Ngaba ufumana amaqhuma angaqhelekanga eluswini lwakho? Ngaba oku kungaba yiMuir-Torre Syndrome?

Ngaba ngequbuliso uqalile ukuba namaqhuma amancinci eluswini lwakho? Usenokucinga ukuba la maqhuma aqhelekile. Nangona kunjalo, ngamanye amaxesha olu tshintsho lolusu lunokunxulunyaniswa neengxaki zangaphakathi. Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebaluleke kakhulu ekufuneka uyiqaphele. Ibizwa ngokuba yiMuir-Torre Syndrome.

Yintoni iMuir-Torre Syndrome? Ngamafutshane...

I-Muir-Torre Syndrome sisifo esingaqhelekanga semfuza esongeza umngcipheko wokuba neentlobo ezahlukeneyo zomhlaza ebomini bakho. Abantu abanale sifo badla ngokuba neethumba zesikhumba, nokuba zinomhlaza okanye azinobungozi (oko kukuthi, azinobungozi) eluswini lwabo. Basenokuba nomhlaza omnye okanye ngaphezulu emzimbeni, ingakumbi kwindlela yokugaya ukutya .

Cinga nje, umzimba wethu wenziwe zizigidi zeeseli ezincinci. Xa ezi seli zahlukana, ngamanye amaxesha utshintsho oluncinci (utshintsho) kwiijini lunokwenzeka. Yiloo nto ibangela olu tshintsho kwijini.

Ngoko ke, ngaba iMuir-Torre Syndrome iyafana neLynch Syndrome?

Ixesha elininzi, ewe. I-Moore-Torre syndrome ithathwa njengohlobo lwe-Lynch syndrome . I-Lynch syndrome ikwayimeko eyonyusa umngcipheko womhlaza ngenxa yotshintsho oluninzi lwemfuza. Ngamanye amaxesha oogqirha bayibiza ngokuba yi-Hereditary Non-Polyposis Colorectal Cancer (HNPCC). Oku kuthetha ukuba umhlaza ukhula kwikholoni ngaphandle kwee-polyps. Ngoko ke, i-Moore-Torre yinxalenye ye-Lynch syndrome ebonisa iimpawu ezikhethekileyo zesikhumba.

Ixhaphake kangakanani le meko? Ngaba kufuneka sikhathazeke ngale nto eSri Lanka?

I-Moore-Torre syndrome yimeko engaqhelekanga kakhulu . Kuye kwaxelwa malunga neemeko ezingama-200 kwihlabathi liphela. Nangona kunjalo, oku akuthethi ukuba akufanele siqaphele. Malunga ne-9.2% yabantu abane-'HNPCC' banokubonisa ezi mpawu zeMoore-Torre. Kubonakala ngathi ichaphazela amadoda ngaphezu kwabasetyhini (oko kukuthi, malunga nabasetyhini ababini kumadoda amathathu). Nangona kungekho zibalo zichanekileyo zokuba bangaphi abantu eSri Lanka, kubalulekile ukuqaphela ezi meko.

Zithini iimpawu zeMoore-Torre syndrome? Siyibona njani?

Oku kungenxa yokubonakala kwamaqhuma okanye utshintsho eluswini kunye neempawu zomhlaza wangaphakathi . Ngamanye amaxesha iingxaki zesikhumba zinokuvela ngaphambi, ngaxeshanye, okanye emva kokuba umhlaza wangaphakathi uvele. Nangona kunjalo, utshintsho lolusu ludla ngokuba luphawu lokuqala olubonwayo . Eminye imimhlaza isenokungabonakalisi zimpawu kwizigaba zokuqala.

Zeziphi iinguqu onokuzibona eluswini?

