Turcot Syndrome ni iki? Ese ishobora kukugiraho ingaruka? Reka tuganire birambuye!

Ese wigeze wumva indwara idakunze kugaragara mu buryo bw'uturemangingo? Hari igihe imibiri yacu ishobora kugira ibibazo tutazi ko dufite. Uyu munsi, tugiye kuvuga ku ndwara imwe idakunze kugaragara cyane kandi ikomeye kumenya. Yitwa Turcot Syndrome.

Turcot Syndrome ni iki mu buryo bworoshye?

Muri make, indwara ya Turcot Syndrome ni indwara idakunze kugaragara mu buryo bw’uturemangingo. Iterwa ahanini n’ikura ry’uturemangingo duto (twitwa kandi polyps) mu buryo bw’igogora ryacu, ni ukuvuga mu mara, n’ibibyimba mu bwonko cyangwa mu ruti rw’umugongo. Tekereza ukuntu bishobora kubabaza kugira ibibazo ahantu habiri icyarimwe.

Iyo utu tunyangingo duto (polyps) twibasiwe mu mara, bamwe bashobora kugira ibimenyetso nko kuva amaraso mu mara, kwiyongera kw'impiswi (diarrhea), no kuribwa mu gifu . Nanone, bitewe n'ingano n'aho ikibyimba kiri mu bwonko cyangwa mu ruti rw'umugongo , ibimenyetso by'imitsi nko kuribwa umutwe, kutabona neza, gutakaza uburinganire, no kugwa kenshi bishobora kubaho.

Bamwe mu bashakashatsi mu by'ubuvuzi bemeza ko indwara ya Turcot Syndrome ishobora kuba ubwoko bwa Familyal Adenomatous Polyposis (FAP). Ariko, ibi ntibiragaragazwa neza. FAP ni indwara ituma ibice byinshi bito bikura mu mara mbere yuko kanseri itangira. Hashobora kuba hari isano hagati y’ibyo byombi, kuko bamwe mu barwayi ba Turcot Syndrome bafite impinduka muri gene ya APC. Impinduka muri gene ya APC nazo zishobora gutera FAP.

Ibi ni gake cyane ku buryo umubare muto cyane w’abarwayi, bagera ku 150, ari bo bagaragaye mu nyandiko z’ubuvuzi ku isi yose. Bityo rero ushobora kwiyumvisha ukuntu ibi ari gake cyane.

Ese iyi ndwara ni indwara umuntu avukana? Ni gute umuntu ayirwara?

Yego, Turcot Syndrome ni indwara y’uturemangingo ivukanwa, bivuze ko ihererekanywa ku babyeyi ijya ku bana binyuze mu turemangingo . Iterwa n’impinduka zimwe na zimwe, cyangwa impinduka, mu turemangingo twacu. Ishobora kutugiraho ingaruka mu buryo bubiri bw’ingenzi:

1. Ubwoko bwa 1 Turcot Syndrome: Iyi izwi kandi nka "true" Turcot syndrome. Iragwa nk'ikintu kigaragara mu maraso. Mu magambo make, kugira ngo umwana agire iyi ndwara, ababyeyi bombi bagomba kuragwa gene mutation. Ni nko gutsindira tombola (ariko ibyo si byiza!). Ubu bwoko bukunze guterwa n'impinduka mu magene `(MLH1)` na `(PMS2)`.

2. Indwara ya Turcutt yo mu bwoko bwa 2:Ibi biragwa nk'"ikintu gikomeye cya autosomal." Ni ukuvuga ko umwana ashobora kurwara iyi ndwara nubwo yaba yarazwe mutation ya gene ijyanye nayo iturutse ku mubyeyi umwe gusa, yaba nyina cyangwa se. Ibi biterwa n'impinduka muri gene ya ``(APC)``. Akamaro k'iyi gene ya ``(APC)`` ni ukurinda ivuka rya kanseri mu mubiri wacu cyangwa kuyibuza gukura. Rero iyo iyo gene idakora neza, havuka ibibazo.

Ni ibihe bimenyetso by'ingenzi by'iyi ndwara?

Ibimenyetso by'ingenzi bya Turcot Syndrome, nkuko byavuzwe mbere , ni polyps mu mara n'ikibyimba kimwe cyangwa byinshi mu bwonko cyangwa mu ruti rw'umugongo. Hari abantu bashobora kugira polyps nyinshi muri zo, bivuze ko zitangira gukura bakiri bato cyane.

Ibimenyetso by'uturemangingo duto (polyps) mu mara

Umubare w'izi ndunduro nto (polyps) zikura mu muntu ushobora gutandukana bitewe n'umuntu.

