Yintoni i-Von Hippel-Lindau Syndrome (VHL)? Makhe sithethe ngayo ngokulula.

Ngaba wakha weva nge- Von Hippel-Lindau Syndrome? Mhlawumbi awukaze uve ngayo. Isenokuvakala inzima kancinci, kodwa yimeko engaqhelekanga yemfuza. Ngamafutshane, utshintsho kwi-gene ebizwa ngokuba yi-VHL lubangela ukuba ii-tumor kunye ne-cysts ezizaliswe lulwelo zenzeke kwiindawo ezahlukeneyo zomzimba. Musa ukoyika xa usiva oku. Masithethe ngayo ngokucacileyo nangokulula.

Yintoni kanye kanye i-VHL syndrome?

I-VHL yimeko ebangelwa kukutshintsha kwezakhi zofuzo zethu. Oku kunokubangela iindawo ezahlukeneyo zomzimba wakho, umzekelo,

• Amehlo
• Ingqondo
• Umqolo
• Indlebe yangaphakathi
• Iindlala ze-adrenal
• I-Pancreas
• Izintso
• Izitho zokuzala

Iithumba zinokuvela kwiindawo ezifana...

Eyona nto ingcono kukuba uninzi lwale mikhuhlane ayinobungozi . Oko kuthetha ukuba ayinayo umhlaza. Nangona kunjalo, umntu onesi sifo usengozini enkulu yokuba nomhlaza wezintso kunye nepancreas kunabanye. Yiyo loo nto kubalulekile ukuba uqaphele oku.

Kutheni le nto le VHL syndrome isenzeka?

Ngokwesiqhelo, i-VHL gene emzimbeni wethu ilawula ukukhula kweethumba ngokuthintela iiseli ukuba zingahlukani ngokungalawulekiyo. Kufana nomlindi emzimbeni wethu. Kodwa kumntu one-VHL syndrome, le gene iyatshintsha okanye itshintshe. Emva koko umsebenzi waloo mlindi awusebenzi kakuhle. Ngenxa yoko, iiseli ezingaqhelekanga ziyakhula zingalawuleki kwaye ziqale ukwenza iithumba.

Kukho iindlela ezimbini eziphambili ezinokwenzeka ngayo le meko:

1. Ilifa elivela kubazali: Malunga nabantu abasi-8 kwabali-10 abane-VHL balizuza njengelifa kumama okanye kutata wabo. Lizuzwa njengelifa kwi -autosomal dominant pattern, oko kuthetha ukuba ukuba omnye umzali unale meko, ngamnye kubantwana bakhe unethuba elingama-50% lokulizuza njengelifa.

2. Ukwenzeka okungacwangciswanga: Kwiimeko ezimalunga nezimbini kwezilishumi, oku akuyonto izuzwe ngabazali. Le meko inokwenzeka ngenxa yotshintsho olungaqhelekanga kwiijini (ukuguqulwa okuzenzekelayo ) ngexesha lokukhula njengemveku.

Zithini iimpawu ze-VHL?

Iimpawu ze-VHL zinokwahluka kakhulu kumntu nomntu. Oku kungenxa yokuba iimpawu zixhomekeke ekubeni ithumba likuphi emzimbeni wakho. Abanye abantu banokuhlala iminyaka bengenazo iimpawu.

Nangona iimpawu zihlala ziqala xa zimalunga neminyaka engama-26 ubudala, abanye abantu basenokungabi nazo iimpawu ezinkulu de babe neminyaka engama-65 ubudala. Ubudala apho iimpawu ziqala khona buyahluka ngokuxhomekeke kuhlobo lwethumba. Umzekelo:

• Iithumba zamehlo (i-retinal hemangioblastomas): iminyaka eli-12-25 ubudala
• Iithumba zemithambo yegazi engqondweni okanye emgogodleni (hemangioblastomas): Uneminyaka eli-18-35 ubudala
• Iithumba zezintso okanye umhlaza (iiseli zezintso): phakathi kweminyaka engama-25-50 ubudala
• Iithumba zendlebe zangaphakathi (iithumba ze-endolymphatic sac): phakathi kweminyaka engama-24 ukuya kwengama-35 ubudala

Ifunyaniswa njani i-VHL?

Ukuba kukho umntu kusapho lwakho onayo le meko, okanye ukuba iimpawu zakho zenza ugqirha wakho acinge ukuba une-VHL, uza kukuthumela kuvavanyo lwemfuza . Oku kwenziwa ngesampulu yegazi. Le yindlela yokwazi ngokuqinisekileyo ukuba kukho utshintsho kwi-VHL gene.

Iimeko eziqhelekileyo apho ugqirha asenokukrokrela ukuba i-VHL inokuba nazo ziquka:

• Ukufumana ithumba elisesweni (i-hemangioblastoma yeliso) eselula.
• Umhlaza wezintso ngaphambi kokuba ufikelele kwiminyaka engama-40.
• Ukuba neethumba ezininzi (i-hemangioblastomas) engqondweni okanye emgogodleni.
• Ukuba neethumba ezininzi okanye ii-cysts kwizintso okanye kwi-pancreas.

