Ingabe uthola amaqhubu angajwayelekile esikhumbeni sakho? Ingabe lokhu kungaba yi-Muir-Torre Syndrome?

Ingabe uke waqala ngokuzumayo ukuba namaqhubu amancane esikhumbeni sakho? Ungase ucabange ukuthi lokhu kuyinto evamile. Kodwa-ke, ngezinye izikhathi lezi zinguquko zesikhumba zingahlotshaniswa nezinkinga zangaphakathi. Namuhla sizokhuluma ngesimo esingavamile kodwa esibaluleke kakhulu okufanele usiqaphele. Sibizwa ngokuthi i-Muir-Torre Syndrome.

Iyini i-Muir-Torre Syndrome? Kalula nje...

I-Muir-Torre Syndrome yisimo esingavamile sofuzo esanda ingozi yakho yokuthola izinhlobo ezahlukene zomdlavuza ngesikhathi sokuphila kwakho. Abantu abanalesi sifo bavame ukuba nezimila zesikhumba, kungaba umdlavuza noma umdlavuza ongemuhle (okungukuthi, ongemuhle) esikhumbeni sabo. Bangase futhi babe nomdlavuza owodwa noma ngaphezulu emzimbeni, ikakhulukazi endleleni yokugaya ukudla .

Cabanga ngakho, imizimba yethu yakhiwe izigidi zamangqamuzana amancane. Uma lawa maseli ehlukana, ngezinye izikhathi izinguquko ezincane (ukuguqulwa kwezakhi zofuzo) kungenzeka. Yilokho okubangela lolu shintsho lwezakhi zofuzo.

Ngakho-ke ingabe i-Muir-Torre Syndrome iyafana ne-Lynch Syndrome?

Esikhathini esiningi, yebo. I-Moore-Torre syndrome ibhekwa njengohlobo lwe-Lynch syndrome . I-Lynch syndrome nayo iyisimo esanda ingozi yomdlavuza ngenxa yezinguquko eziningana zofuzo. Ngezinye izikhathi odokotela bayibiza nangokuthi i-Hereditary Non-Polyposis Colorectal Cancer (HNPCC). Lokhu kusho ukuthi umdlavuza ukhula emathunjini ngaphandle kwama-polyps. Ngakho-ke, i-Moore-Torre iyingxenye ye-Lynch syndrome ekhombisa izici zesikhumba ezikhethekile.

Ingabe lesi simo sivame kangakanani? Ingabe kufanele sikhathazeke ngalokhu eSri Lanka?

I-Moore-Torre syndrome empeleni iyisimo esingavamile kakhulu . Kubikwe amacala angaba ngu-200 emhlabeni jikelele. Kodwa-ke, lokhu akusho ukuthi akufanele siqaphele. Cishe abantu abangu-9.2% abane-'HNPCC' bangase babonise lezi zici ze-Moore-Torre. Kubonakala sengathi futhi ithinta amadoda kancane kunabesifazane (okungukuthi, abesifazane abangaba ngu-2 kumadoda amathathu). Nakuba kungekho zibalo eziqondile zokuthi bangaki abantu eSri Lanka, kubalulekile ukuqaphela izimo ezinjalo.

Ziyini izimpawu ze-Moore-Torre syndrome? Siyibona kanjani?

Lokhu kubangelwa kakhulu ukubonakala kwamaqhubu noma izinguquko esikhumbeni kanye nezimpawu zomdlavuza wangaphakathi . Ngezinye izikhathi izinkinga zesikhumba zingavela ngaphambi, ngesikhathi esifanayo, noma ngemva kokukhula komdlavuza wangaphakathi. Kodwa-ke, izinguquko zesikhumba zivame ukuba uphawu lokuqala olubonakalayo . Eminye imidlavuza ingase ingakhombisi zimpawu ezigabeni zokuqala.

Yiziphi izinguquko ongazibona esikhumbeni?

