So woate abusua abakɔsɛm a ɛfa kokoram ho pɛn? Anaasɛ aberante bi a ɔrenya kokoram a ɛtaa ka nnipa a wɔn mfe akɔ anim? Ɛtɔ da bi a, ebia ntease bi wɔ saa nneɛma yi akyi a yennim. Ɛno ne nea yɛbɛka ho asɛm nnɛ, awosu mu tebea a ɛntaa nsi a ɛkɔ so wɔ mmusua mu na ɛma kokoram ho asiane yɛ kɛse. Wɔfrɛ no Li-Fraumeni Syndrome.
Sɛ yɛbɛka no tiawa a, dɛn ne Li-Fraumeni Syndrome?
Eyi yɛ awosu mu tebea a ɛntaa nsi koraa. Ɛnam awosu mu nkwaadɔm a ɛwɔ yɛn nipadua mu no biako mu nsakrae so na ɛba. Saa awosu mu nsakrae yi ma hokwan anaa asiane a ɛwɔ hɔ sɛ wo ne w’abusua benya kokoram biako anaa nea ɛboro saa no yɛ kɛse.
Susuw eyi ho: Obi a ɔwɔ saa tebea yi wɔ hokwan 90% sɛ obenya kokoram bere a wadi mfe 60. Na, nnipa yi mu bɛyɛ fã nya kokoram ansa na wɔadi mfe 40. Titiriw no, mmea a wɔwɔ Li-Fraumeni Syndrome no wɔ hokwan a ɛkame ayɛ sɛ 100% sɛ wobenya nufu mu kokoram wɔ wɔn nkwa nna mu.
Ebia eyi bɛyɛ te sɛ nea ɛyɛ hu kakra. Nanso ade a ɛho hia ne sɛ ɛwom sɛ yentumi nsiw tebea yi ano de, nanso sɛ yɛbɛyɛ kokoram ho nhwehwɛmu ntɛm na yɛayɛ daa na yɛanya ayaresa a ɛho hia so , yebetumi asiw nkɛntɛnso a enya wɔ yɛn asetra so no ano kɛse.
Saa tebea yi abu so dɛn?
Li-Fraumeni Syndrome yɛ tebea a ɛntaa nsi koraa. Nhwehwɛmufo ahu mmusua bɛyɛ 1,000 pɛ wɔ wiase nyinaa a wɔwɔ saa awosu mu nsakrae yi. Enti ɛho nhia sɛ yesuro a ɛho nhia.
Dɛn ne Li-Fraumeni Syndrome ho sɛnkyerɛnne ahorow?
Ade titiriw a ɛwɔ ha ne sɛ sɛnkyerɛnne pɔtee biara nni hɔ a ɛbata tebea a wɔfrɛ no Li-Fraumeni Syndrome no ho. Ɛne sɛ, obi a ɔwɔ saa tebea yi nhu nsakrae biara wɔ akyi.
Enti wobɛyɛ dɛn ahu eyi? Tebea yi ho sɛnkyerɛnne titiriw ne kokoram ahorow bi a ɛba wɔ ne mmofraase . Enti, sɛnkyerɛnne a wubehu no begyina kokoram ko a wowɔ no so. Sɛ nhwɛso no, amemene mu kokoram bɛda sɛnkyerɛnne ahorow a ɛfa saa ho adi, na nufu mu kokoram nso bɛda sɛnkyerɛnne ahorow a ɛfa saa ho adi.
Kokoram ahorow bɛn na wɔtaa de bata tebea yi ho?
Wɔde kokoram ahorow bɛboro du abata Li-Fraumeni Syndrome ho. Kokoram ahorow bi abu so wɔ nnipa a wɔwɔ tebea no mu araa ma wɔfrɛ no "kokoram atitiriw." Momma yɛnhwɛ nea wɔyɛ.
| Kokoram kuw | Nkyerