Ake sifunde nge-Lynch Syndrome, ekhulisa ingozi yakho yokuba nomdlavuza.

Wake wezwa ngegama elithi ``Lynch Syndrome''? Leli kungaba igama elisha kuwe. Kodwa kubalulekile kithi sonke ukulazi. Kalula nje, i-Lynch Syndrome yisimo esanda ingozi yokuba nomdlavuza ngenxa yezinguquko ezithile ezakhiweni zethu zofuzo. Ngokukhethekile, kwandisa ingozi yokuba nomdlavuza ngaphambi kweminyaka engu-50. Ngakho-ke, ake sixoxe ngalokhu ngemininingwane ethe xaxa, akunjalo?

Iyini ngempela i-Lynch Syndrome? Ngubani oyitholayo?

I-Lynch syndrome yisimo sofuzo esizuzwa njengefa . Okusho ukuthi, sibangelwa ukuguquka kwezakhi zofuzo esizizuza kumama noma kubaba. Cabanga ukuthi lapho amangqamuzana ethu ehlukana, ngezinye izikhathi kungenzeka amaphutha amancane. Imizimba yethu inezakhi zofuzo ezikhethekile ezithola futhi zilungise la maphutha. Lawa abizwa ngokuthi 'ama-Mismatch Repair genes' (ama-MMR genes). Umuntu one-Lynch syndrome unesici kwelinye noma ngaphezulu lala ma-'MMR' genes. Bese, amanye amaphutha awakwazi ukulungiswa lapho lawo maseli ehlukana. Lawa maseli alimele ayaqoqana abe umdlavuza .

Lokhu kungenzeka kunoma ubani. Ngoba kuyizakhi zofuzo. Ngezinye izikhathi, noma ngabe akekho emndenini oke waba nalesi simo ngaphambili, umuntu angasithola ngenxa yokuguquka kwezakhi zofuzo okungahleliwe. Lokhu kusho ukuthi ngoba nje kungekho mlando womndeni, akusho ukuthi ngeke kwenzeke.

Ngokwezibalo e-United States, cishe umuntu oyedwa kwabangu-279 angaba ne-Lynch syndrome. Kuthiwa cishe amacala angu-4,000 omdlavuza we-colorectal kanye namacala angu-1,800 omdlavuza we-endometrial abangelwa yi-Lynch syndrome minyaka yonke. Kubaluleke kakhulu ukuqaphela lesi simo naseSri Lanka.

Ziyini izimpawu ze-Lynch syndrome?

Izimpawu zingahluka kuye ngokuthi isimo sibucayi kangakanani kanye nohlobo lomdlavuza olusibangelayo. Izimpawu ezivame kakhulu zomdlavuza we-colorectal zifaka:

• Igazi esitulweni sakho.
• Ukuqunjelwa .
• Ubuhlungu besisu noma izinhlungu.
• Uhudo noma indle encane kunejwayelekile.
• Ukuzizwa njalo ukhathele kakhulu ('Ukukhathala').
• Ukuzizwa ugcwele noma ukhukhumele.
• Ukucanuzela noma ukuhlanza.

Into ebalulekile ukuthi abanye abantu bangase bangakhombisi zimpawu kuze kube yilapho umdlavuza usuqhubeke kakhulu. Ngakho-ke, uma unezinye zalezi zimpawu, kufanele ubonane nodokotela ngokushesha .

Yiziphi izinhlobo zomdlavuza ezingabangelwa yi-Lynch syndrome?

Lokhu kungathinta izitho eziningi zomzimba. Nazi ezinye izinhlobo zomdlavuza ezingabangelwa yi-Lynch syndrome:

• Umdlavuza wobuchopho
• Umdlavuza wamathumbu amakhulu kanye nomdlavuza wamathumbu amancane - Lona oyinhloko.
• Umdlavuza wenyongo
• Umdlavuza wesibindi
• Umdlavuza wesibeletho
• Umdlavuza we-pancreatic
• Umdlavuza we-prostate
• Umdlavuza wesikhumba
• Umdlavuza wamathumbu amancane
• Umdlavuza wesisu
• Umdlavuza womgudu womchamo ongaphezulu
• Umdlavuza wesibeletho (we-endometrial) - Olunye uhlobo lomdlavuza oluvame ukuhlasela abesifazane.