Okulandelayo kungabonakala esikhumbeni somuntu onesifo i-Moore-Torre:

• Ama-adenoma e-Sebaceous: Lezi yizinkinga zesikhumba ezivame kakhulu (80% - 99%). Lezi yizimila ezingezona ezomdlavuza (ezingenobungozi). Zikhula ezindlaleni ze-sebaceous, okuyizindlala zamafutha esikhumbeni sethu. Ngokuvamile zitholakala ekhanda nasentanyeni, kanti kubantu abanesifo i-Moore-Torre, zivame kakhulu esifubeni, esiswini, ezinqeni nasemhlane . Zibukeka njengezimbotshana ezincane, eziqinile, eziphuzi noma ezinombala wesikhumba .
• I-carcinoma ye-Sebaceous: Lesi yisisu esinomdlavuza (esiyingozi) esikhula ezindlaleni ze-sebaceous. Singase sibukeke njenge-adenoma ye-sebaceous. Kodwa sisakazeka ngokushesha, ikakhulukazi eduze kwamehlo . Lezi zimila zingase zophe noma zikhiphe into eqhekeziwe.
• I-Keratoacanthoma: Lolu olunye uhlobo lwesimila sesikhumba. Singakhula ekhanda, entanyeni, esiqwini nasezingalweni eduze kwezinwele. Singaba nomdlavuza noma singabi nomdlavuza . Sibukeka njengesigaxa esincane, esiyindilinga, ngezinye izikhathi esinemithambo yegazi ebonakalayo phezulu, kanye nefindo le-keratin phakathi . Sikhula ngokushesha kakhulu, cishe ngamasentimitha amathathu ngobukhulu emavikini ambalwa, bese sincipha kancane kancane ezinyangeni noma eminyakeni. Kungase kube khona esisodwa noma ngaphezulu.
• Amabala e-Fordyce: Ngenxa yokuthi amabala e-sebaceous avame ukuhileleka ku-Moore-Torre syndrome, abanye odokotela babheka lawa "mabala e-Fordyce" njengophawu. Lawa amabala e-sebaceous aphakanyisiwe, akhuliswe kancane avela ezindaweni ezingenazinwele, njengasezindaweni ezizungeze izindebe . Izifundo zibonise ukuthi avame kakhulu ku-Moore-Torre syndrome.

Khumbula, uma ubona iqhubu elisha noma ushintsho olufana nalolu esikhumbeni sakho, ikakhulukazi uma likhula ngokushesha, lishintsha umbala, noma liphuma igazi, kufanele nakanjani ubone udokotela.

Yimiphi imidlavuza ehlotshaniswa ne-Moore-Torre syndrome?

Izinhlobo ezahlukene zomdlavuza zingavela ngalesi sifo. Umdlavuza ovame kakhulu kanye nezimpawu zawo yilezi:

• Umdlavuza we-Colorectal: Lolu uhlobo lomdlavuza oluvame kakhulu . Luthinta cishe ingxenye yabo bonke abantu. Lubangelwa ukukhula kwamangqamuzana omdlavuza olwelwesini lwe-colon noma i-rectum. Ngokuphambene nalokho, ngoMoore-Torre, lo mdlavuza ungavela eminyakeni eyi-15-20 ngaphambi kokujwayelekile, ngokuvamile cishe eminyakeni engama-50. Ungasakazeka ngokushesha . Izimpawu zifaka phakathi ubuhlungu besisu, ukuqunjelwa, izinguquko emikhubeni yamathumbu, kanye negazi esitulweni .
• Umdlavuza wesisu: Lona futhi umdlavuza ovame ukubonakala kuMoore-Torre. Izimpawu zingase zihlanganise ubuhlungu besisu, ukuqunjelwa, igazi esitulweni, ubunzima bokugaya ukudla, isicanucanu, kanye nokulahlekelwa yisifiso sokudla .
• Umdlavuza wohlelo lomchamo:Ibizwa nangokuthi `(Urothelial carcinoma)` noma `(transitional carcinoma)`. Lokhu kuthinta ulwelwesi lwesistimu yomchamo. Kungabangela ubuhlungu lapho uchama kanye negazi emchameni .
• Umdlavuza we-endometrial: Lona umdlavuza okhula ku-endometrium, ulwelwesi lwangaphakathi lwesibeletho . Ungabangela ubuhlungu besisu esingezansi, ubuhlungu be-pelvic, kanye nokuphuma kwegazi okungajwayelekile kwesitho sangasese sowesifazane noma ukuphuma kwegazi .

Ngaphezu kwalokho, ezinye izinhlobo eziningana zomdlavuza zingase zihlotshaniswe nalesi sifo, okuhlanganisa:

• Umdlavuza wesibeletho
• Umdlavuza we-prostate
• Umdlavuza wesinye
• Umdlavuza wezinso
• Umdlavuza wamathumbu amancane
• Umdlavuza wesibindi
• Umdlavuza wamaphaphu
• Umdlavuza wegazi
• Kukhona umdlavuza wobuchopho nezinye izinhlobo.

