Ngaba wakha weva ngembali yosapho lwakhe yomhlaza? Okanye umntu oselula ofumana umhlaza odla ngokuchaphazela abantu abadala? Ngamanye amaxesha kunokubakho isizathu esingasemva kwezi zinto esingazaziyo. Yiloo nto siza kuthetha ngayo namhlanje, imeko engaqhelekanga yemfuza eyenzeka kwiintsapho kwaye inyusa kakhulu umngcipheko womhlaza. Ibizwa ngokuba yiLi-Fraumeni Syndrome.
Ngamafutshane, yintoni iLi-Fraumeni Syndrome?
Le yimeko engaqhelekanga kakhulu yemfuza. Ibangelwa kukuguquka kwenye yemfuza emzimbeni wethu. Olu tshintsho lwemfuza luyandisa kakhulu amathuba okanye umngcipheko wokuba wena nosapho lwakho nibe nohlobo olunye okanye ngaphezulu lomhlaza.
Khawucinge ngoku: Umntu onesi sifo unethuba elingama-90% lokufumana umhlaza xa eneminyaka engama-60 ubudala. Kwaye, malunga nesiqingatha saba bantu baba nomhlaza ngaphambi kokuba bafikelele kwiminyaka engama-40 ubudala. Ngokukodwa, abafazi abaneLi-Fraumeni Syndrome banethuba eliphantse libe yi-100% lokufumana umhlaza webele ebomini babo.
Oku kusenokuvakala kuyoyikisa kancinci. Kodwa into ebalulekileyo kukuba nangona singenakuthintela le meko, ngokufumana uhlolo lomhlaza kwangethuba nangokufumana unyango olufunekayo , sinokuyinciphisa kakhulu impembelelo enayo ebomini bethu.
Ixhaphake kangakanani le meko?
I-Li-Fraumeni Syndrome yimeko engaqhelekanga kakhulu. Abaphandi bafumanise iintsapho ezimalunga ne-1,000 kwihlabathi liphela ezine-genetic change. Ngoko ke akukho mfuneko yokuyoyika ngokungeyomfuneko.
Zithini iimpawu zeLi-Fraumeni Syndrome?
Into ekhethekileyo apha kukuba akukho zimpawu zithile ezinxulumene nale meko ibizwa ngokuba yiLi-Fraumeni Syndrome. Oko kukuthi, umntu onesi sifo akaboni naluphi na utshintsho ngaphandle.
Ngoko ke, uyibona njani le nto? Uphawu oluphambili lwale meko kukuvela kweentlobo ezithile zomhlaza usemncinci . Ke ngoko, iimpawu ozifumanayo ziya kuxhomekeka kuhlobo lomhlaza onalo. Umzekelo, umhlaza wobuchopho uya kubonisa iimpawu ezinxulumene noko, kwaye umhlaza webele uya kubonisa iimpawu ezinxulumene noko.
Zeziphi iintlobo zomhlaza ezidla ngokunxulunyaniswa nale meko?
Iintlobo ezingaphezu kweshumi zomhlaza zidibene neLi-Fraumeni Syndrome. Eminye imidla ixhaphake kakhulu kubantu abanesifo kangangokuba ibizwa ngokuba yi-"core cancers". Makhe sijonge ukuba yintoni na.
| Udidi lomhlaza | Inkcazo |
|---|---|
| Umhlaza oyintloko | |
| IiSarcomas | Umhlaza owenzeka emathanjeni (i-Osteosarcoma) nakwizicubu ezithambileyo (i-Soft Tissue Sarcoma). |
| Umhlaza webele | Abafazi abanale meko basengozini yokuba nayo ubomi babo bonke, phantse ibe yi-100%. |
| Umhlaza woBuchongo | Oku kuquka iintlobo ezahlukeneyo ezifana neeGliomas, iChoroid Plexus Carcinoma, kunye neMedulloblastoma. |
| I-Adrenocortical Carcinoma | Umhlaza okhula kumaleko angaphandle e-adrenal glands, akwindawo engaphezulu kwezintso zethu. |
| I-Leukemia | Oku kuquka i-acute leukemia, umhlaza weeseli zegazi. |
| Eminye imihlaza enganxulunyaniswanga rhoqo | |
| Umhlaza wamathumbu amakhulu, umhlaza wezintso, iLymphoma, umhlaza wemiphunga, umhlaza wesibeleko, umhlaza wepancreatic, umhlaza weprostate, umhlaza wolusu, umhlaza wesisu, umhlaza wamasende, umhlaza we-thyroid. | |
Kutheni le meko isenzeka?
