Dɛn ne Turcot Syndrome? So ebetumi aka wo? Momma yɛnkasa nkɔ akyiri!

So woate awosu mu yare bi a wɔntaa nhu ho asɛm pɛn? Ɛtɔ da bi a, yɛn nipadua tumi nya ɔhaw ahorow a yennim mpo sɛ yɛwɔ. Ɛnnɛ, yɛbɛka tebea biako a ɛntaa nsi a ɛho hia ankasa sɛ yehu ho asɛm. Wɔfrɛ no Turcot Syndrome a ɛyɛ mmerɛw.

Dɛn ne Turcot Syndrome kɛkɛ?

Sɛ yɛbɛka no tiawa a, Turcot Syndrome yɛ awosu mu yare a ɛntaa nsi. Nea ɛfa nneɛma nketenkete a enyin (a wɔsan frɛ no polyps) a ɛba yɛn aduan mu, kyerɛ sɛ, dwensɔtwaa mu, ne akisikuru a ɛba amemene anaa akyi berɛmo mu ho titiriw. Susuw sɛnea ebetumi ayɛ ahometew sɛ wubehyia ɔhaw ahorow wɔ mmeae abien prɛko pɛ no ho hwɛ.

Sɛ saa ntini nketenkete yi (polyps) ba dwensɔtwaa mu a, nnipa binom betumi anya sɛnkyerɛnne ahorow te sɛ mogya a ɛba wɔn akyi berɛmo mu, dwensɔtwaa a ɛkɔ soro (akisikuru), ne yafunu mu akisikuru . Afei nso, egyina sɛnea akisikuru no kɛse ne beae a ɛwɔ amemene anaa akyi berɛmo mu so , ntini mu sɛnkyerɛnne te sɛ tiyɛ, aniwa a ɛyɛ kusuu, sɛnea obi ntumi nkari pɛ, ne sɛnea ɔtaa hwe ase no betumi aba.

Aduruyɛ mu nhwehwɛmufo binom gye di sɛ ebia Turcot Syndrome yɛ Familial Adenomatous Polyposis (FAP) no fã bi. Nanso, wonnya nyɛɛ eyi ho adanse. FAP nso yɛ tebea a ɛma polyp nketenkete pii nyin wɔ akyi berɛmo no mu ansa na kokoram aba. Ebia abusuabɔ bi wɔ abien no ntam, efisɛ Turcot Syndrome ayarefo binom wɔ nsakrae bi wɔ APC awosu mu abɔde mu. Nsakrae a ɛba APC awosu mu abɔde mu nso betumi ama FAP aba.

Eyi ho yɛ na araa ma nnipa kakraa bi pɛ, bɛyɛ 150, na wɔabɔ amanneɛ wɔ aduruyɛ ho kyerɛwtohɔ ahorow mu wɔ wiase nyinaa. Enti wubetumi asusuw sɛnea eyi ho yɛ na no ho.

So eyi yɛ awosu mu yare? Ɔkwan bɛn so na obi nya bi?

Yiw, Turcot Syndrome yɛ awosu mu yare a wonya fi awo mu, a ɛkyerɛ sɛ ɛnam awosu mu de fi awofo hɔ kɔ mmofra nkyɛn . Ɛfiri nsakraeɛ bi, anaa nkwaadɔm mu nsakraeɛ bi a ɛba yɛn awosu mu nkwaadɔm mu. Ebetumi aka yɛn wɔ akwan titiriw abien so:

1. Type 1 Turcot Syndrome: Wɔsan frɛ eyi sɛ "nokware" Turcot syndrome. Wɔde fi awo mu sɛ autosomal recessive su. Sɛ yɛbɛka no tiawa a, sɛ abofra benya saa tebea yi a, ɛsɛ sɛ awofo baanu no nyinaa nya awosu mu nkwaadɔm mu nsakrae no fi awo mu. Ɛte sɛ nea woadi loto (nanso ɛno nyɛ ade pa!). Saa ɔkwan yi taa fi nkwaadɔm mu nsakrae a ɛba awosu mu nkwaadɔm `(MLH1)` ne `(PMS2)` mu.

