Iyini i-Von Hippel-Lindau Syndrome (VHL)? Ake sixoxe ngayo kalula.

Wake wezwa nge- Von Hippel-Lindau Syndrome? Cishe awukaze wezwa. Kungase kuzwakale kuyinkimbinkimbi kancane, kodwa kuyisimo esingavamile kakhulu sezakhi zofuzo. Kalula nje, ukuguquka kwezakhi zofuzo okuthiwa i-VHL kubangela ukwakheka kwamathumba kanye nama-cyst agcwele uketshezi ezingxenyeni ezahlukene zomzimba. Ungakhathazeki uma uzwa lokhu. Ake sixoxe ngakho ngokucacile nangokulula.

Iyini ngempela i-VHL syndrome?

I-VHL yisimo esibangelwa ushintsho ezizakhini zethu zofuzo. Lokhu kungabangela izingxenye ezahlukene zomzimba wakho, isibonelo,

• Amehlo
• Ubuchopho
• Umhlonzo
• Indlebe yangaphakathi
• Izindlala ze-adrenal
• I-Pancreas
• Izinso
• Izitho zokuzala

Amathumba angakheka ezindaweni ezifana...

Ingxenye engcono kakhulu ukuthi iningi lalezi zimila azinabungozi . Lokho kusho ukuthi azinawo umdlavuza. Kodwa-ke, umuntu onalesi simo usengozini enkulu yokuba nomdlavuza wezinso kanye ne-pancreatic kunabanye. Yingakho kubalulekile ukuqaphela lokhu.

Kungani lesi sifo se-VHL senzeka?

Ngokuvamile, i-VHL gene emzimbeni wethu ilawula ukukhula kwezimila ngokuvimbela amaseli ukuthi angahlukani ngokungalawuleki. Kufana nomlindi emzimbeni wethu. Kodwa kumuntu onesifo se-VHL, le gene iyashintsha noma ishintshwe. Ngemuva kwalokho umsebenzi walowo mlindi awusebenzi kahle. Ngenxa yalokho, amaseli angajwayelekile akhula ngaphandle kokulawulwa futhi aqale ukwakha izimila.

Kunezindlela ezimbili eziyinhloko lesi simo esingase senzeke ngazo:

1. Ifa elivela kubazali: Cishe abantu abangu-8 kwabayi-10 abane-VHL balizuza njengefa kunina noma kuyise. Lizuzwa njengefa ngendlela elawulwa yi-autosomal , okusho ukuthi uma umzali oyedwa enalesi simo, ingane ngayinye inethuba elingu-50% lokulizuza njengefa.

2. Ukwenzeka okungahleliwe: Ezimweni ezingaba ngu-2 kwezingu-10, lokhu akuyona into ezuzwe njengefa kubazali. Lesi simo singabangelwa ushintsho olungahleliwe ezakhiweni zofuzo (ukuguquka okuzenzakalelayo ) ngesikhathi sokuqala kokukhula njengombungu.

Ziyini izimpawu ze-VHL?

Izimpawu ze-VHL zingahluka kakhulu kumuntu nomuntu. Lokhu kungenxa yokuthi izimpawu zincike ekutheni isimila sikuphi emzimbeni wakho. Abanye abantu bangahlala iminyaka bengenazo izimpawu.

Nakuba izimpawu zivame ukuqala cishe eminyakeni engama-26, abanye abantu bangase bangabi nezimpawu ezinkulu kuze kube yilapho beneminyaka engama-65. Ubudala lapho izimpawu ziqala khona buyahlukahluka kuye ngohlobo lwesimila. Isibonelo:

• Izimila zamehlo (i-retinal hemangioblastomas): iminyaka engu-12-25 ubudala
• Izimila zemithambo yegazi ebuchosheni noma emgogodleni (hemangioblastomas): iminyaka engu-18-35 ubudala
• Izimila zezinso noma umdlavuza (iseli lezinso): phakathi kweminyaka engama-25-50 ubudala
• Izimila zendlebe yangaphakathi (izimila ze-endolymphatic sac): phakathi kweminyaka engama-24-35 ubudala

Itholakala kanjani i-VHL?

Uma othile emndenini wakho enalesi simo, noma uma izimpawu zakho zenza udokotela wakho asole ukuthi une-VHL, uzokudlulisela ukuze uyohlolwa ngofuzo . Lokhu kwenziwa ngesampula yegazi. Lena yindlela kuphela yokwazi ngokuqinisekile uma kukhona ushintsho ku-VHL gene.

Izimo ezivamile lapho udokotela angase asole khona ukuthi une-VHL zifaka:

• Ukuthola isimila samehlo (i-hemangioblastoma yeso) esemncane.
• Umdlavuza wezinso ngaphambi kweminyaka engama-40.
• Ukuba nezimila eziningi (i-hemangioblastomas) ebuchosheni noma emgogodleni.
• Ukuba nezimila eziningi noma ama-cyst ezinso noma kuma-pancreas.

Uma kutholakale ukuthi une-VHL, isinyathelo esilandelayo esibaluleke kakhulu ukuqapha okusebenzayo.