Lolu hlu lungase lubonakale luthusa. Kodwa into ebalulekile ukuthi akuzona zonke lezi zinhlanzana ezizokhula kuwo wonke umuntu. Futhi, uma zitholakala kusenesikhathi, zingelashwa .

Kungani kwenzeka i-Moore-Torre syndrome? Iyini imbangela?

Kalula nje, i-Moore-Torrell syndrome ibangelwa ukuguquka kwesinye sezakhi zofuzo zakho . Ukuguquka kwezakhi zofuzo kuyizinguquko ochungechungeni lwe-DNA yethu. Le DNA ikopishwa lapho amangqamuzana ethu ehlukana futhi enza amangqamuzana amasha. Ngezinye izikhathi amaphutha angenzeka. Uma iseli elinjalo elingajwayelekile liqhubeka nokuhlukana, lingabangela izifo ezahlukahlukene, okuhlanganisa nomdlavuza.

Yikuphi ukuhlukahluka kwezakhi zofuzo okuthinta lokhu?

Kunezinhlobo ezimbili ikakhulukazi:

• I-Type 1 Moore-Torre syndrome (Type 1 MTS): Lokhu kubangelwa ukuguquka kwesinye sezakhi zofuzo ezenza amaphutha ku-DNA yakho . Uma lezi zakhi zofuzo zingakwazi ukulungisa amaphutha, amangqamuzana angajwayelekile aqoqana ezicutshini. Ezimweni ezingama-90%, isakhi sofuzo esibizwa nge-MSH2 siyathinteka. Kodwa-ke, ezinye izakhi zofuzo eziningana, njenge-MLH1, MSH6, kanye ne-PMS2, zingase zihileleke.
• I-Type 2 Moore-Torrell Syndrome (MTS): Lokhu kubangelwa ukuguquka kwezakhi zofuzo ze-MUTYH. Le zakhi zofuzo zinomthwalo wokulungisa umonakalo we-oxidative kwi-DNA yethu. Cishe ingxenye eyodwa kwezintathu zabantu abane-MTS banalolu hlobo. Ukwanda kwe-oxidation kubangela izinguquko ku-molecule ye-DNA, okungaholela ekukhuleni kwamaseli okungalawuleki (okungukuthi, umdlavuza). Lapho izakhi zofuzo eziguquliwe zingakwazi ukulungisa lo monakalo, umonakalo uyaqhubeka.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Cishe, yebo, kuyifa . Kodwa-ke, ngezinye izikhathi umuntu angakha uguquko olusha lwezakhi zofuzo ngaphandle kokuba noma ubani emndenini abe nalo ngaphambili. Cishe ama-60% eziguli angathola umlando womndeni we-Moore-Torre syndrome. Kodwa-ke, ngenxa yokuthi akuwona wonke umuntu onalolu guquko lwezakhi zofuzo oluba nezimpawu, lokhu kuxhumana komndeni akuhlali kusobala.

Abanye abantu bangase babe nalesi simo ngaphandle kwezimpawu, futhi bangase bangazi ngisho nokungazi. Futhi, ngezinye izikhathi lapho isimiso somzimba sokuzivikela sibuthakathaka, le 'MTS' efihliwe ingasetshenziswa. Abanye abantu baye baba nalesi simo ngemva kokuthola 'ukufakelwa isitho esiqinile' nokuphuza imithi yokucindezela amasosha omzimba.

Lokhu kudluliswa kanjani ezizukulwaneni ngezizukulwane?

• I-Type 1 MTS iyisimo "esilawulwa yi-autosomal". Lokhu kusho ukuthi udinga ikhophi eyodwa kuphela ye-gene eguquliwe ukuze uthole lesi simo. Uma omunye wabazali bakho enalesi shintsho se-gene, unethuba elingu-50% lokusithola njengefa. Kodwa-ke, indlela othola ngayo izimpawu ingase ihluke kumzali othole kuye i-gene.
• I-MTS yohlobo lwesibili iyisimo "esibizwa ngokuthi i-autosomal recessive". Lokhu kusho ukuthi ukuze uthole lesi sifo njengefa, bobabili abazali bakho kumele babe nokuguqulwa kwezakhi zofuzo okufanayo. Lokhu akuvamile kakhulu. Kodwa-ke, abazali abanekhophi eyodwa kuphela yalesi sakhi sofuzo "esibizwa ngokuthi i-autosomal recessive" bangase bangabi nazimpawu, ngakho-ke bangase bangazi ukuthi banaso.