Oku kulandelayo kunokubonwa eluswini lomntu onesifo iMoore-Torre syndrome:

• I-Sebaceous adenomas: Ezi zezona ngxaki zixhaphakileyo zesikhumba (80% - 99%). Ezi zii-tumor ezingezizo zomhlaza (ezingenobungozi). Zikhula kwi-sebaceous glands, ezizi-oil glands eluswini lwethu. Zihlala zifumaneka entloko nasentanyeni, kwaye kubantu abanesifo sikaMoore-Torre, zixhaphake kakhulu esifubeni, esiswini, ezinqeni nasemqolo . Zibukeka njengeziqwenga ezincinci, eziqinileyo, ezimthubi okanye ezinombala wesikhumba .
• I-Sebaceous carcinoma: Le yi -tumor enomhlaza (enobungozi) ekhula kwi-sebaceous glands. Ingabonakala njenge-sebaceous adenoma. Kodwa isasazeka ngokukhawuleza, ingakumbi ejikeleze iinkophe . Ezi tumor zinokopha okanye zikhuphe into erhabaxa.
• I-Keratoacanthoma: Olu lolunye uhlobo lwethumba lolusu. Linokuvela entloko, entanyeni, esiqwini, nasezingalweni kufutshane neefollicles zeenwele. Linokuba ngumhlaza okanye lingabi ngumhlaza . Libonakala ngathi liqhuma elincinci, elingqukuva, ngamanye amaxesha linemithambo yegazi ebonakalayo phezulu, kunye neqhubu le-keratin embindini . Likhula ngokukhawuleza kakhulu, malunga neesentimitha ezi-3 ngobukhulu kwiiveki ezimbalwa, kwaye emva koko lincipha kancinci kancinci kwiinyanga okanye kwiminyaka. Kunokubakho elinye okanye ngaphezulu.
• Amabala eFordyce: Ngenxa yokuba amabala e-sebaceous adla ngokubandakanyeka kwiMoore-Torre syndrome, abanye oogqirha bacinga ukuba la "mabala eFordyce" luphawu. La ngamabala e-sebaceous aphakanyisiweyo, akhuliswe kancinci avela kwiindawo ezingenazinwele, njengakwimilebe . Izifundo zibonise ukuba aqheleke kakhulu kwiMoore-Torre syndrome.

Khumbula, ukuba ubona iqhuma elitsha okanye utshintsho olunje eluswini lwakho, ingakumbi ukuba likhula ngokukhawuleza, litshintsha umbala, okanye liphuma igazi, ngokuqinisekileyo kuya kufuneka ubone ugqirha.

Ziziphi ii-cancer ezinxulunyaniswa ne-Moore-Torre syndrome?

Iintlobo ezahlukeneyo zomhlaza zinokwenzeka xa unesifo esi. Ezona ntlobo zomhlaza zixhaphakileyo kunye neempawu zazo zezi:

• Umhlaza weColoral Eclipse: Olu lolona hlobo luqhelekileyo lomhlaza . Luchaphazela malunga nesiqingatha sabo bonke abantu. Lubangelwa kukukhula kweeseli zomhlaza kulwelo lwe-colon okanye i-rectum. Ngokwahlukileyo koko, kuMoore-Torre, lo mhlaza ungakhula kwiminyaka eli-15-20 ngaphambi kwexesha eliqhelekileyo, ngesiqhelo malunga neminyaka engama-50 ubudala. Ungasasazeka ngokukhawuleza . Iimpawu ziquka iintlungu zesisu, ukudumba, utshintsho kwimikhwa yamathumbu, kunye negazi elikwindle .
• Umhlaza wesisu: Lo ngumhlaza oqhele ukubonwa kwiMoore-Torre. Iimpawu zingabandakanya iintlungu zesisu, ukudumba, igazi esitulweni, ubunzima bokugaya ukutya, isicaphucaphu, kunye nokuphelelwa ngumdla wokutya .
• Umhlaza wenkqubo yomchamo:Ikwabizwa ngokuba yi-`(Urothelial carcinoma)` okanye `(transitional carcinoma)`. Oku kuchaphazela ulwelo lwenkqubo yomchamo. Kunokubangela iintlungu xa uchama kunye negazi kumchamo .
• Umhlaza we-endometrial: Lo ngumhlaza okhula kwi-endometrium, ulwelo lwangaphakathi lwesibeleko . Unokubangela iintlungu zesisu esisezantsi, iintlungu zesinqe, kunye nokukhupha igazi okanye ukopha okungaqhelekanga kwilungu lobufazi .

Ukongeza, ezinye iintlobo ezininzi zomhlaza zinokunxulunyaniswa nale syndrome, kuquka:

• Umhlaza wesibeleko
• Umhlaza weprostate
• Umhlaza wesinyi
• Umhlaza wezintso
• Umhlaza wamathumbu amancinci
• Umhlaza wesibindi
• Umhlaza wemiphunga
• Umhlaza wegazi
• Kukho umhlaza wobuchopho kunye nezinye iintlobo.