Uguquko lapho i-gene (`gene`) ikhona khona lunquma ukuthi yisiphi isitho esisengozini enkulu yokuba nomdlavuza. Kunezinhlobo ezinhlanu eziyinhloko ze-gene ezihlobene ne-Lynch syndrome. Lezi yi: `MLH1`, `MSH2`, `MSH6`, `PMS2` kanye ne-`EPCAM`.

Umdlavuza wamathumbu amakhulu obangelwa yi-Lynch syndrome ungakhula kusenesikhathi (kungakapheli iminyaka eyi-1-2) kunakubantu abaningi. Ngokuvamile kuthatha iminyaka eyi-10 ukuthi umdlavuza wamathumbu amakhulu ukhule. Futhi, umuntu oke waba nomdlavuza wamathumbu amakhulu usengozini enkulu yokuthola umdlavuza futhi . Kukhona cishe ingozi engu-15% zingakapheli iminyaka eyi-10 yokuhlinzwa komdlavuza wokuqala, cishe ingozi engu-40% zingakapheli iminyaka engama-20, kanye nengozi engu-60% ngemva kweminyaka engama-30.

Yini ebangela i-Lynch syndrome?

Njengoba kushiwo ngaphambili, imbangela eyinhloko yalokhu ukuguquka kwezakhi zofuzo kwelinye noma ngaphezulu kwezakhi zofuzo ezinhlanu ezilungisa amaphutha ku-DNA yethu (i-"mismatch repair gene" noma i-"MMR gene"). Lezo zakhi zofuzo ezinhlanu yilezi:

• `MLH1`
• `MSH2`
• `MSH6`
• `I-PMS2`
• `I-EPCAM`

Uma une-Lynch syndrome, izakhi zofuzo zakho ze-'MMR' azitholi imiyalelo eziyidingayo ukuze zisuse amangqamuzana alimele. Khona-ke lawo maseli alimele aqoqana ezicutshini futhi abangele umdlavuza.

Lokhu kuvela kanjani ezizukulwaneni ngezizukulwane?

I-Lynch syndrome iyisimo "esibizwa ngokuthi i-autosomal dominant". Kalula nje, noma ngabe umzali oyedwa kuphela one-gene eguquliwe, ingane ingayithola njengefa . Lokhu kusho ukuthi kunethuba elingu-50% lokuthi ingane nayo izoba nalesi simo.

Uma utholakale une-Lynch syndrome, kubalulekile ukwazisa amalungu omndeni wakho futhi ubakhuthaze ukuthi bafune ukwelulekwa ngofuzo . Ukwelulekwa ngofuzo kungakusiza wena nomndeni wakho niqonde isimo kanye nengozi yokuthi ingane yakho ithole lesi sifo njengefa. Ukuhlolwa kofuzo kungenziwa futhi ukuze kubonakale ukuthi une-Lynch syndrome gene mutation.

I-Lynch syndrome itholakala kanjani?

Udokotela wakho angaxilonga i-Lynch syndrome ngokuhlolwa kokuhlolwa kokukhulelwa kanye nokuhlolwa kofuzo. Ukuhlolwa kofuzo kungenziwa nangemva kokuzalwa komntwana wakho.

Ukuhlolwa kofuzo kuhilela ukuthatha isampula yegazi noma i-buccal swab ukuhlola ukuguquka kwezakhi zofuzo okukhulunywe ngazo ngaphambilini `MLH1`, `MSH2`, `MSH6`, `PMS2` noma `EPCAM`. Uma ukuhlolwa kofuzo kuqinisekisa ukuba khona kokuguquka okunjalo, udokotela uzoxilonga i-Lynch syndrome.

Yiziphi izivivinyo ezisetshenziswa ukuthola umdlavuza ohlotshaniswa ne-Lynch syndrome?