2. Turcutt Yare a Ɛto so Abien:Eyi yɛ awo mu sɛ ``autosomal dominant trait.`` Ɛne sɛ, abofra betumi anya saa yare yi sɛ mpo wonya awosu mu nkwaadɔm mu nsakrae a ɛfa ho no fi ɔwofo biako pɛ hɔ, ɛna anaa agya no hɔ a. Eyi fi nsakrae a ɛba ``(APC)`` awosu mu abɔde mu. Saa ``(APC)`` gene yi dwumadie ne sɛ ɛbɛsi kokoram akisikuru a ɛbɛba yɛn nipadua mu no ano ankasa anaasɛ ɛbɛsiw ano. Enti sɛ saa awosu mu abɔde no ntumi nyɛ adwuma yiye a, ɔhaw ahorow sɔre.

Dɛn ne yare yi ho sɛnkyerɛnne atitiriw?

Turcot Syndrome ho sɛnkyerɛnne atitiriw ne sɛnea yɛadi kan aka no , polyps a ɛwɔ dwensɔtwaa mu ne akisikuru biako anaa nea ɛboro saa wɔ amemene anaa akyi berɛmo mu. Nnipa binom betumi anya saa polyps yi du du pii, a ɛkyerɛ sɛ wofi ase nya nkɔso wɔ wɔn mmofraase pɛɛ.

Nsɛnkyerɛnne a ɛkyerɛ sɛ nneɛma nketenkete anyin (polyps) wɔ dwensɔtwaa mu

Nneɛma nketenkete a enyin (polyps) yi dodow betumi ayɛ soronko wɔ onipa biara mu.

• Saa polyps yi a ɛba nnipa a wɔwɔ Type 1 Turcotte syndrome mu no taa bɛyɛ kokoram.
• Nnipa a wɔwɔ Type 2 Turcotte syndrome no taa nya tebea a yɛadi kan aka ho asɛm ``Familial Adenomatous Polyposis (FAP)`` no.

Saa nnua nketenkete a enyin (intestinal polyps) a ɛba dwensɔtwaa mu yi betumi de sɛnkyerɛnne ahorow te sɛ:

• Yafunu mu yaw
• Ayamtim
• Ayamtuo
• Mogya a ɛba akyi berɛmo mu
• Mu duru a wɔtew, kyerɛ sɛ, mu duru a wɔtew

Amemene/Akyi berɛmo mu Akisikuru Ho Nsɛnkyerɛnne

Akisikuru a ɛba amemene anaa akyi berɛmo mu no betumi aka yɛn ntini a ɛwɔ nipadua no mfinimfini (CNS). Yɛn ntini a ɛwɔ mfinimfini no ne nhyehyɛe a ɛhwɛ nipadua no dwumadi pii so, a amemene ne akyi berɛmo ka ho. Eyi betumi de yare no ho sɛnkyerɛnne te sɛ:

• Kari pɛ a ɛyera, ɔtaa hwe ase (Balance problems) .
• Ti a ɛyɛ yaw a emu yɛ den
• Nkate a ɛyera - a ɛyɛ mmerɛw wɔ nsa, nan, anaa nipadua no afã horow bi mu
• Akisikuru anaa ɔfe
• Akisikuru a ɛma obi ho kyere no
• Anisoadehu mu haw ahorow, a nea ɛka ho ne aniwa abien anaa aniwa a ɛyɛ kusuu
• Sɛ wote nka sɛ wo nipadua no fã biako (sɛ nhwɛso no, wo nsa biako, wo nan biako, anaa wo nipadua no fã biako) a, ɛbɛma woayɛ mmerɛw (Wo nipadua no fã biako yɛ mmerɛw) .

Su afoforo ne kokoram ahorow a asiane no kɔ soro

Ɛtɔ mmere bi a nnipa a wɔwɔ Turcot Syndrome no nya srade a ɛnyɛ kokoram (lipomas) anaasɛ nsensanee nketenkete a ɛyɛ bruu (café-au-lait nsensanee) wɔ wɔn honam ani .

Bio nso, saa tebea yi ma asiane a ɛwɔ hɔ sɛ obi benya kokoram ne akisikuru ahorow bi no yɛ kɛse. Wɔn titiriw ne:

• Kokoram a ɛwɔ akyi berɛmo mu
• Astrocytoma (amemene mu akisikuru bi) .
• Ependymoma (akisikuru bi a efi ase wɔ nkwammoaa a ɛhyehyɛ amemene ne akyi berɛmo mu mmeae a nsu ahyɛ mu ma no mu) .
• Glioma (akisikuru a efi amemene no nkwammoaa a ɛboa no mu ba) .
• Glioblastoma (amemene mu kokoram a ano yɛ den yiye) .
• Medulloblastoma (kokoram bi a ɛba amemene no mu, kyerɛ sɛ, amemene no ase fã a ɛbɛn ti nhwi no) .
• Basal cell carcinoma a ɛwɔ honam ani

Ɔkwan bɛn so na wohu yare yi? (Nyare a Wɔahu) .