Ukuze siqonde ukuba kutheni oku kunjalo, kufuneka sazi nge-guard encinci emzimbeni wethu. Sine -gene ebizwa ngokuba yi-TP53 . Ifana "nengelosi yomlindi" emzimbeni wethu. Umsebenzi ophambili wale gene kukuthintela iiseli emzimbeni wethu ukuba zingakhuli ngendlela engaqhelekanga kwaye zingalawulekiyo zize zibe zii-tumor.
Iproteni eyenziwe yile gene ye-TP53 ibizwa ngokuba yiproteni ye-P53. Yile nto kanye eyenza loo msebenzi wokukhusela.
Ngoku, okwenzekayo kumntu one-Li-Fraumeni Syndrome kukuba kukho utshintsho, okanye utshintsho, kwi-protective gene ebizwa ngokuba yi-TP53 . Okwenzekayo kukuba i-gene ayikwazi ukuvelisa i-P53 protein esebenza kakuhle. Xa le gene ikhuselayo ilahlekile, iiseli ziqala ukwahlukana ngokungalawulekiyo. Yiyo loo nto ikhula ibe ngumhlaza.
Amaxesha amaninzi, umntwana uyifumana njengelifa le gene ye-TP53 enesiphene kubazali bakhe. Oku kubizwa ngokuba yi- Autosomal Dominant Pattern . Ngamafutshane, nokuba ngumzali omnye kuphela oyifumana njengelifa le gene enesiphene, nokuba ngumama okanye ngutata, umntwana usenokufumana le meko kwaye abe nomngcipheko omkhulu womhlaza .
Nangona kunjalo, kunqabile kakhulu ukuba olu tshintsho lwemfuza lwenzeke emzimbeni womntu ngaphandle kokuba nabani na kusapho abe nale meko. Oku kubizwa ngokuba yiDe Novo Mutation.
Ifunyaniswa njani le meko?
Oogqirha basebenzisa uvavanyo lwemfuza ukuze bafumanise imeko. Kodwa ngaphambi kokuba benze njalo, baza kujonga ngokucokisekileyo imbali yakho neyentsapho yakho yezonyango. Kukho izizathu ezahlukeneyo zokuba ugqirha angayikrokrela iLi-Fraumeni Syndrome:
- Ukuba ufunyenwe unomhlaza we-sarcoma ngaphambi kokuba ufikelele kwiminyaka engama-45 ubudala.
- Ukuba omnye wezalamane zakho ezikwinqanaba lokuqala (abazali, abantakwenu, abantwana) ufunyaniswe enomhlaza ngaphambi kokuba afikelele kwiminyaka engama-45 ubudala.
- Ukuba kukho izalamane zakho zenqanaba lesibini (ootatomkhulu noomakhulu, oomalume, oomalume, oobhuti, oodadewabo) abaye bafunyaniswa benomhlaza ngaphambi kokuba bafikelele kwiminyaka engama-45 ubudala.
Ukuba enye okanye ezingaphezulu kwezi mpawu ziyafezekiswa, ugqirha unokukuthumela kuvavanyo lwemfuza.
Ukuba ufunyaniswe unale meko, into elandelayo ebalulekileyo kukusebenza kwishedyuli yokuhlolwa komhlaza. Ngokubona ugqirha wakho rhoqo nokuvavanywa, nawuphi na umhlaza oqalayo unokufunyaniswa kwaye unyangwe kwasekuqaleni .
Iphathwa njani?
Akukho nyango luthile lwesifo semfuza i-Li-Fraumeni Syndrome. Oogqirha banyanga umhlaza obangelwa sesi sifo. Unyango lufana kakhulu nolo lunikwa umntu ongenaso esi sifo. Olu hlobo luquka utyando kunye ne-chemotherapy.
Kodwa kukho into ebaluleke kakhulu apha.
Abantu abane-Li-Fraumeni Syndrome babuthathaka kakhulu kwimitha. Ngenxa yoko, kukho umngcipheko wokukhula komhlaza omtsha ngonyango lwemitha. Ngenxa yesi sizathu, ugqirha wakho uya kuzama ukuphepha okanye ukunciphisa unyango lwemitha ukuba unesifo somhlaza.
Yintoni omele uyilindele xa uphila nale meko?
Ukwazi ukuba une-Li-Fraumeni Syndrome kuthetha ukuba wena nosapho lwakho kufuneka nisebenzele ishedyuli yokuhlolwa komhlaza rhoqo. Uphando lubonise ukuba ukuhlolwa rhoqo kwandisa kakhulu amathuba okusindisa ubomi kwaba bantu .