Uma kutholakale ukuthi une-Lynch syndrome, udokotela wakho uvame ukuncoma ukuhlolwa okuningana ukuze ahlole umdlavuza. Ukuhlolwa okuvame kakhulu yile:

• I-Colonoscopy: Lokhu kuhilela ukufaka ithubhu (i-scope) enekhamera exhunywe nge-anus ukuze kuhlolwe ingaphakathi lamathumbu amakhulu kanye ne-rectum. Lokhu kuvame ukwenziwa kanye ngonyaka noma njalo eminyakeni emibili.
• I-ultrasound ye-Transvaginal: Kufakwa ithuluzi elincane (i-probe) ngesitho sangasese sowesifazane ukuze kuhlolwe ama-ovari kanye nesibeletho. Lokhu kunconywa kanye noma kabili ngonyaka.
• Ukuhlolwa komchamo: Kuthathwa isampula yomchamo wakho ukuze kuhlolwe izinto ezifana nezimila zezinso. Lokhu kuvame ukwenziwa kanye ngonyaka.
• Ukuhlolwa kwe-tumor biopsy: Uma udokotela wakho esola ukuthi unesimila endaweni ethile emzimbeni wakho, uzothatha ingxenye yaso encane ayihlole elabhorethri ukuze abone ukuthi sinamangqamuzana omdlavuza yini.
• I-endoscopy ephezulu noma i-capsule endoscopy: Inqubo esebenzisa ithubhu elincane, elincane (i-scope) noma ikhamera encane (ithubhu elincane, elincane eligwinywa njengephilisi) ukubheka umdlavuza esiswini nasemathunjini amancane. Ungase ucelwe ukuba wenze lokhu njalo eminyakeni emithathu kuya kwemihlanu.

Iphathwa kanjani i-Lynch syndrome?

Isihluthulelo sokwelapha i-Lynch syndrome ukutholakala kusenesikhathi kanye nokususwa kwezimila ngokuhlinzwa . Lokhu kusho ukuhlolwa njalo nokuthola umdlavuza kusenesikhathi, uma ukhona.

Ubani ophatha lokhu?

Kungcono ukufuna ukwelashwa eqenjini lodokotela abangochwepheshe ngesimo esinjengalesi.Ngenxa yokuthi i-Lynch syndrome ingathinta izinhlelo eziningi zezitho zomzimba, ithimba lokwelapha lingafaka ochwepheshe abahlukahlukene, okuhlanganisa odokotela bezifo zamathumbu, odokotela abahlinzayo, odokotela bezifo zabesifazane, odokotela bezifo zomchamo, odokotela besikhumba, odokotela bezifo zabesifazane, odokotela bezifo zabesifazane, odokotela bezifo zabesifazane, odokotela bezifo zabesifazane, odokotela bezifo zabesifazane, odokotela bezifo zabesifazane, abeluleki bezifo zabesifazane, kanye nodokotela bezifo zabesifazane.

Ingabe umdlavuza ungabuya ngemva kokwelashwa?

Yebo, noma ngabe umdlavuza ususwe ngokuhlinzwa, kunethuba lokuthi umdlavuza uzobuya . Yingakho kubalulekile ukuqhubeka nokuhlolwa.

Abanye abantu abane-Lynch syndrome, ngenxa yokuthi basengozini enkulu yokuba nomdlavuza, banquma ukuhlinzwa ukuze kususwe isibeletho (hysterectomy), ama-ovari (oophorectomy), noma ingxenye yamathumbu (colectomy noma ukuhlinzwa kokususwa kwamathumbu) kusenesikhathi. Lesi yisinqumo somuntu siqu kakhulu, futhi kufanele senziwe ngeseluleko sikadokotela.

Ingabe i-Lynch syndrome ingavinjelwa?

Ngeshwa, i-Lynch syndrome iyisimo sofuzo, ngakho-ke ayinakuvinjelwa ngokuphelele . Kodwa-ke, abantu abane-Lynch syndrome bangahlolwa umdlavuza kukho konke ukuphila kwabo, kusukela ebudaleni, ukuze umdlavuza utholakale kusenesikhathi uma uvela .

Kwenzekani uma une-Lynch syndrome? Yini ongayilindela?

