufanele ngihlolwe kangaki ukuze ngithole izimpawu zokuqala zezimo ezingase zihlotshaniswe ne-`(VHL)`?

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Isifo i-Von Hippel-Lindau (VHL) siyisifo esingavamile esibangelwa izakhi zofuzo. Sithinta umuntu oyedwa kwabangu-36,000. Ngakho-ke, ukuthola ukuthi ungomunye walabo abangu-36,000, kungaba yinto eshaqisayo kakhulu, ikakhulukazi uma kungekho muntu emndenini wakho oke waba nalesi sifo ngaphambili.

Uma ukuhlolwa kofuzo kuqinisekisa ukuthi unayo (i-VHL), zinike isikhathi sokucubungula izindaba. Bese, zinike isikhathi sokuqonda ukuthi kusho ukuthini ukuxilongwa kwakho. Isibonelo, ungase ube nemibuzo mayelana nengozi yakho yokuthola izinhlobo ezahlukene zomdlavuza kanye nezimila, noma ukuthi ukuxilongwa kwakho kuzobathinta kanjani abanye emndenini wakho. Ungalokothi unqikaze ukubuza ithimba lakho lezokwelapha ngalokho ongakulindela. Futhi ungakhohlwa ukucela usizo lokuphatha ukucindezeleka okuhambisana nokuphila ne-VHL. Awuwedwa, futhi baningi abantu abangakusiza kulolu hambo.

` UVon Hippel-Lindau, VHL, isifo sofuzo, umdlavuza, izimila, izimpawu, ukwelashwa