Sɛnea ɛbɛyɛ na woahu sɛ wowɔ Turcot Syndrome no, wo duruyɛfo no bɛyɛ nhwehwɛmu pii, na ne titiriw no ɔbɛhwɛ w’amemene ne mmeae a atwa wo dwensɔtwaa ho ahyia no. Eyi nti:

• Wobetumi ayɛ nhwehwɛmu te sɛ X-ray, MRI, ne CT scan de ahwehwɛ amemene mu akisikuru anaa dwensɔtwaa mu polyps. Wɔ tebea titiriw bi mu no, wobetumi akamfo PET scan nso akyerɛ.
• Colonoscopy: Eyi hwehwɛ sɛ wɔde afiri ketewaa bi a hann wom fa akyi berɛmo no mu de hwehwɛ dwensɔtwaa kɛse no mu ne akyi berɛmo no mu hwɛ sɛ ebia biribiara nni hɔ a ɛnteɛ anaa.
• Biopsy test: Sɛ wohu akisikuru bi wɔ akyi berɛmo anaa amemene no mu a, wɔfa ntini ketewaa bi na wɔde afiri a wɔde hwɛ nneɛma nketenkete hwehwɛ mu.

Nea ɛho hia sen biara no, sɛ w’awofo no mu biako wɔ Turcot Syndrome a, ɛda adi sɛ wɔbɛhwehwɛ wo mu ahwɛ sɛ ebia ɔwɔ tebea no anaa.

Wɔ tebea a ɛte saa mu no, oduruyɛfo no betumi akamfo nneɛma te sɛ:

• DNA nhwehwɛmu: Saa awosu mu nhwehwɛmu yi tumi hu sɛ awosu mu nkwaadɔm a wɔayɛ no foforo a ɛde Turcotte yare ba no wɔ hɔ.
• Sigmoidoscopy: Eyi hwehwɛ dwensɔtwaa kɛse no fã a ɛwɔ fam (sigmoid colon). Mmabun a wɔanya Turcotte yare no awosu mu nkwaadɔm no betumi akɔ so ayɛ wɔn akyi berɛmo mu nhwehwɛmu kosi sɛ wobedi bɛyɛ mfe 35. Eyi ma wotumi hu nneɛma nketenkete a enyin (polyps) wɔ akyi berɛmo no mu ntɛm na wɔsa.

Dɛn ne ayaresa ahorow a wɔde sa Turcot Syndrome?

Turcot Syndrome ayaresa gu ahorow gyina sɛnkyerɛnne ahorow no so.

Ebia ɛho behia sɛ wotwa polypectomy na ama woyi nneɛma nketenkete a enyin (polyps) wɔ wo dwensɔtwaa mu. Ebia wo duruyɛfo nso bɛkamfo akyerɛ sɛ wɔnyɛ oprehyɛn mpɛn pii na ama saa nyini yi ansiw bio. Nhwɛsoɔ:

• `Ileoproctostomy`: Woyi dwensɔtwaa kɛse no na wɔde akyi berɛmo ne dwensɔtwaa ketewa no bom.
• `Ileostomy`: 1.Woyi akyi berɛmo no na wɔde dwensɔtwaa ketewa no bata yafunu no akyi (na ama wɔanya ɔkwan soronko a nsu bɛfa so atɔ mu).
• `Ileoanal anastomosis`: Ɛka dwensɔtwaa ketewa ne akyi berɛmo no bom.
• Colectomy: Woyi akyi berɛmo no fã bi anaa ne nyinaa fi hɔ.
• `Proctocolectomy`: Woyi akyi berɛmo ne akyi berɛmo nyinaa fi hɔ.