Okwamanje akukho ukwelashwa kwe-Lynch syndrome. Kodwa-ke, imiphumela emihle kakhulu itholakala uma umdlavuza utholakala futhi ususwa kusenesikhathi, ngaphambi kokuba usakazekele kwezinye izingxenye zomzimba . Ngakho-ke, kubaluleke kakhulu ukuthi abantu abane-Lynch syndrome benze izivivinyo zokuhlolwa minyaka yonke, njenge-colonoscopy.

Ingabe i-Lynch syndrome izobangela izimila emathunjini ami?

Abantu abane-Lynch syndrome bangase babe nama-'adenoma' amaningana, uhlobo lokukhula okungenawo umdlavuza emathunjini abo noma emathunjini. Uma lawa 'ma-polyp' engatholakali futhi engasuswa, angaba umdlavuza. Yingakho kubalulekile ukuba nama-colonoscopy avamile ukuze uwahlole futhi uwasuse uma ekhona.

Kufanele ngimbone nini udokotela?

Uma une-Lynch syndrome, kubalulekile ukuthi uhlolwe minyaka yonke futhi uhlolwe njalo .

Uma ubona noma yiziphi izigaxa, izimila ezintsha, noma izinguquko zesikhumba noma kuphi emzimbeni wakho, bona udokotela ngokushesha , ngoba lokhu kungaba izimpawu zomdlavuza.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

• Kufanele ngihlolwe kangaki umdlavuza?
• Ingabe leli qhubu lisemdlavuzeni wesikhumba sami?
• Yiluphi ushintsho lwezakhi zofuzo enginalo?
• Ngingakwazi yini ukuhlolwa kofuzo ngaphambi kokuba ngihlele ukukhulelwa?

Ingabe i-Lynch Syndrome ne-HNPCC ziyinto efanayo?

I-Lynch syndrome kanye ne-"Heroditary Non-Polyposis Colorectal Cancer" (``HNPCC``) ngezinye izikhathi zisetshenziswa ngokushintshana ukubhekisela esimweni esifanayo. Kodwa-ke, kunomehluko omncane phakathi kwalokhu okubili endleleni ezidluliselwa ngayo ezizukulwaneni ngezizukulwane.

I-Lynch syndrome ibangelwa ukuguquka kwezakhi zofuzo ze-`MMR`. Ukuguquka kwezakhi zofuzo okufanayo kuthinta nabantu abane-`HNPCC`. Kodwa-ke, igama elithi `HNPCC` linikezwa uma lesi simo senzeka ngomlando womndeni . Lokho kusho ukuthi `HNPCC` izuzwa njalo kusukela esizukulwaneni kuya kwesinye. I-Lynch syndrome ngezinye izikhathi ingenzeka ngaphandle kokuba noma ubani emndenini abe nayo, futhi ingenzeka nangenxa yokuguquka kwezakhi zofuzo okungahleliwe. Yingakho igama elithi Lynch syndrome manje selisetshenziswa kabanzi.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Akekho othanda ukuzwa amagama athi, "Unomdlavuza." Uma uthola ukuthi unesifo i-Lynch syndrome, kungase kudingeke uzwe lawo mazwi kudokotela wakho. Kodwa akudingeki kube yinto embi.

Uma usutholakale une-Lynch syndrome, udokotela wakho uzosebenza nawe ukuhlela ukuhlolwa okuvamile ukusiza ekutholeni umdlavuza kusenesikhathi. Ukutholwa nokwelashwa kusenesikhathi kuyindlela engcono kakhulu yokuthuthukisa amathuba akho okusinda . Ngemuva kwalokho ungaphila impilo ejabulisayo nenempilo.

Ngakho-ke, esikhundleni sokwesaba lolu lwazi, qaphela, funa iseluleko sezokwelapha uma kudingeka, futhi uzame ukuphila impilo enempilo . Uma kukhona emndenini wakho onalesi simo, kubaluleke kakhulu ukubazisa ngalokhu.

I- Lynch syndrome, i-HNPCC, umdlavuza, ukuguquka kwezakhi zofuzo, izifo ezizuzwe njengefa, umdlavuza wamathumbu amakhulu, umdlavuza wesibeletho