Izifo ezingokwemvelo zivamile kakhulu emhlabeni jikelele. Njengamanje, le mbono iyaqaphela ukuthi umdlavuza unesici sezakhi zofuzo, futhi imbangela yaso ngokuvamile ivame ukuguquguquka kwezakhi zofuzo (ukulimala kweDNA) okubangela ukuphazanyiswa komsebenzi obalulekile weseli.
Izinguquko ezincane
Ngenhlanhla, iningi (kuze kufinyelele ku-70%) yalezi zinguquko ziyinkimbinkimbi, isb. kwenzeka esitokisini esisodwa somzimba. Amaseli ocansi (i-oocyte ne-spermatozoa) ayithinteki, okungekho engozini yokuthola umdlavuza. Imbangela yalezi zinguquko eziningi aziwazanga, kepha izimo zemvelo ezilimaza i-DNA yeseli, njengokubhema ugwayi, kuye kwabonakala. I-5-10% kuphela yezifo zomdlavuza zibhekwa njengezihloswe ngezifo. Lokhu kusho ukuthi ingozi yezifo ezinalezi zindlela zomdlavuza zingathola ifa. Yingumphumela wefa lokuguqulwa kwezinto okuthiwa izakhi zofuzo ezihambisana nomdlavuza.
Ukuguquguquka kwesisu
Emzimbeni womuntu kunezakhi zofuzo ezilawula umsebenzi obalulekile weseli. Uma kwenzeka ushintsho, umdlavuza ungathuthuka. I-pathology ingenzeka kunoma iyiphi iseli yomzimba, kuhlanganise ama-ovules noma i-spermatozoa (ukuguqulwa kwama-germ cells germs). Ngakho-ke, ukuguquguquka kungadluliselwa ezizukulwaneni eziphumelelayo. Ngokushintsha okunjalo, uhlobo lwefa ngokuvamile lulandelwa kahle.
Amacala omndeni weCanscer
Cishe 20% we-khansela angabhekwa njengomndeni. Lokhu kusho ukuthi emndenini ofanayo kukhona amacala amaningana omdlavuza ngaphandle kohlamvu olucacile lwefa. Ezimweni ezinjalo, lesi sifo singaba nomphumela:
- Ukuqoqa izinhlobo ezivamile zomdlavuza emndenini owodwa;
- ifa lezakhi zofuzo eziguqukayo zomdlavuza, okuhambisana nokunyuka okuncane engozini yokuba nomdlavuza;
- Ukubonisana ngokubambisana nezimo zemvelo ngaphakathi komndeni owodwa, njengomndeni wabasodi.
Kungase kube nokuhlanganiswa kwezici eziningana, njengefa lezakhi ezithile zomzimba ezenza umuntu abe nomthelela omkhulu wethonya lemvelo. Emzimbeni womuntu, kunamakhophi amabili yesigamu ngasinye esizuze njengefa kusukela kwabazali ngamunye. Uma omunye wabazali enekhophi eyodwa yesifo somdlavuza we-mutant, isisindo sokudluliselwa kwenzalo ngu-50%. Ngakho-ke, ingozi yokuba nomdlavuza ayisoloko izuzwe njengefa.
Ifa lofuzo
Ifa lekhophi elilodwa legciwane lesandulela ngculaza elibhekene nomdlavuza alisoze liholele esihlokweni njalo. Lokhu kungenxa yokuthi iseli liyakwazi ukusebenza ngendlela evamile ngekhophi yesibili ejwayelekile yegesi ezuzwe ngomunye umzali. Kodwa-ke, uma kulesi sakhi ukuguqulwa kwekhophi ejwayelekile kuphela ekhona, kungenza kuthuthukiswe isisu esinomdlavuza. Ezimweni eziningi, imbangela yokuguqulwa kwesibili ayiziwa.
Ingozi yokuba nomdlavuza
Amathuba okuthuthukiswa komdlavuza ngenxa yefa lokuguqulwa kwezakhi zofuzo ngokuya komdlavuza ubhekiswa yigama elithi "ukungena". Akuvamile ukuthi u-100%. Lokhu kusho ukuthi umuntu ozuza ifulethi elingenasici akagulisi umdlavuza, ngoba lokhu kudinga ukuguqulwa kanye nekhophi yesibili yesakhi. Ezinye izakhi zofuzo ezibangelwa umdlavuza zingabangela izicubu eziningi emndenini owodwa, njengomdlavuza webele ne-ovarian. Ezinye izakhi zofuzo zihlobene nengozi eyengeziwe yomdlavuza ngemuva kwesinye, izifo ezingekho ezimbi. Isibonelo, isifo esinjengesifo se-neurofibromatosis, sihambisana nokukhula komdlavuza wesimiso sezinzwa. Izikhalazo eziyinhloko zihlotshaniswa nesifo se-epileptic kanye nokuba khona kwama-nodules ezinobungozi esikhumbeni.