Ɛsono sɛnea wɔsa akisikuru a ɛwɔ amemene anaa akyi berɛmo mu. Mpɛn pii no, nnuruyɛfo bɔ mmɔden sɛ wobeyi akisikuru no afi hɔ. Bere a wɔreyɛ ayaresa no, wɔbɔ mmɔden sɛ wɔbɛtew ntini a ɛwɔ apɔwmuden a atwa ho ahyia no so. Sɛ wobɛyɛ eyi a:

• `Nnuru a wɔde sa yare`
• Mframa a wɔde sa yare
• Sɛɛgyiri

Akwan a wɔfa so sa yare te sɛ:

So me nso mewɔ asiane mu sɛ menya saa yare yi?

Sɛ w’awofo mu biako wɔ Turcot Syndrome a, wowɔ hokwan kɛse sɛ wubenya tebea no. Anaasɛ, ebia woyɛ obi a ɔde awosu mu nneɛma kɔ. Sɛ́ woyɛ awosu mu nneɛma a ɛde ɔyare no ba no kyerɛ sɛ wunni yare no ho sɛnkyerɛnne, nanso wowɔ awosu mu nkwaadɔm a ɛde tebea no ba, enti wo mma betumi de akɔma afoforo.

Sɛ wususuw sɛ ebia wowɔ Turcot Syndrome a, ebia wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ DNA nhwehwɛmu. Eyi betumi ahwɛ sɛ awosu mu nkwaadɔm mu nsakrae a ɛfata no wɔ hɔ anaa.

Sɛ wo ne yare yi te ase a, dɛn na ɛba? So ɛyɛ nea wontumi nsa?

Nea ɛyɛ awerɛhow no, wonni Turcot Syndrome aduru biara. Sɛ wowɔ saa tebea yi a, nea ɛho hia sen biara ne sɛ wo ne wo duruyɛfo bɛyɛ adwuma na wɔayɛ nhwehwɛmu daa wɔ amemene mu akisikuru ne kokoram a ɛwɔ akyi berɛmo mu ho. Dodow a wuhu biribi te sɛ kokoram ntɛm no, dodow no ara na hokwan a wowɔ sɛ wubefi mu aba no yɛ kɛse. Enti, ɛho hia sɛ woremmɔ hu na wudi wo duruyɛfo afotu akyi.

Nsɛmmisa a ɛho hia a ɛsɛ sɛ wubisa wo duruyɛfo

Wubetumi abisa wo duruyɛfo nsɛm bi te sɛ eyinom:

• Dɛn na ɛda adi sɛ ɛde me yare no ho sɛnkyerɛnne ahorow ba?
• Nhwehwɛmu bɛn na ɛsɛ sɛ meyɛ na ama mahu sɛ mewɔ Turcot Syndrome anaa?
• So meyɛ obi a ɔwɔ awosu mu abɔde a ɛde yare yi ba?
• Dɛn ne ayaresa a wobetumi apaw ama Turcot Syndrome?
• Sɛ mannya ayaresa a, dɛn na ebetumi asi?
• Hokwan ahorow bɛn na ɛwɔ hɔ sɛ mɛwo abofra a ɔwɔ Turcot Syndrome?

Kae sɛ amemene mu akisikuru te sɛ glioblastoma ntaa fi awosu mu. Nanso, ɛtɔ mmere bi a nnipa a wɔwɔ awosu mu tebea horow te sɛ Turcot Syndrome betumi anya saa akisikuru yi.

Awiei koraa no, nneɛma kakraa bi a ɛsɛ sɛ wokae

Turcot Syndrome yɛ awosu mu tebea a ɛntaa nsi a ɛma dwensɔtwaa nketenkete (polyps) nyin na ɛma akisikuru ba amemene anaa akyi berɛmo mu. Ɛsono ayaresa a wɔde ma no gyina sɛnkyerɛnne ahorow no so. Ebia ebehia sɛ wɔyɛ wo oprehyɛn de yi wo dwensɔtwaa no fã bi anaa akisikuru bi a ɛwɔ w’amemene anaa w’akyi berɛmo mu. Ɛwom sɛ wonni saa tebea yi ano aduru de, nanso sɛ wohwɛ wo yare no ho sɛnkyerɛnne ahorow so, woyɛ nhwehwɛmu daa , na woyɛ ayaresa ntɛm a, ebetumi aboa wo ma woadi wo tebea no ho dwuma. Enti, ɛho hia sɛ wohwɛ w’akwahosan so.

Turcot Syndrome, awosu mu nyarewa, dwensɔtwaa mu polyps, amemene mu akisikuru, kokoram ho asiane, awosu mu nhwehwɛmu