Ezi shedyuli zovavanyo zahlukile kubantwana nakubantu abadala. Oku kulandelayo ngumzekelo nje. Ugqirha wakho uza kudala ishedyuli efanelekileyo kuwe.
| Iqela leminyaka | Isithuba sexesha | Uvavanyo oluza kwenziwa |
|---|---|---|
| Kubantwana (ukuya kuthi ga kwiminyaka eli-18 ubudala) | ||
| Ukuya kuthi ga kwiminyaka eli-18 ubudala | Rhoqo emva kweenyanga ezi-3-4 | Uvavanyo olupheleleyo lomzimba kunye ne-ultrasound yesisu. |
| Kanye ngonyaka | Iskeni ye-MRI yobuchopho kunye neskeni ye-MRI yomzimba wonke. | |
| Kwabantu abadala | ||
| Abantu abadala | Rhoqo kwiinyanga ezi-6 | Ugqirha makakuhlole amabele (ukususela kwiminyaka engama-20 ukuya kwengama-25 ubudala). |
| Kanye ngonyaka | Uvavanyo lomzimba, i-MRI yamabele, i-MRI yengqondo nomzimba wonke, iskeni ye-ultrasound yesisu kunye ne-pelvic, uvavanyo olupheleleyo lolusu lomhlaza wolusu. | |
| Rhoqo emva kweminyaka emi-2-3 | Uvavanyo lweColonoscopy kunye ne-Upper Endoscopy. | |
Ngaba le meko ayinakuthintelwa?
Akukho ndlela yokuthintela imeko yemfuza i-Li-Fraumeni Syndrome. Yinto eza nemfuza zethu. Kodwa ungaziphepha izinto ezinyusa umngcipheko wakho wokuba nomhlaza.
- Kuphephe ukutshaya ngokupheleleyo.
- Kuphephe ukusela utywala kakhulu .
- Xa uphuma elangeni, musa ukuhlala ngaphandle ixesha elide ungenazo izikhuseli ezifana ne-sunscreen .
Abanye abafazi basuswa amabele omabini ngotyando ngaphambi kokuba umhlaza uvele ukuze kuncitshiswe umngcipheko wokuba nomhlaza wamabele. Oku kubizwa ngokuba yi -prophylactic mastectomy .
Nangona kukho zonke ezi ndlela zokuzikhusela, umntu onesi sifo usenokuba nomhlaza. Yiyo loo nto eyona nto ingcono kukufumana uhlolo rhoqo kwaye ubambe umhlaza kwangethuba ukuba uyenzeka.
Uzinyamekela njani wena nosapho lwakho?
Ukuphila ubomi bonke unengxaki efana nale kunokuba nzima ngokwasemzimbeni nangokwengqondo.
1. Ungaphoswa kukuhlolwa: Landela ishedyuli yakho yokuhlolwa komhlaza ecetyiswayo ngokuchanekileyo.
2. Ucwangciso-ntsapho: Ukuba uceba ukuba nabantwana, kubaluleke kakhulu ukuthetha nomcebisi wezemfuza. Kufuneka uqonde umngcipheko wokudlulisela esi sifuzo sinesiphene emntwaneni.
3. Impilo yengqondo: Musa ukuthwala lo mthwalo wedwa. Funa uncedo kumcebisi wezempilo yengqondo onamava okusebenza nezigulane ezinomhlaza okanye abo banezifo ezingapheliyo. Buza ugqirha wakho ngamaqela enkxaso afana nala.
Ukuba ubona naluphi na utshintsho olungaqhelekanga emzimbeni wakho, olufana nentlungu okanye iqhuma, musa ukulibazisa, ucinge, "Oku kumele ukuba kuqhelekile." Musa ukulinda de kube luvavanyo lwakho olulandelayo, kodwa bona ugqirha wakho ngoko nangoko .
Umyalezo Wokuya Ekhaya
- I-Li-Fraumeni Syndrome yimeko engaqhelekanga, ezuzwe njengelifa, eyonyusa kakhulu umngcipheko womhlaza.
- Akukho zimpawu ezinxulumene nale meko ngokwayo. Iimpawu zibangelwa ngumhlaza obangelwa yiyo.
- Nangona le meko ingenakuthintelwa, ukuxilongwa rhoqo nangokwangethuba komhlaza kwandisa kakhulu amathuba okusindisa ubomi.
- Ukuba unale meko, kubalulekile ukuba ungayisebenzisi imitha. Ugqirha wakho usenokuba uyazi ngale nto.
- Ekubeni oku kukufuzwa ngemfuza, kubalulekile ukufuna iingcebiso zonyango malunga nokuthumela amanye amalungu osapho ukuze aye kuvavanywa ngemfuza.
- Njengempilo yomzimba, impilo yengqondo nayo ibaluleke kakhulu ngeli xesha lohambo. Musa ukuthandabuza ukufuna uncedo ukuba uyalufuna.
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