Ukuba ufunyaniswe une-VHL, inyathelo elilandelayo elibalulekileyo kukujonga ngokusebenzayo.

Yintoni i-Active Monitoring?

Oku kusenokuvakala ngathi yinto enkulu, kodwa ngokulula, kuthetha ukuba nokuba awunazo iimpawu, iqela lakho lezonyango liza kukujonga rhoqo. Oku kuthetha ukuba ukuba kuvela ithumba elitsha okanye elidala likhula, linokufunyanwa ngokukhawuleza kwaye unyango olufunekayo lunokuqaliswa. Le yeyona nto iphambili kulawulo lwe-VHL.

Ezi mvavanyo ziyahluka ngokuxhomekeke kwiminyaka yakho.

• Ukususela ebuntwaneni (iminyaka eli-1-4): Jonga amehlo akho ngugqirha wamehlo rhoqo emva kweenyanga ezi-6 ukuya kwezili-12. Emva kweminyaka emi-2, jonga uxinzelelo lwegazi lwakho rhoqo ngonyaka.
• Ubuntwana (iminyaka emi-5-10): Uvavanyo lwamehlo luyaqhubeka. Kwakhona, uvavanyo lomchamo okanye lwegazi (i-metanephrines) lwenziwa ukujonga ii-tumors ze-adrenal gland (i-pheochromocytomas).
• Ukufikisa (ukususela kwiminyaka eli-11 ubudala): Rhoqo emva kweminyaka embalwa, kwenziwa i-MRI scan ukujonga ubuchopho kunye nomqolo. Kukwajongwa nokuva.
• Ubudala (ukususela kwiminyaka eli-15 ubudala): I-MRI scan yesisu yenziwa rhoqo emva kweminyaka emibini ukujonga izintso, i-pancreas, kunye ne-adrenal glands.

Ugqirha wakho uza kuyilungisa le shedyuli ukuze ihambelane nawe.

Ziziphi iindlela zonyango ze-VHL?

Unyango lwe-VHL luxhomekeke kuhlobo, ubungakanani, kunye nendawo yethumba. Ukuba ithumba alinamhlaza, lincinci, kwaye alinabungozi, ukujongwa kunokwanela ngaphandle konyango.

Kukho iindlela ezininzi eziphambili zonyango:

1. Amayeza: Iyeza elisandula ukungeniswa i -belzutifan (Welireg) libe nempumelelo enkulu ekunciphiseni nasekuthinteleni ukusasazeka kweethumba ezininzi ezinxulumene ne-VHL (umhlaza wezintso, i-hemangioblastomas).

2. Utyando: Olona nyango luqhelekileyo lwe-VHL lutyando. Amaqhuqhuva abangela iimpawu, akhulayo, okanye abonisa iimpawu zomhlaza ayasuswa ngotyando.

3. Unyango lwemitha: Ukusetyenziswa kwemitha enamandla aphezulu ukutshabalalisa iithumba. Oku kusetyenziswa ngakumbi kwezinye iithumba ezenzeka engqondweni nasendlebeni.

4. Ezinye iindlela zonyango: Kukho iindlela zanamhlanje zonyango lomhlaza wezintso ezifana ne -Ablation (ukutshabalalisa ithumba kusetyenziswa ubushushu obugqithisileyo okanye umkhuhlane ogqithisileyo) kunye ne -Immunotherapy .

Iqela lakho lezonyango liza kugqiba ukuba loluphi unyango olulungele wena.

Ukuphila ne-VHL kunye nempilo-ntle yengqondo

Kuqhelekile ukuziva usoyika, uxhalabile, kwaye udidekile xa ufumanisa ukuba unesifo esingaqhelekanga njenge-VHL. Uxinzelelo ("scanxiety") luphezulu kakhulu xa ulungiselela ukuskena kwaye ulinde iziphumo.

Kukho izinto ezininzi onokuzenza ukuze uphile ubomi obusempilweni nobonwabisayo xa unesi sifo:

• Ukutya okunempilo: Yitya ukutya okunesondlo kunye nemifuno emininzi, iziqhamo, inyama engenamafutha, kunye neeproteni ezifana neentlanzi. Kuphephe ukutshaya ngokupheleleyo.
• Ukuzilolonga: Ukuzilolonga okulula njengokuhamba yonke imihla kunokunciphisa uxinzelelo kwaye kugcine umzimba wakho usempilweni.
• Ukuphumla kwengqondo: Yenza izinto ezifana neyoga, ukucamngca, njl. Zinike ixesha lezinto ezikuzisela uxolo lwengqondo (njengokufunda incwadi elungileyo, ukumamela ingoma).
• Cela uncedo: Thetha nosapho lwakho kunye nabahlobo abasondeleyo ngale nto. Yabelana ngeemvakalelo zakho. Ukuba ufuna uncedo (ukubona ugqirha, uncedo ngomsebenzi wesikolo), ungoyiki ukutsho.
• Themba iqela lakho lezonyango: Buza ugqirha wakho nayiphi na imibuzo okanye izinto ezikuxhalabisayo. Kukwaluncedo nokugcina incwadi yeziganeko zakho kunye neziphumo zovavanyo.