Iyini i-Turcot Syndrome? Ingabe ingakuthinta? Ake sixoxe ngokuningiliziwe!

Wake wezwa ngesifo esingavamile sofuzo? Ngezinye izikhathi, imizimba yethu ingaba nezinkinga esingazi ngisho nokuthi sinazo. Namuhla, sizokhuluma ngesimo esisodwa esingavamile okubaluleke kakhulu ukwazi ngaso. Sibizwa ngokuthi i-Turcot Syndrome.

Iyini i-Turcot Syndrome kalula?

Kalula nje, i-Turcot Syndrome iyisimo esingavamile sofuzo. Ihilela kakhulu ukukhula kwezimila ezincane (ezibizwa nangokuthi ama-polyps) ohlelweni lwethu lokugaya ukudla, okungukuthi, emathunjini, kanye nezimila ebuchosheni noma emgogodleni. Cabanga ukuthi kungaba yinto ecasulayo kangakanani ukuba nezinkinga ezindaweni ezimbili ngesikhathi esisodwa.

Uma lezi zimila ezincane (ama-polyp) zenzeka emathunjini, abanye abantu bangase babe nezimpawu ezifana nokopha endulwini, ukunyakaza kwamathumbu okwandayo (uhudo), kanye nokuqaqamba kwesisu . Futhi, kuye ngobukhulu nendawo yesimila ebuchosheni noma emgogodleni , izimpawu zezinzwa ezifana nekhanda elibuhlungu, ukubona okufiphele, ukulahlekelwa ibhalansi, kanye nokuwa njalo .

Abanye abacwaningi bezokwelapha bakholelwa ukuthi i-Turcot Syndrome ingaba uhlobo lwe-Familial Adenomatous Polyposis (FAP). Kodwa-ke, lokhu akukafakazelwa okwamanje. I-FAP futhi iyisimo lapho ama-polyp amaningi amancane ekhula khona emathunjini ngaphambi kokuba umdlavuza uvele. Kungase kube nokuxhumana phakathi kwalokhu okubili, njengoba ezinye iziguli ze-Turcot Syndrome zine-mutation ku-APC gene. I-mutation ku-APC gene ingabangela ne-FAP.

Lokhu akuvamile kangangokuthi inani elincane kakhulu lamacala, cishe angu-150, abikwe kumarekhodi ezokwelapha emhlabeni wonke. Ngakho ungacabanga ukuthi lokhu kungavamile kangakanani.

Ingabe lesi isifo esidluliselwa ngofuzo? Umuntu usithola kanjani?

Yebo, i-Turcot Syndrome iyisifo esizuzwe njengefa, okusho ukuthi sidluliselwa kusuka kubazali kuya ezinganeni ngokusebenzisa izakhi zofuzo . Sibangelwa izinguquko ezithile, noma ukuguquka kwezakhi zofuzo zethu. Singasithinta ngezindlela ezimbili eziyinhloko:

1. I-Type 1 Turcot Syndrome: Lokhu kwaziwa nangokuthi i-Turcot syndrome "yeqiniso". Izuzwa njengesici se-autosomal recessive. Kalula nje, ukuze ingane ibe nalesi simo, bobabili abazali kumele bazuze i-gene mutation. Kufana nokuwina i-lottery (kodwa lokho akuyona into enhle!). Lolu hlobo luvame ukubangelwa izinguquko kuma-gene `(MLH1)` kanye ne-`(PMS2)`.

2. Uhlobo lwesibili lwe-Turcutt Syndrome:Lokhu kuzuzwa njengesici "esiyinhloko se-autosomal." Okusho ukuthi, ingane ingahlakulela lesi sifo noma ngabe izuza ukuguquka kwezakhi zofuzo okufanelekile kumzali oyedwa kuphela, kungaba umama noma ubaba. Lokhu kubangelwa ushintsho ku-gene ``(APC)```. Umsebenzi walesi sakhi sofuzo ``(APC)`` empeleni ukuvimbela ukwakheka kwezimila ezinomdlavuza emzimbeni wethu noma ukuzivimba ekukhuleni kwazo. Ngakho-ke lapho leso sakhi sofuzo singasebenzi kahle, kuvela izinkinga.

Yiziphi izimpawu eziyinhloko zalesi sifo?

Izimpawu eziyinhloko ze-Turcot Syndrome, njengoba kushiwo ngaphambili , ama-polyp emathunjini kanye nesimila esisodwa noma ngaphezulu ebuchosheni noma emgogodleni. Abanye abantu bangaba nala ma-polyp amaningi, okusho ukuthi aqala ukukhula esemncane kakhulu.

Izimpawu zokukhula okuncane (ama-polyp) emathunjini

Inani lalezi zimila ezincane (ama-polyp) ezikhula kumuntu lingahluka kumuntu nomuntu.