Odokotela bayixilonga kanjani i-Muir-Torre Syndrome?

Uma unezigaxa zesikhumba ezifana nalezo ezishiwo ngenhla, ikakhulukazi esiqwini sakho, noma uma zivele zisencane, udokotela angase asole i-Moore-Torrell syndrome. Uzophinde akubuze ngezinye izimpawu ezingase zibonise umdlavuza wangaphakathi, nokuthi ngabe kukhona yini emndenini wakho onomlando womdlavuza.

Hlobo luni lokuhlolwa okwenziwayo ngalokhu?

Udokotela wakho angenza izivivinyo eziningana zokuqala ngaphambi kokuncoma ukuhlolwa kofuzo. Isibonelo:

• I-Immunohistochemistry (IHC): Kuthathwa isampula encane yesigaxa esikhumbeni sakho, sifakwe umbala okhethekile, bese sihlolwa ngaphansi kwe-microscope ukuze kubonakale ukuthi isampula iqukethe yini izinguquko ezithile zofuzo.

Ngemiphumela yalezi zivivinyo kanye nolunye ulwazi, udokotela wakho angase ancome ukuhlolwa kwezakhi zofuzo ukuze ahlole izinguquko ezakhiweni zofuzo ezihlobene ne-Moore-Torre syndrome. Bazobe sebethatha isampula yegazi lakho bese bebheka izinguquko ezakhiweni zokulungisa ezingafani i-MSH2, MLH1, MSH6, PMS2, noma i-base excision repair gene MUTYH.

Hlobo luni lokuhlolwa komdlavuza okufanele umuntu one-Moore-Torre syndrome alwenze njalo?

Kubaluleke kakhulu ukuthi abantu abanalesi sifo bahlolwe njalo umdlavuza , ngoba ukutholakala kusenesikhathi kwandisa amathuba okwelashwa okuphumelelayo. Ukuhlolwa odokotela abangase bakuncome kungafaka:

• I-Colonoscopy: Ukuhlolwa kwamathumbu amakhulu.
• I-endoscopy Ephezulu (EGD): Ukuhlolwa komphimbo, isisu, kanye nengxenye yokuqala yamathumbu amancane.
• Ukuhlolwa kwe-prostate ( kwabesilisa)
• I-Mammogram:Ukuhlolwa komdlavuza webele (kwabesifazane)
• Ukuhlolwa kwe-pelvic ( kwabesifazane)
• I-Pap smear: Ukuhlolwa komdlavuza wesibeletho (kwabesifazane)
• I-cytology yomchamo: Yemidlavuza yesistimu yomchamo.
• Ukuhlolwa kokusebenza kwesibindi
• Inani legazi eliphelele (i-CBC)
• Ukuhlolwa komzimba
• Ukuhlolwa kwesikhumba
• I-X-ray yesifuba

Udokotela wakho uzonquma ukuthi udinga ukwenza lezi zivivinyo kangaki.

Yiziphi izindlela zokwelapha i-Moore-Torre syndrome?

Umgomo oyinhloko wokuphatha i-Moore-Torre syndrome ukuthola nokususa umdlavuza uma kwenzeka . Kuzodingeka ukuthi uhlolwe njalo umdlavuza futhi uthathe ama-biopsy anoma yiziphi izicubu ezisolisayo. Uma udokotela wakho ethola umdlavuza, uzowelapha ngokohlobo lwawo kanye nesigaba sawo. Ukuhlinzwa ukuze kususwe umdlavuza kuvame ukuba yindlela yokuqala yokwelapha .

Ezinye izindlela zokwelapha umdlavuza zingafaka:

• Ukwelashwa ngamakhemikhali
• Ukwelashwa ngemisebe
• Ukwelashwa ngama-hormone
• Ukwelashwa nge-immunotherapy
• Ukwelashwa okuqondiwe
• Ukufakelwa umnkantsha wethambo

Ngaphezu kwalokho, i-retinoid yomlomo ebizwa ngokuthi i-isotretinoin ingasiza ekuvimbeleni ukwakheka kwezilonda zesikhumba ezintsha. Uma i-colonoscopy yakho ithola ama-polyp amaningi e-colon (asengozini enkulu yokuba nomdlavuza), udokotela wakho angase ancome i-prophylactic colectomy, ehilela ukususa ingxenye noma yonke i-colon yakho.

