Yintoni iTurcot Syndrome? Ngaba ingakuchaphazela? Makhe sithethe ngokweenkcukacha!

Ngaba wakha weva ngesifo esingaqhelekanga semfuza? Ngamanye amaxesha, imizimba yethu inokuvelisa iingxaki esingazi nokuba sinazo. Namhlanje, siza kuthetha ngesinye sezifo ezingaqhelekanga ezibalulekileyo ukwazi ngaso. Sibizwa ngokuba yiTurcot Syndrome.

Yintoni iTurcot Syndrome ngokulula?

Ngamafutshane, iTurcot Syndrome yimeko engaqhelekanga yemfuza. Ibandakanya ikakhulu ukukhula kwamaqhuqhuva amancinci (abizwa ngokuba zii-polyps) kwinkqubo yethu yokugaya ukutya, oko kukuthi, emathunjini, kunye namaqhuqhuva ebuchotsheni okanye emgogodleni. Khawucinge ukuba kunokuba buhlungu kangakanani ukuba neengxaki kwiindawo ezimbini ngaxeshanye.

Xa ezi zihluma zincinci (iipolyps) zenzeka emathunjini, abanye abantu banokufumana iimpawu ezifana nokopha emqolo, ukunyuka kwentshukumo yamathumbu (isifo sorhudo), kunye nokuqaqamba kwesisu . Kwakhona, ngokuxhomekeke kubukhulu kunye nendawo yethumba ebuchotsheni okanye emgogodleni , iimpawu zemithambo-luvo ezifana neentloko ezibuhlungu, umbono ofipheleyo, ukulahlekelwa yibhalansi, kunye nokuwa rhoqo kunokwenzeka.

Abanye abaphandi bezonyango bakholelwa ukuba iTurcot Syndrome isenokuba lolunye uhlobo lweFamilial Adenomatous Polyposis (FAP). Nangona kunjalo, oku akukaqinisekiswa okwangoku. I-FAP ikwayimeko apho iipolyps ezininzi ezincinci zikhula khona kumathumbu amakhulu ngaphambi kokuba umhlaza uvele. Kusenokubakho unxibelelwano phakathi kwezi zimbini, njengoko ezinye izigulane zeTurcot Syndrome zinenguqu kwijini ye-APC. Utshintsho kwijini ye-APC lunokubangela i-FAP.

Oku kunqabile kangangokuba inani elincinci kakhulu lamatyala, malunga ne-150, axelwe kwiirekhodi zonyango kwihlabathi liphela. Ngoko unokucinga ukuba oku kunqabile kangakanani.

Ngaba esi sisifo esizuzwa njengelifa? Umntu usifumana njani?

Ewe, iTurcot Syndrome sisifo semfuza esizuzwe njengelifa, oko kuthetha ukuba sidluliselwa kubazali ukuya ebantwaneni ngeemfuza . Sibangelwa lutshintsho oluthile, okanye utshintsho oluthile kwiimfuza zethu. Sinokusichaphazela ngeendlela ezimbini eziphambili:

1. Uhlobo 1 lweTurcot Syndrome: Oku kwaziwa ngokuba yiTurcot syndrome "yokwenyani". Izuzwa njenge-autosomal recessive trait. Ngamafutshane, ukuze umntwana abe nale meko, bobabini abazali kufuneka bazuze i-gene mutation. Kufana nokuphumelela ilotho (kodwa oko akulunganga!). Olu hlobo ludla ngokubangelwa kukuguquka kwe-genes `(MLH1)` kunye `(PMS2)`.

2. Uhlobo lwesibini lweTurcutt Syndrome:Oku kuzuzwe njenge "autosomal dominant character." Oko kukuthi, umntwana unokufumana esi sifo nokuba ufumana i-gene mutation efanelekileyo kumzali omnye kuphela, nokuba ngumama okanye ngutata. Oku kubangelwa kukutshintsha kwe-gene ye "(APC)". Umsebenzi we-gene ye "(APC)" kukuthintela ukwakheka kwee-tumor ezinomhlaza emzimbeni wethu okanye ukuzithintela ekukhuleni kwazo. Ngoko ke xa loo gene ingasebenzi kakuhle, kuvela iingxaki.

Ziziphi iimpawu eziphambili zesi sifo?

Iimpawu eziphambili zeTurcot Syndrome, njengoko bekutshiwo ngaphambili , ziipolyps emathunjini kunye nethumba elinye okanye ngaphezulu ebuchotsheni okanye emgogodleni. Abanye abantu banokuba neepolyps ezininzi, oko kuthetha ukuba ziqala ukukhula besebancinci kakhulu.

Iimpawu zokukhula okuncinci (iipolyps) emathunjini

Inani lezi zihluma zincinci (iipolyps) ezikhula emntwini linokwahluka kumntu nomntu.