• La ma-polyp akhula kubantu abane -Type 1 Turcotte syndrome anamathuba amaningi okuba nomdlavuza.
• Abantu abane -Type 2 Turcotte syndrome banamathuba amaningi okuthola lesi simo esishiwo ngaphambilini esithi ``Familial Adenomatous Polyposis (FAP)``.

Lezi zimila ezincane (ama-polyp amathumbu) ezakheka emathunjini zingabangela izimpawu ezifana nalezi:

• Ubuhlungu besisu
• Ukuqunjelwa
• Uhudo
• Ukopha kwegazi endulo
• Ukwehlisa isisindo, okungukuthi, ukwehlisa isisindo

Izimpawu Zezimila Zobuchopho/Umgogodla

Amathumba akhula ebuchosheni noma emgogodleni angathinta uhlelo lwethu lwezinzwa oluphakathi (i-CNS). Uhlelo lwethu lwezinzwa oluphakathi luhlelo olulawula imisebenzi eminingi yomzimba, okuhlanganisa ubuchopho kanye nomgogodleni. Lokhu kungabangela izimpawu ezifana nalezi:

• Ukulahlekelwa ibhalansi, ukuwa njalo (Izinkinga zokulinganisela)
• Ubuhlungu bekhanda obukhulu
• Ukulahlekelwa umuzwa - ukungazweli ezingalweni, emilenzeni, noma ezingxenyeni zomzimba
• Isicanucanu noma ukuhlanza
• Ukuquleka
• Izinkinga zokubona, okuhlanganisa ukubona kabili noma ukubona okufiphele
• Ubuthakathaka engxenyeni eyodwa yomzimba wakho (isibonelo, ingalo eyodwa, umlenze owodwa, noma uhlangothi olulodwa lomzimba wakho)

Ezinye izici nezinhlobo zomdlavuza ezinengozi eyengeziwe

Abantu abane-Turcot Syndrome ngezinye izikhathi baba nezimila ezinamafutha ezingezona umdlavuza (ama-lipomas) noma amabala amancane ansundu (amabala e-café-au-lait) esikhumbeni .

Ngaphezu kwalokho, lesi simo sandisa ingozi yokuthola izinhlobo ezithile zomdlavuza kanye nezimila. Eziyinhloko yilezi:

• Umdlavuza wamathumbu amakhulu
• I-Astrocytoma (uhlobo lwesimila sobuchopho)
• I-Ependymoma (uhlobo lwesimila oluqala emangqamuzaneni azungeze izikhala ezigcwele uketshezi zobuchopho kanye nomgogodla)
• I-Glioma (izimila ezivela emaseli asekelayo obuchopho)
• I-Glioblastoma (uhlobo lomdlavuza wobuchopho olunamandla kakhulu)
• I-Medulloblastoma (uhlobo lomdlavuza oluvela ku-cerebellum, okungukuthi, engxenyeni engezansi yobuchopho eduze kogebhezi)
• I-basal cell carcinoma yesikhumba

Lesi sifo sitholakala kanjani? (Ukuxilongwa)

Ukuze anqume ukuthi une-Turcot Syndrome, udokotela wakho uzokwenza izivivinyo eziningana, ikakhulukazi ebheka ubuchopho bakho kanye nezindawo ezizungeze amathumbu akho.

• Ukuhlolwa okufana ne -X-ray, i-MRI, kanye ne-CT scan kungenziwa ukuze kubhekwe izimila zobuchopho noma ama-polyp amathumbu. Kwezinye izimo ezikhethekile, kunganconywa ne-PET scan.
• I-Colonoscopy: Lokhu kuhilela ukufaka ithubhu elincane, elikhanyisiwe nge-anus ukuze kuhlolwe ingaphakathi lamathumbu amakhulu kanye ne-rectum ukuze kutholakale noma yikuphi ukukhubazeka.
• Ukuhlolwa kwe-biopsy: Uma kutholakala isimila emathunjini noma ebuchosheni, kuthathwa ingxenye encane yezicubu bese ihlolwa ngaphansi kwe-microscope.

Okubaluleke kakhulu, uma omunye wabazali bakho ene-Turcot Syndrome, kungenzeka kakhulu ukuthi uhlolwe lesi simo.

Esimweni esinjalo, udokotela angase ancome izinto ezifana nalezi:

• Ukuhlolwa kwe-DNA: Lokhu kuhlolwa kwezakhi zofuzo kungabona ukuba khona kwezakhi zofuzo eziguqukile ezibangela i-Turcotte syndrome.
• I-Sigmoidoscopy: Lokhu kuhlola ingxenye engezansi yamathumbu amakhulu (i-sigmoid colon). Intsha ezuze ifa le-Turcotte syndrome ingaqhubeka nokuhlolwa kwamathumbu amakhulu ize ibe neminyaka engaba ngu-35 ubudala. Lokhu kuvumela ukutholakala kusenesikhathi kanye nokwelashwa kokukhula okuncane (ama-polyp) kumathumbu amakhulu.