Kuyini Ukuqapha Okusebenzayo?

Lokhu kungase kuzwakale njengento enkulu, kodwa ngamafuphi, kusho ukuthi noma ungenazo izimpawu, ithimba lakho lezokwelapha lizokuqapha njalo. Lokhu kusho ukuthi uma kuvela isimila esisha noma esidala sikhula, singatholakala ngokushesha okukhulu futhi ukwelashwa okudingekayo kungaqalwa. Lena yinhliziyo yokuphathwa kwe-VHL.

Lezi zivivinyo ziyahlukahluka kuye ngeminyaka yakho.

• Kusukela usencane (oneminyaka engu-1-4): Hlola amehlo akho ngudokotela wamehlo njalo ezinyangeni ezi-6 kuya kwezingu-12. Ngemva kweminyaka emi-2, hlola umfutho wegazi lakho njalo ngonyaka.
• Ubuntwana (iminyaka emi-5-10): Ukuhlolwa kwamehlo kuyaqhubeka. Futhi, kwenziwa ukuhlolwa komchamo noma kwegazi (i-metanephrines) ukuhlola izimila ze-adrenal gland (i-pheochromocytomas).
• Ubusha (kusukela eminyakeni eyi-11): Njalo eminyakeni embalwa, kwenziwa i-MRI scan ukuze kubhekwe ubuchopho kanye nomgogodla. Ukuzwa nakho kuyahlolwa.
• Ubudala (kusukela eminyakeni eyi-15 ubudala): Ukuhlolwa kwesisu nge-MRI kwenziwa njalo eminyakeni emibili ukuhlola izinso, ama-pancreas, kanye nezindlala ze-adrenal.

Udokotela wakho uzokwenza lolu hlelo luhambelane nawe.

Yiziphi izindlela zokwelapha i-VHL?

Ukwelashwa kwe-VHL kuncike ohlotsheni, usayizi, kanye nendawo yesimila. Uma isimila singesona umdlavuza, sincane, futhi singenabungozi, ukubonwa kungase kwanele ngaphandle kokwelashwa.

Kunezindlela eziningana zokwelapha eziyinhloko:

1. Imithi: Umuthi osanda kwethulwa i-belzutifan (Welireg) ube nempumelelo enkulu ekunciphiseni nasekumiseni ukusabalala kwezinhlobo eziningana zezimila ezihlobene ne-VHL (umdlavuza wezinso, i-hemangioblastomas).

2. Ukuhlinzwa: Ukwelashwa okuvame kakhulu kwe-VHL ukuhlinzwa. Ama-cyst abangela izimpawu, akhulayo, noma abonisa izimpawu zomdlavuza asuswa ngokuhlinzwa.

3. Ukwelashwa ngemisebe: Ukusetshenziswa kwemisebe enamandla amakhulu ukubhubhisa izimila. Lokhu kusetshenziswa ikakhulukazi kwezinye izimila ezenzeka ebuchosheni nasendlebeni.

4. Ezinye izindlela zokwelapha: Kunezindlela zokwelapha zesimanje zomdlavuza wezinso njenge- Ablation (ukubhubhisa isimila kusetshenziswa ukushisa okukhulu noma ukubanda okukhulu) kanye ne-Immunotherapy .

Ithimba lakho lezokwelapha lizonquma ukuthi yikuphi ukwelashwa okungcono kakhulu kuwe.

Ukuphila ne-VHL kanye nenhlalakahle yengqondo

Kuvamile ukuzizwa wesaba, ukhathazekile, futhi udidekile uma uthola ukuthi unesifo esingavamile njenge-VHL. Ukucindezeleka ("scanxiety") kuphezulu kakhulu uma ulungiselela ukuskenwa futhi ulinde imiphumela.

Kunezinto eziningana ongazenza ukuze uphile impilo enempilo nejabulisayo ngalesi simo:

• Ukudla okunempilo: Yidla ukudla okulinganiselayo okunemifino eminingi, izithelo, inyama engenamafutha amaningi kanye namaprotheni afana nenhlanzi. Gwema ukubhema ngokuphelele.
• Ukuzivocavoca: Ukuzivocavoca okulula njengokuhamba nsuku zonke kunganciphisa ukucindezeleka futhi kugcine umzimba wakho uphilile.
• Ukuphumula kwengqondo: Yenza izinto ezifana ne-yoga, ukuzindla, njll. Zinike isikhathi sezinto ezikulethela ukuthula kwengqondo (njengokufunda incwadi enhle, ukulalela ingoma).
• Cela usizo: Khuluma nomndeni wakho nabangane abaseduze ngalokhu. Yabelana ngemizwa yakho. Uma udinga usizo (ukubona udokotela, usizo ngomsebenzi wesikole), ungesabi ukusho kanjalo.
• Themba ithimba lakho lezokwelapha: Buza udokotela wakho noma yimiphi imibuzo noma ukukhathazeka onakho. Kuwusizo futhi ukugcina incwadi yezimpawu zakho nemiphumela yokuhlolwa.