Olu luhlu lusenokubonakala luyoyikisa. Kodwa into ebalulekileyo kukuba ayizizo zonke ezi cancer eziya kuvela kuye wonke umntu. Kwaye, ukuba zifunyenwe kwangethuba, zinokunyangwa .

Kutheni kukho iMoore-Torre syndrome? Yintoni unobangela?

Ngamafutshane, iMoore-Torrell syndrome ibangelwa kukuguquka kwenye yezakhi zofuzo zakho . Ukuguquka kukutshintsha kolandelelwano lweDNA yethu. Le DNA ikopishwa xa iiseli zethu zahlukana kwaye zenza iiseli ezintsha. Ngamanye amaxesha iimpazamo zinokwenzeka. Ukuba iseli engaqhelekanga iyaqhubeka nokwahlukana, inokubangela izifo ezahlukeneyo, kuquka nomhlaza.

Ziziphi iinguqulelo zemfuza ezichaphazela oku?

Kukho iintlobo ezimbini ikakhulu:

• I-Type 1 Moore-Torre syndrome (Type 1 MTS): Oku kubangelwa kukuguquka kwenye yeejini ezenza iimpazamo kulandelelwano lwe-DNA yakho . Xa ezi jini zingakwazi ukulungisa iimpazamo, iiseli ezingaqhelekanga ziyaqokelelana kwizicubu. Kwiimeko ezingama-90%, ijini ebizwa ngokuba yi-MSH2 iyachaphazeleka. Nangona kunjalo, ezinye iijini ezininzi, ezifana ne-MLH1, MSH6, kunye ne-PMS2, zinokubandakanyeka.
• I-Type 2 Moore-Torrell Syndrome (MTS): Oku kubangelwa kukuguquka kwe-gene ye-MUTYH. Le gene inoxanduva lokulungisa umonakalo we-oxidative kwi-DNA yethu. Malunga nesinye kwisithathu sabantu abane-MTS banalo olu hlobo. I-oxidation ibangela utshintsho kwi-molecule ye-DNA, nto leyo enokukhokelela ekukhuleni kweeseli okungalawulekiyo (oko kukuthi, umhlaza). Xa i-gene eguquliweyo ingakwazi ukulungisa lo monakalo, umonakalo uyaqhubeka.

Ingaba le yinto evela kwizizukulwana ngezizukulwana?

Kusenokwenzeka ukuba, ewe, lufuzo . Nangona kunjalo, ngamanye amaxesha umntu unokuphuhlisa utshintsho olutsha lwezakhi zofuzo ngaphandle kokuba nabani na kusapho abe nalo ngaphambili. Malunga nama-60% ezigulana zinokufumana imbali yosapho yesifo sikaMoore-Torre. Nangona kunjalo, kuba ayinguye wonke umntu onesifo soguquko lwezakhi zofuzo obonakalisa iimpawu, olu nxibelelwano losapho alusoloko lucacile.

Abanye abantu banokuba nale meko ngaphandle kweempawu, kwaye basenokungazi nokuba bayayifumana. Kwakhona, ngamanye amaxesha xa inkqubo yomzimba yokuzikhusela ibuthathaka, le 'MTS' efihlakeleyo ingasetyenziswa. Abanye abantu baye bayifumana le meko emva kokufakelwa amalungu omzimba aqinileyo kunye nokuthatha amayeza okunciphisa amasosha omzimba.

Oku kudluliswa njani kwizizukulwana ngezizukulwana?

• Uhlobo 1 lwe-MTS yimeko "elawulwa yi-autosomal". Oku kuthetha ukuba kufuneka ube nekopi enye kuphela yejini eguquliweyo ukuze uyifumane le meko. Ukuba omnye wabazali bakho une-gene mutation, unethuba lama-50% lokuyifumana njengelifa. Nangona kunjalo, indlela ohlakulela ngayo iimpawu inokwahluka kumzali ozuze kuye ijini.
• Uhlobo lwesibini lwe-MTS yimeko ye-"autosomal recessive". Oku kuthetha ukuba ukuze uzuze esi sifo, bobabini abazali bakho kufuneka babe notshintsho olufanayo lwezakhi zofuzo. Oku kunqabile kakhulu. Nangona kunjalo, abazali abanekopi enye kuphela yale gene ye-"autosomal recessive" basenokungabi nazimpawu, ngoko ke basenokungazi ukuba banayo.