Yiziphi izindlela zokwelapha i-Turcot Syndrome?

Ukwelashwa kwe-Turcot Syndrome kuyahlukahluka kuye ngezimpawu.

Kungase kudingeke ukuthi uhlinzwe nge-polypectomy ukuze kususwe amaqhubu amancane (ama-polyp) kumathumbu akho amakhulu. Udokotela wakho angase futhi ancome ukuhlinzwa okuningana ukuze kuvinjelwe lokhu kukhula ukuthi kungaphinde kwakheke. Isibonelo:

• `Ileoproctostomy`: Amathumbu amakhulu ayasuswa bese kuthi i-rectum kanye namathumbu amancane kuxhumene.
• `Ileostomy`:I-rectum iyasuswa bese kuthi amathumbu amancane axhunywe ngaphandle kwesisu (ukuze kuhlinzekwe indlela ehlukile yokuphuma kwendle).
• `Ileoanal anastomosis`: Ixhumanisa amathumbu amancane kanye nendunu.
• Ukususwa kwe-Colectomy: Ukususwa kwengxenye noma yonke ikholoni.
• `I-Proctocolectomy`: Kokubili ikholoni kanye ne-rectum kuyasuswa.

Ukwelashwa kwezimila ebuchosheni noma emgogodleni kungahlukahluka. Odokotela bavame ukuzama ukususa isimila. Ngesikhathi sokwelashwa, bazama ukunciphisa umonakalo ezicutshini ezinempilo ezizungezile. Ukuze wenze lokhu:

• `Ukwelashwa ngamakhemikhali`
• Ukwelashwa ngemisebe
• Ukuhlinzwa

Izindlela zokwelapha ezifana nalezi:

Ingabe nami ngisengozini yokuthola lesi sifo?

Uma omunye wabazali bakho ene-Turcot Syndrome, unethuba elikhulu lokuthola lesi simo. Noma, ungase ube ngumthwali wezakhi zofuzo. Ukuba ngumthwali wezakhi zofuzo kusho ukuthi awunazo izimpawu, kodwa unezakhi zofuzo ezibangela lesi simo, ngakho izingane zakho zingasidlulisela kwabanye.

Uma usola ukuthi kungenzeka ukuthi une-Turcot Syndrome, udokotela wakho angase akuncome ukuhlolwa kwe-DNA. Lokhu kungahlola ukuthi kukhona yini ukuguquka kwezakhi zofuzo okufanele.

Kwenzekani uma uphila nalesi sifo? Ingabe asilapheki?

Ngeshwa, ayikho ikhambi le-Turcot Syndrome. Uma unalesi simo, into ebaluleke kakhulu ukusebenzisana nodokotela wakho ukuze uthole ukuhlolwa njalo kwezimila zobuchopho kanye nomdlavuza we-colorectal. Uma usheshe uthole into efana nomdlavuza, kulapho amathuba akho okuphumelela eba ngcono khona. Ngakho-ke, kubalulekile ukungesabi futhi ulandele iseluleko sikadokotela wakho.

Imibuzo ebalulekile okufanele uyibuze udokotela wakho

Ungabuza udokotela wakho imibuzo efana nale:

• Yini okungenzeka kakhulu ukuthi iyimbangela yezimpawu zami?
• Yiziphi izivivinyo okufanele ngizenze ukuze ngazi ngokuqinisekile ukuthi ngine-Turcot Syndrome?
• Ingabe ngingumthwali wesakhi sofuzo salesi sifo?
• Yiziphi izindlela zokwelapha i-Turcot Syndrome?
• Yini engenzeka uma ngingatholi ukwelashwa?
• Angakanani amathuba okuba ngibe nengane ene-Turcot Syndrome?

Khumbula, izimila zobuchopho ezifana ne-glioblastoma azivamile ufuzo. Kodwa-ke, abantu abanezimo zofuzo ezifana ne-Turcot Syndrome ngezinye izikhathi bangahlakulela lezi zimila.

Okokugcina, izinto ezimbalwa okufanele uzikhumbule

I-Turcot Syndrome yisimo esingavamile, esibangelwa izakhi zofuzo esibangela ukukhula okuncane emathunjini (ama-polyp) kanye nezimila ebuchosheni noma emgogodleni. Ukwelashwa kuyahlukahluka kuye ngezimpawu. Ungadinga ukuhlinzwa ukuze kususwe ingxenye yamathumbu akho noma isimila ebuchosheni bakho noma emgogodleni. Nakuba kungekho ikhambi lalesi simo, ukuqapha izimpawu zakho, ukuthola izivivinyo njalo , kanye nokuthola ukwelashwa kusenesikhathi kungakusiza ukuphatha isimo sakho. Ngakho-ke, kubalulekile ukunakekela impilo yakho.

I -Turcot Syndrome, izifo zofuzo, ama-polyp amathumbu amakhulu, izimila zobuchopho, ingozi yomdlavuza, ukuhlolwa kofuzo