Ukuhlolwa kwengozi
Ingozi yokuba nomdlavuza ehlotshaniswa nefa lezakhi zofuzo ezibangelwa umdlavuza incike ekuhloleni uhlobo lwegciwane elingenasici kanye nokungena kwayo. Ekuhloleni izinga lokubeka ingozi, kunezici ezintathu eziyinhloko ezicatshangelwayo: amathuba okuba nesimo somndeni wesimo somdlavuza. Kuncike kwinani lamacala kanye nesimo somdlavuza okuyisici salo mndeni, kanye nesikhathi esiye senziwa ngayo lesi sifo; kungenzeka ukuthi ilungu lomndeni lizuze ifa lomthelela we-mutant. Kuxhomeke esimweni sakhe ku-pedigree, yobudala, ukutholakala kwesisu esibi; amathuba okuba nomdlavuza uma ifulethi izuzwa njengefa; kunqunywe ukungena kwayo. Ekuhloleni kokungcupheni, inhlanganisela yalezi zici iyabalwa. Ngokuvamile imiphumela kunzima ukuchaza ngesimo esitholwa isiguli. Ayikho indlela efanele yokumtshela ngengozi yokuba nomdlavuza - indlela kufanele ibe ngabanye. Ngokuvamile, izinga leengozi limelelwa njengephesenti noma njenge-1: X isilinganiso. Inani elitholakalayo liqhathaniswa nengozi ebantwini abaningi. Ukuphathwa kweziguli - abathwali bezakhi zofuzo ezibangelwa umdlavuza kuxhomeke, ikakhulukazi, ngezinga lokungcola kwentuthuko yomdlavuza. Ihlolwe ngosizo lwezingcikitsi ezikhethekile ekusetshenziseni ukwelulekwa kwezakhi zofuzo. Ukuzikhethela ngokweqile kumathumba emdlavuza emndenini kungatholakala ngaphansi kwezimo ezihlukahlukene, isibonelo, uma omunye wamalungu akhe ekhathazekile ngenani elikhulayo lamacala omdlavuza ezihlotsheni futhi efuna iseluleko esivela kuchwepheshe. Amalungu emindeni enesifo esiphakeme somdlavuza athambekele ekuhlakuleleni izicubu ezimbi ngesikhathi esincane. Ngaphezu kwalokho, ukukhubazeka emndenini kungase kube ngaphezu kwabantu.
Cancer ezinganeni
Ku-syndromes yomdlavuza wemindeni eminingi yomndeni, ukuqala kwesi sifo kuvamile ebuntwaneni, ngaphandle kwamathologi ajwayelekile kakhulu, njenge-endocrine neoplasia-H (MEN-H) syndrome.
Amazinga wokuhlala esibhedlela
Njengamanje, akunakwenzeka ukuba kwenziwe ukubhekwa kwesikhungo sezofuzo kuzo zonke iziguli ezinezifo zomdlavuza emndenini. Ngakho-ke, kubalulekile ukuthi lezi zikhungo zezokwelapha zihambisane nezindinganiso zokubhedlela. I-genetic centre inikeza nokuphathwa kweziguli engozini enkulu yokwenza umdlavuza, kodwa hhayi phezulu ngokwanele ukuthola ukuthunyelwa kwesazi. Umsebenzi wokwelulekwa kwezakhi zofuzo ukuhlinzeka iziguli ngolwazi olufinyelelekayo mayelana namaphethini okuthuthukiswa kwezicubu ezimbi.
Izikhungo zofuzo
Emtholampilo, odokotela bayakwazi ukuhlola isimo esasizuze njengefa kanye nengozi yokuba nomdlavuza, banikeze isiguli ngolwazi ngefa lezakhi zofuzo ezibabeka ekunciphiseni ingozi kanye nokuhlolwa kofuzo. Kubalulekile ukuchazela isiguli ukuthi akuzona zonke izimo zomdlavuza womndeni ezihlobene nefa lesigqi esaziwayo sokuzikhethela - eziningi zazo azibonakalwanga kuze kube yimanje. Ukuhlolwa kobungozi Ingozi yomdlavuza ingaba yinkinga ekubikeni ingozi enkulu yomdlavuza. Lokhu kufanele kwenziwe ngendlela yokuthi kungabangela ukukhathazeka ngokweqile kwesiguli. Kungaba nzima ukuchazela isiguli ukuthi ingozi yomdlavuza iphansi kunalokho acabanga. Isibonelo, kukhona ukungaqondakali ukuthi indodakazi yesiguli ngomdlavuza webele iqembu ekungeneni kakhudlwana kwalesi sifo. Uma icala lesifo sikamama lihlukile emndenini futhi isisu sesivele sesifinyelele emuva kokuya esikhathini, ingozi yokuthuthukisa umdlavuza webele akuyona ephakeme kunabantu. Uhlelo lokuphatha lwesiguli noma umndeni wonke lusekelwe emiphumeleni yokugcina yokuhlolwa kwamathuba okuba nesifo somdlavuza wokuguqula umdlavuza kanye nomngcipheko ohambisana nawo wokuthuthukisa isisu esinonya.