Oogqirha bayixilonga njani iMuir-Torre Syndrome?

Ukuba unamaqhuqhuva eluswini afana nala akhankanyiweyo apha ngasentla, ingakumbi esiqwini sakho, okanye ukuba avele esemncinci, ugqirha unokurhanela ukuba uneMoore-Torrell syndrome. Uza kukubuza nangezinye iimpawu ezinokubonisa umhlaza wangaphakathi, kunye nokuba kukho nabani na kusapho lwakho onembali yomhlaza.

Luhlobo luni lovavanyo olwenziwayo koku?

Ugqirha wakho unokwenza uvavanyo lokuqala ngaphambi kokuba akucebise uvavanyo lwemfuza. Umzekelo:

• I-Immunohistochemistry (IHC): Kuthathwa isampulu encinci yeqhuma eluswini lwakho, idaywe ngedayi ekhethekileyo, ize ihlolwe phantsi kwe-microscope ukuze kubonwe ukuba isampulu ineenguqu ezithile zemfuza.

Ngeziphumo zezi mvavanyo kunye nolunye ulwazi, ugqirha wakho unokucebisa uvavanyo lwezakhi zofuzo ukujonga utshintsho kwiizakhi zofuzo ezinxulumene ne-Moore-Torre syndrome. Emva koko baya kuthatha isampuli yegazi lakho baze bajonge utshintsho kwiizakhi zofuzo zokulungisa ezingafaniyo i-MSH2, i-MLH1, i-MSH6, i-PMS2, okanye i-base excision repair gene i-MUTYH.

Luhlobo luni lovavanyo lomhlaza ekufuneka umntu oneMoore-Torre syndrome alufumane rhoqo?

Kubaluleke kakhulu kubantu abanale sifo ukuba bahlolwe umhlaza rhoqo , kuba ukubonwa kwangethuba kwandisa amathuba okufumana unyango oluphumelelayo. Uvavanyo olunokucetyiswa ngoogqirha lungabandakanya:

• I-Colonoscopy: Uvavanyo lwamathumbu amakhulu.
• I-Upper endoscopy (EGD): Uvavanyo lwe-esophagus, isisu, kunye nenxalenye yokuqala yamathumbu amancinci.
• Uvavanyo lweprostate ( kumadoda)
• I-Mammogram:Ukuhlolwa komhlaza webele (kwabasetyhini)
• Uvavanyo lwe-pelvic ( kwabasetyhini)
• I-Pap smear: Uvavanyo lomhlaza womlomo wesibeleko (kubafazi)
• I-cytology yomchamo: Yeemhlaza zenkqubo yomchamo.
• Uvavanyo lokusebenza kwesibindi
• Ubalo lwegazi olupheleleyo (i-CBC)
• Uvavanyo lomzimba
• Uvavanyo lolusu
• I-X-reyi yesifuba

Ugqirha wakho uya kugqiba ukuba kufuneka wenze olu vavanyo kangaphi.

Ziziphi iindlela zonyango zeMoore-Torre syndrome?

Eyona nto iphambili ekulawuleni iMoore-Torre syndrome kukufumana nokususa umhlaza ukuba uyenzeka . Kuya kufuneka uhlolwe rhoqo umhlaza kwaye uthathe ii-biopsy zayo nayiphi na izicubu ezikrokrelekayo. Ukuba ugqirha wakho ufumene umhlaza, uya kuwunyanga ngokohlobo lwawo kunye nenqanaba lawo. Utyando lokususa umhlaza ludla ngokuba lolona nyango lokuqala .

Ezinye iindlela zonyango lomhlaza zingabandakanya:

• Unyango ngamakhemikhali
• Unyango ngemitha
• Unyango lwehomoni
• Unyango lwe-immunotherapy
• Unyango olujoliswe kulo
• Ukufakelwa komongo wethambo

Ukongeza, i-retinoid yomlomo ebizwa ngokuba yi-isotretinoin inokunceda ukuthintela ukwakheka kwezilonda ezintsha zolusu. Ukuba i-colonoscopy yakho ifumana ii-polyps ezininzi zamathumbu amakhulu (ezisengozini enkulu yokuba nomhlaza), ugqirha wakho unokucebisa ukuba kwenziwe i-colectomy yokuthintela umhlaza, equka ukususa inxalenye okanye yonke i-colon yakho.