• Izi polyps zigaragara ku bantu bafite indwara ya Turcotte yo mu bwoko bwa 1 zishobora kurwara kanseri.
• Abantu bafite indwara ya Turcotte yo mu bwoko bwa 2 bafite amahirwe menshi yo kurwara indwara yavuzwe haruguru yitwa ``Familial Adenomatous Polyposis (FAP)``.

Utu tunyangingo duto (polyps zo mu mara) twibasira amara dushobora gutera ibimenyetso nk'ibi:

• Ububabare bwo mu nda
• Impatwe
• Impiswi
• Kuva amaraso mu maraso
• Kugabanya ibiro, ni ukuvuga kugabanya ibiro

Ibimenyetso by'ibibyimba byo mu bwonko/umugongo

Ibibyimba bikura mu bwonko cyangwa mu mugongo bishobora kugira ingaruka ku mikorere y’imitsi yacu (CNS). Imikorere y’imitsi yacu ni yo igenzura imikorere myinshi y’umubiri, harimo n’ubwonko n’umugongo. Ibi bishobora gutera ibimenyetso nka:

• Kubura uburinganire, kugwa kenshi (Ibibazo byo kuringaniza imiterere)
• Kuribwa umutwe cyane
• Kubura ibyiyumvo - gucika intege mu maboko, amaguru, cyangwa ibice by'umubiri
• Isesemi cyangwa kuruka
• Indwara zo mu mutwe
• Ibibazo byo kutabona neza, harimo no kutabona neza cyangwa kutabona neza
• Intege nke mu gice kimwe cy'umubiri wawe (urugero, ukuboko kumwe, ukuguru kumwe, cyangwa uruhande rumwe rw'umubiri wawe)

Ibindi biranga kanseri n'ubwoko bwayo bifite ibyago byinshi byo kurwara

Abantu barwaye indwara ya Turcot Syndrome rimwe na rimwe barwara ibibyimba by'ibinure bitari kanseri (lipomas) cyangwa utudomo duto tw'umukara (café-au-lait spots) ku ruhu .

Byongeye kandi, iyi ndwara yongera ibyago byo kurwara ubwoko bumwe na bumwe bwa kanseri n'ibibyimba. Iby'ingenzi ni ibi bikurikira:

• Kanseri y'umura munini
• Astrocytoma (ubwoko bwa kanseri yo mu bwonko)
• Ependymoma (ubwoko bwa kanseri itangirira mu turemangingo turi ku gice cyuzuyemo amazi mu bwonko no mu ruti rw'umugongo)
• Glioma (ibibyimba bikomoka ku turemangingo tw’ubwonko)
• Glioblastoma (ubwoko bwa kanseri y'ubwonko ikaze cyane)
• Medulloblastoma (ubwoko bwa kanseri itera mu bwonko, ni ukuvuga mu gice cyo hasi cy'ubwonko hafi y'agahanga)
• Kanseri y'uruhu yo mu bwoko bwa basal cell

Iyi ndwara ipimwa ite? (Isuzuma)

Kugira ngo amenye niba ufite indwara ya Turcot Syndrome, muganga wawe azakora ibizamini byinshi, cyane cyane areba ubwonko bwawe n'ibice bikikije amara yawe. Kuri ibi:

• Ibizamini nka X-rays, MRIs, na CT scans bishobora gukorwa kugira ngo harebwe kanseri yo mu bwonko cyangwa polyps zo mu mara. Mu bihe bimwe na bimwe byihariye, PET scan ishobora no gusabwa.
• Colonoscopy: Ibi bikubiyemo gushyiramo umuyoboro muto uca mu kibuno kugira ngo harebwe imbere mu mara manini no mu nda y'umura habe hakiri ikibazo icyo ari cyo cyose.
• Ikizamini cya Biopsy: Iyo habonetse ikibyimba mu mara cyangwa mu bwonko, hafatwa agace gato k'urugingo hanyuma kagasuzumwa hifashishijwe mikorosikopi.

Ikirenze ibyo, niba umwe mu babyeyi bawe afite indwara ya Turcot Syndrome, ushobora gupimwa indwara yawe.

Muri icyo gihe, muganga ashobora kukugira inama y'ibintu nk'ibi:

• Gupima ADN: Iki kizamini cya ADN gishobora kugaragaza ko hari imiterere y’uturemangingo twahindutse itera indwara ya Turcotte.
• Sigmoidoscopy: Iyi niyo isuzuma igice cyo hasi cy'amara manini (sigmoid colon). Urubyiruko rwarazwe gene ya Turcotte syndrome rushobora gukomeza gupimwa amara kugeza rumaze imyaka 35. Ibi bituma haboneka kandi hakavurwa udukoko duto (polyps) mu mara.

Ni ubuhe buryo bwo kuvura indwara ya Turcot Syndrome?