• Ezi polyps ezikhula kubantu abane- Type 1 Turcotte syndrome zinamathuba amaninzi okuba nomhlaza.
• Abantu abane -Type 2 Turcotte syndrome banamathuba amaninzi okufumana imeko ekhankanyiweyo ngaphambili ethi ``Familial Adenomatous Polyposis (FAP)``.

Ezi zihluma zincinci (iipolyps zamathumbu) ezenzeka emathunjini zinokubangela iimpawu ezifana nezi:

• Intlungu zesisu
• Ukuqhinwa
• Urhudo
• Ukopha emqolo
• Ukunciphisa umzimba, oko kukuthi, ukunciphisa umzimba

Iimpawu zeMihluma yoBuchopho/yoMgogodla

Iithumba ezikhula engqondweni okanye emgogodleni zinokuchaphazela inkqubo yethu yemithambo-luvo (CNS). Inkqubo yethu yemithambo-luvo yinkqubo elawula imisebenzi emininzi yomzimba, kuquka ingqondo kunye nomgogodleni. Oku kunokubangela iimpawu ezifana nezi:

• Ukulahlekelwa yibhalansi, ukuwa rhoqo (Iingxaki zebhalansi)
• Intloko ebuhlungu kakhulu
• Ukulahlekelwa zimvakalelo - ukungaziva kakuhle ezingalweni, emilenzeni, okanye kwiindawo zomzimba
• Isicaphucaphu okanye ukuhlanza
• Ukuxhuzula
• Iingxaki zokubona, kuquka ukubona kabini okanye ukubona okufipheleyo
• Ubuthathaka kwinxalenye ethile yomzimba wakho (umzekelo, ingalo enye, umlenze omnye, okanye icala elinye lomzimba wakho)

Ezinye iimpawu kunye neentlobo zomhlaza ezinomngcipheko ophezulu

Abantu abaneTurcot Syndrome ngamanye amaxesha baba neethumba ezinamafutha ezingezizo umhlaza (ii-lipomas) okanye amabala amancinci amdaka (ii-café-au-lait spots) eluswini .

Ukongeza, le meko inyusa umngcipheko wokufumana iintlobo ezithile zomhlaza kunye neethumba. Ezona ziphambili zezi:

• Umhlaza wamathumbu amakhulu
• I-Astrocytoma (uhlobo lwethumba lobuchopho)
• I-Ependymoma (uhlobo lwethumba oluqala kwiiseli ezijikeleze iindawo ezizele lulwelo zobuchopho kunye nomqolo)
• I-Glioma (iithumba ezivela kwiiseli ezixhasayo zobuchopho)
• I-Glioblastoma (uhlobo lomhlaza wobuchopho olunobundlongondlongo kakhulu)
• I-Medulloblastoma (uhlobo lomhlaza oluvela kwi-cerebellum, oko kukuthi, kwinxalenye esezantsi yobuchopho kufutshane nekhakayi)
• I-basal cell carcinoma yolusu

Sifunyaniswa njani esi sifo? (Ukuxilongwa)

Ukuze afumanise ukuba unayo na iTurcot Syndrome, ugqirha wakho uza kwenza uvavanyo oluninzi, ikakhulu ejonga ubuchopho bakho kunye neendawo ezijikeleze amathumbu akho.

• Uvavanyo olufana ne -X-ray, i-MRI, kunye ne-CT scans zingenziwa ukukhangela iithumba zobuchopho okanye ii-polyps zamathumbu. Kwezinye iimeko ezikhethekileyo, i-PET scan nayo ingacetyiswa.
• I-Colonoscopy: Oku kuquka ukufaka ityhubhu encinci, ekhanyisiweyo nge-anus ukuze kuhlolwe ngaphakathi kwamathumbu amakhulu kunye ne-rectum ukuba akukho nasiphi na isiphene.
• Uvavanyo lwe-biopsy: Ukuba kufunyenwe ithumba kumathumbu amakhulu okanye ebuchotsheni, kuthathwa iqhekeza elincinci lesicubu lize lihlolwe phantsi kwe-microscope.

Okubaluleke kakhulu, ukuba omnye wabazali bakho uneTurcot Syndrome, kunokwenzeka ukuba uhlolwe le meko.

Kwimeko enjalo, ugqirha unokucebisa izinto ezifana nezi:

• Uvavanyo lwe-DNA: Olu vavanyo lwe-genetic lunokufumanisa ubukho be-genes eziguqukileyo ezibangela i-Turcotte syndrome.
• I-Sigmoidoscopy: Le ihlola inxalenye esezantsi yamathumbu amakhulu (i-sigmoid colon). Abantu abaselula abazuze ilifa le-gene ye-Turcotte syndrome banokuqhubeka nokuhlolwa kwamathumbu amakhulu de babe neminyaka engama-35 ubudala. Oku kuvumela ukubonwa kwangethuba kunye nonyango lwezihluma ezincinci (ii-polyps) kumathumbu amakhulu.