Ithini ingqikelelo yomntu onesifo iMoore-Torre syndrome?

Ingqikelelo yakho ixhomekeke ekubeni zingaphi ii-cancer ozifumanayo kunye nokuba zisasazeka kangakanani. Izibalo zibonisa ukuba malunga nesiqingatha sabantu abane-Moore-Torre syndrome banesifo somhlaza esingaphezu kwesinye. Ngaphezulu kwesiqingatha banesifo somhlaza osasazekayo (umhlaza osasazeke kwamanye amalungu omzimba kwaye kunzima ukuwunyanga).

Iimhlaza ezineMoore-Torre syndrome zihlala zibonakala zimalunga neminyaka engama-50 ubudala . Ezi mhlaza zinokukhula kwaye zibe mandundu ngokukhawuleza kunakuluntu ngokubanzi. Ke ngoko, ukufunyaniswa kwangethuba kubalulekile . Kwakhona, kukho ithuba elikhulu lokuba umhlaza uphinde ubuye nasemva kokuba ususiwe. Ke ngoko, ukuvavanywa rhoqo emva konyango kubalulekile.

Ngaba ikho indlela yokuthintela oku?

Ngokwesiqhelo akunjalo. Oku kungenxa yokuba yimeko ozalwa unayo. Nangona kunjalo, ayinguye wonke umntu oza kuba neempawu. Kwanabo babonakalisa iimpawu basenokuchaphazeleka kancinci sesi sifo kunabazali babo. Izazinzulu azikaqiniseki ukuba kutheni oku kusenzeka. Nangona kunjalo, kuye kwabonwa ukuba le meko inokuba mandundu ukuba inkqubo yomzimba yokuzikhusela ibuthathaka .

Ukwazi ukuba unale nguqu yemfuza kunokukunceda wenze izigqibo ezithile zokuthintela. Umzekelo, uvavanyo lwemfuza kunye neengcebiso zemfuza kunokukunceda uthintele ukudlulisela esi sifo kubantwana bakho. Kwakhona, ukwazi oku kunokukunceda uchonge umhlaza kwangethuba kwaye uqale unyango, ukuthintela iziphumo ezimbi.

Nangona iMoore-Torre syndrome ingaqhelekanga, akulula ukumelana nokuxilongwa okunje. Kungabonakala kunzima ukulwa nento ekwiDNA yethu. Kodwa, ulwazi lungamandla . Ngokuqatshelwa nonyango ngexesha elifanelekileyo, wena nogqirha wakho ninokujongana nalo mceli mngeni.

Okokugqibela, umyalezo oya ekhaya

Kulungile, masishwankathele ezinye zezinto ekufuneka uzikhumbule koko sithethe ngako:

• I-Muir-Torre Syndrome yimeko yemfuza eyonyusa umngcipheko wokuba neethumba zesikhumba kunye nomhlaza wangaphakathi (ingakumbi kwindlela yokugaya ukutya).
• Ukuba ubona iqhuma elitsha nelingaqhelekanga eluswini lwakho, ingakumbi emqolo wakho, funa ingcebiso kagqirha ngoko nangoko. Lisenokuba yinto engekhoyo, kodwa kungcono ulihlole.
• Olu luhlobo lwesifo seLynch. Ukuba kukho umntu kusapho lwakho onembali yomhlaza, xelela ugqirha wakho ngayo.
• Ukufunyanwa kwangoko kunye nokuhlolwa rhoqo kubaluleke kakhulu. Oku kunokunceda ekufumaneni umhlaza kwangethuba kwaye kunyangwe ngempumelelo.
• Uvavanyo lwemfuza kunye neengcebiso kunokunceda ekuqinisekiseni ukuba le meko ikhona na kwaye ingaba ichaphazela na amalungu osapho.
• Musa ukoyika, kodwa qaphela. Awuwedwa, kwaye oogqirha bakhona ukukunceda.

Ndiyathemba ukuba olu lwazi luluncedo kuwe. Hlala usempilweni!

Isifo sikaMuir -Torre, iSifo sikaLynch, uMhlaza wolusu, izifo zemfuza, uMhlaza weSisu, uHlolo loMhlaza, uTshintsho lweMfuzo