Kuyini ukubikezela kokuthola umuntu one-Moore-Torre syndrome?

Ukubikezela kwakho kuncike ekutheni zingaki izinhlobo zomdlavuza ozitholayo nokuthi zisakazeka kangakanani. Izibalo zibonisa ukuthi cishe ingxenye yabantu abane-Moore-Torre syndrome bathola izinhlobo ezingaphezu kowodwa zomdlavuza. Abangaphezu kwengxenye bathola umdlavuza osakazeke kwezinye izingxenye zomzimba futhi okunzima ukuwelapha).

Umdlavuza one-Moore-Torre syndrome uvame ukuvela cishe eminyakeni engu-50. Lo mdlavuza ungakhula futhi ube mubi kakhulu kunakubantu abaningi. Ngakho-ke, ukutholakala kusenesikhathi kubalulekile . Futhi, kunethuba elikhulu lokuthi umdlavuza uphinde ubuye ngisho nangemva kokuba usususiwe. Ngakho-ke, ukuhlolwa njalo ngemva kokwelashwa kubalulekile.

Ingabe ikhona indlela yokuvimbela lokhu?

Ngokuvamile akunjalo. Lokhu kungenxa yokuthi yisimo ozalwa naso. Kodwa-ke, akuwona wonke umuntu ozoba nezimpawu. Ngisho nalabo abathola izimpawu bangase bathinteke kakhulu yilesi sifo kunabazali babo. Ososayensi abakaqiniseki ukuthi kungani lokhu kwenzeka. Kodwa-ke, kuye kwaphawulwa ukuthi lesi simo singaba sibi kakhulu uma amasosha omzimba ebuthakathaka .

Ukwazi ukuthi unalolu shintsho lwezakhi zofuzo kungakusiza ukuthi wenze izinqumo ezithile zokuvimbela. Isibonelo, ukuhlolwa kwezakhi zofuzo kanye nokwelulekwa kwezakhi zofuzo kungakusiza ukuthi uvimbele ukudlulisela lesi simo ezinganeni zakho. Futhi, ukuqaphela lokhu kungakusiza ukuthi ubone umdlavuza kusenesikhathi futhi uqale ukwelashwa, uvimbele imiphumela emibi.

Nakuba i-Moore-Torre syndrome ingavamile, akulula ukubhekana nokuxilongwa okufana nalokhu. Kungabonakala kungaphezu kwamandla ukulwa nento efakwe ku-DNA yethu. Kodwa, ulwazi lungamandla . Ngokuqashelwa kanye nokwelashwa ngesikhathi esifanele, wena nodokotela wakho ningabhekana nale nselele.

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

Kulungile, ake sifingqe ezinye zezinto okudingeka uzikhumbule kulokho esikhulume ngakho:

• I-Muir-Torre Syndrome yisimo sofuzo esanda ingozi yokuthola izimila zesikhumba kanye nomdlavuza wangaphakathi (ikakhulukazi endleleni yokugaya ukudla).
• Uma ubona iqhubu elisha, elingavamile esikhumbeni sakho, ikakhulukazi esiqwini sakho, funa iseluleko sezokwelapha ngokushesha. Kungaba yinto engelutho, kodwa kungcono ukulihlola.
• Lolu uhlobo lwe-Lynch syndrome. Uma kukhona emndenini wakho onomlando womdlavuza, tshela udokotela wakho ngawo.
• Ukutholwa kusenesikhathi kanye nokuhlolwa njalo kubaluleke kakhulu. Lokhu kungasiza ekutholeni umdlavuza kusenesikhathi futhi kwelashwe ngempumelelo.
• Ukuhlolwa kwezakhi zofuzo kanye nokwelulekwa kungasiza ekunqumeni ukuthi lesi simo sikhona yini nokuthi siyawathinta yini amalungu omndeni.
• Ungesabi, kodwa qaphela. Awuwedwa, futhi odokotela bakhona ukuzokusiza.

Ngiyethemba ukuthi lolu lwazi luwusizo kuwe. Hlala uphilile!

I- Muir-Torre Syndrome, i-Lynch Syndrome, umdlavuza wesikhumba, izifo zofuzo, umdlavuza wesisu, ukuhlolwa komdlavuza, ukuguqulwa kwezakhi zofuzo