Uburyo bwo kuvura indwara ya Turcot Syndrome butandukana bitewe n'ibimenyetso.

Ushobora gukenera kubagwa polypectomy kugira ngo ukureho uduce duto (polyps) mu mara yawe. Muganga wawe ashobora kandi kukugira inama yo kubagwa inshuro nyinshi kugira ngo uhagarike iyi miterere yo kongera kubaho. Urugero:

• `Ileoproctostomy`: Urura runini rurakurwaho maze urura rw'inda n'urura ruto birahuzwa.
• `Ileostomy`:Agace k'umura karakurwaho maze amara mato agahuzwa n'inyuma y'inda (kugira ngo habeho uburyo butandukanye bwo gusohora umwanda).
• `Ileoanal anastomose`: Ihuza amara mato n'ikibuno.
• Gukuraho igice cy'amara cyangwa igice cy'amara yose.
• `Proctocolectomy`: Uduce twombi tw’amara n’utw’inyuma birakurwaho.

Uburyo bwo kuvura ibibyimba mu bwonko cyangwa mu ruti rw'umugongo bushobora gutandukana. Ubusanzwe abaganga bagerageza gukuraho ikibyimba. Mu gihe cyo kuvura, bagerageza kugabanya kwangirika kw'uturemangingo tuzima tuyikikije. Kugira ngo babigereho:

• 'Chimiotherapie'
• Ubuvuzi bushingiye ku mirasire
• Kubaga

Uburyo bwo kuvura nka:

Ese nanjye ndi mu kaga ko kurwara iyi ndwara?

Niba umwe mu babyeyi bawe afite indwara ya Turcot Syndrome, ufite amahirwe menshi yo kurwara iyi ndwara. Cyangwa, ushobora kuba ufite imiterere y’uturemangingo. Kuba ufite imiterere y’uturemangingo bivuze ko udafite ibimenyetso, ariko ufite imiterere y’uturemangingo itera iyo ndwara, bityo abana bawe bakabasha kuyindura.

Niba ukeka ko ushobora kuba ufite indwara ya Turcot Syndrome, muganga wawe ashobora kukugira inama yo gupima ADN. Ibi bishobora kugenzura niba hari ihinduka ry’uturemangingo.

Bigenda bite iyo ubana n'iyi ndwara? Ese ntabwo ikira?

Ikibabaje ni uko nta muti uhari wa Turcot Syndrome. Niba ufite iyi ndwara, icy'ingenzi ni ugukorana na muganga wawe kugira ngo bagupime buri gihe ibibyimba byo mu bwonko na kanseri y'inkondo y'umura. Uko ubonye kare ikintu nk'icya kanseri, ni ko amahirwe yawe yo kugira icyo ugeraho aba menshi. Rero, ni ngombwa kudatinya no gukurikiza inama za muganga wawe.

Ibibazo by'ingenzi ugomba kubaza muganga wawe

Ushobora kubaza muganga wawe ibibazo nk'ibi:

• Ni iyihe mpamvu ishoboka cyane y’ibimenyetso byanjye?
• Ni ibihe bipimo ngomba gukora kugira ngo menye neza niba mfite indwara ya Turcot Syndrome?
• Ese ndi umuntu utwara iyi gene y’iyi ndwara?
• Ni ubuhe buryo bwo kuvura indwara ya Turcot Syndrome?
• Ni iki gishobora kubaho ntabonye ubuvuzi?
• Ni amahirwe angahe yo kubyara umwana ufite indwara ya Turcot Syndrome?

Wibuke ko ibibyimba byo mu bwonko nka glioblastoma akenshi atari ibintu by’uruhererekane rw’abantu. Ariko, abantu bafite indwara z’uruhererekane nk’indwara ya Turcot Syndrome rimwe na rimwe bashobora kurwara ibi bibyimba.

Hanyuma, hari ibintu bike byo kwibuka

Turcot Syndrome ni indwara idakunze kugaragara, iterwa na genetiki, itera uduce duto mu mara (polyps) n'ibibyimba mu bwonko cyangwa mu ruti rw'umugongo. Ubuvuzi buratandukanye bitewe n'ibimenyetso. Ushobora gukenera kubagwa kugira ngo ukureho igice cy'amara yawe cyangwa ikibyimba mu bwonko cyangwa mu ruti rw'umugongo. Nubwo nta muti w'iyi ndwara uhari, gukurikirana ibimenyetso byawe, kwipimisha buri gihe , no kuvurwa hakiri kare bishobora kugufasha gucunga iyo ndwara yawe. Kubwibyo, ni ngombwa kwita ku buzima bwawe.

Turcot Syndrome, indwara z'uturemangingo, polyps zo mu mara, ibibyimba byo mu bwonko, ibyago byo kurwara kanseri, gupima imiterere y'uturemangingo