Ziziphi iindlela zonyango lweTurcot Syndrome?

Unyango lweTurcot Syndrome luyahluka ngokuxhomekeke kwiimpawu.

Kusenokufuneka wenze i-polypectomy ukuze ususe amaqhuma amancinci (ii-polyps) kumathumbu amakhulu. Ugqirha wakho unokucebisa utyando oluninzi ukuze kuthintelwe la maqhuma ukuba angaphinde akheke. Umzekelo:

• `Ileoproctostomy`: Amathumbu amakhulu ayasuswa kwaye i-rectum kunye namathumbu amancinci zidibene.
• `Ileostomy`:I-rectum iyasuswa kwaye amathumbu amancinci aqhagamshelwe ngaphandle kwesisu (ukubonelela ngendlela eyahlukileyo yokuphuma kwendle).
• `Ileoanal anastomosis`: Idibanisa amathumbu amancinci kunye ne-anus.
• Ukususwa kwenxalenye okanye yonke ikholoni.
• `I-Proctocolectomy`: Zombini i-colon kunye ne-rectum ziyasuswa.

Unyango lwee-tumor ezikwingqondo okanye emgogodleni lunokwahluka. Oogqirha badla ngokuzama ukususa i-tumor. Ngexesha lonyango, bazama ukunciphisa umonakalo kwizicubu eziphilileyo ezijikelezileyo. Ukuze wenze oku:

• `Unyango lweKhemotheraphi`
• Unyango ngemitha
• Utyando

Iindlela zonyango ezifana nezi:

Ngaba nam ndisemngciphekweni wokufumana esi sifo?

Ukuba omnye wabazali bakho uneTurcot Syndrome, unethuba elikhulu lokufumana esi sifo. Okanye, usenokuba ngumxhasi wemfuza. Ukuba ngumxhasi wemfuza kuthetha ukuba awunazo iimpawu, kodwa unemfuza ebangela esi sifo, ngoko ke abantwana bakho banokusidlulisela kwabanye.

Ukuba ukrokrela ukuba usenokuba neTurcot Syndrome, ugqirha wakho unokucebisa uvavanyo lwe-DNA. Oku kunokujonga ukuba kukho utshintsho lwezakhi zofuzo olufanelekileyo.

Kwenzeka ntoni xa uphila nesi sifo? Ingaba asinyangeki?

Ngelishwa, akukho nyango lweTurcot Syndrome. Ukuba unale meko, eyona nto ibalulekileyo kukusebenza nogqirha wakho ukuze ufumane uvavanyo rhoqo lweethumba zobuchopho kunye nomhlaza we-colorectal. Okukhona ufumanisa into efana nomhlaza kwangethuba, kokukhona amathuba akho okuphumelela enyuka. Ngoko ke, kubalulekile ukuba ungoyiki kwaye ulandele icebiso likagqirha wakho.

Imibuzo ebalulekileyo yokubuza ugqirha wakho

Ungabuza ugqirha wakho imibuzo efana nale:

• Yintoni enokubangela iimpawu zam?
• Zeziphi iimvavanyo ekufuneka ndizenze ukuze ndiqiniseke ukuba ndineTurcot Syndrome?
• Ngaba ndingumthwali wejini yesi sifo?
• Ziziphi iindlela zonyango lweTurcot Syndrome?
• Yintoni enokwenzeka ukuba andifumani unyango?
• Ngawaphi amathuba okuba ndibe nomntwana oneTurcot Syndrome?

Khumbula, iithumba zobuchopho ezifana ne-glioblastoma aziqhelekanga ukuba zifuzwe. Nangona kunjalo, abantu abaneengxaki zofuzo ezifana neTurcot Syndrome banokuba nazo ngamanye amaxesha ezi thumba.

Okokugqibela, izinto ezimbalwa ekufuneka uzikhumbule

I-Turcot Syndrome sisifo esingaqhelekanga, esibangelwa yimfuza esibangela ukukhula okuncinci emathunjini (ii-polyps) kunye neethumba ebuchotsheni okanye emgogodleni. Unyango luyahluka ngokuxhomekeke kwiimpawu. Ungadinga utyando lokususa inxalenye yamathumbu akho okanye ithumba ebuchotsheni bakho okanye emgogodleni. Nangona kungekho nyango lwale meko, ukujonga iimpawu zakho, ukufumana uvavanyo rhoqo , kunye nokufumana unyango kwangethuba kunokukunceda ukulawula imeko yakho. Ke ngoko, kubalulekile ukukhathalela impilo yakho.

I- Turcot Syndrome, izifo zemfuza, ii-polyps zamathumbu amakhulu, iithumba zobuchopho, umngcipheko womhlaza, uvavanyo lwemfuza