Kunezindawo ezine zokuphathwa kweziguli ezifana nalezi (zokuqala ezimbili zingasetshenziswa nakwezinkinga zokungalingani ngokulinganayo):
- ukuhlolwa komdlavuza - kubandakanya i-mammography ukukhipha izicubu zesifuba ne-colonoscopy ukuthola umdlavuza wekolon;
- ukuguqula indlela yokuphila - ukudla okunempilo okunempilo nokungabhemi;
- ukuhlaziywa kwezakhi zofuzo;
- izinyathelo zokuvimbela.
Izinyathelo zokuvimbela
Iziguli ezinengozi enkulu kakhulu ye-syndrome yomdlavuza we-inherited blood addition to the screening and lifestyle changes are given analysis analysis, kanye nezinyathelo eziningi zokuvimbela. Lezi zingabandakanya i-prophylactic mastectomy (ukususwa kwezinhlayiya ze-mammary) kanye ne-oophorectomy (ukususwa kwama-ovari) kubathwali be-BRCA1 / 2 gene kanye ne-colectomy (ukususwa kwengane enkulu) kubathwali begciwane le-FAP ukuvimbela ukuthuthukiswa komdlavuza walezi zikhathi esikhathini esizayo. Ukuthola ukuguqulwa kwezakhi ezithile zezakhi zofuzo ezibangelwa umdlavuza, kungenzeka ukuqhuba ukuhlolwa kwegazi okhethekile. Ukuguqulwa kwezinto ezivame ukungathinta ngokuphelele isakhi sofuzo, futhi imindeni ehlukene ngezihlukahluka ezihlukahlukene zezakhi zofuzo ziyisici. Kwezinye izizwe zamaqembu kukhona ukuthambekela kokuguquka okuthile. Ngaphambi kokuhlolwa kwezakhi zofuzo kunikezwa wonke amalungu omndeni, kubalulekile ukukhomba uhlobo lokushintsha komndeni. Ngenxa yalokhu, ukuhlolwa kwegazi kuqhutshwa ngokuyinhloko ngelungu lomndeni oselevele elithinteka umdlavuza. Uma uhlobo oluthile lokuguqulwa komndeni luqunyiwe, kungenzeka ukuqhuba ukuhlaziywa kwezakhi zofuzo zonke ezinye izihlobo. Ngeshwa, kuvame ukuthi kwenzeka ukuthi amanye amalungu emndenini onomdlavuza ayasaphila futhi akunakwenzeka ukuba ahlole ukuhlolwa kofuzo. Kulesi simo, ukuphathwa komndeni wonke kunqunyelwe ukuhlola ukuthi kungenzeka yini ifa lokuguquguquka.
Imiphumela yokuhlaziywa kwezakhi zofuzo
Ukuhlolwa kofuzo kufanele kwenziwe kuphela ngokululekwa okuphelele kwezakhi zofuzo, lapho kuqhubeka khona imiphumela futhi kunika isikhathi sokuzindla. Ukubonisana kuxoxisana ngokubaluleka komphakathi kanye nomuntu wemiphumela emihle yokuhlola noma emibi. Umphumela omuhle ungaba nemiphumela emibi yengqondo yomuntu ovivinywe kanye namalungu omndeni wakhe. Kungabangela nemiphumela engalungile yomphakathi, njengokungakwazi ukuqinisekisa impilo yomuntu noma ukuthola umsebenzi.
Ukuvivinya izifo ezinganeni
Izingane azikhuthazwa njalo ukusebenzisa izivivinyo zofuzo ukuze zihlonze izakhi zofuzo ezihlotshaniswa nokuthi kungenzeka ukuba nomdlavuza ekudala. Ucwaningo luqhutshwa kuphela lapho kwenzeka ukuthi imiphumela yaso ingathinta ukuphathwa kwesiguli, isibonelo, ku-MEN-PA syndrome. Ezimweni ezinjalo, abathwali be-genetic mutant banikezwa i-thyroidectomy eneminyaka engu-5 kuya kweyishumi nanhlanu, okungafani ngokuphelele nokuthuthukiswa komdlavuza we-thyroid.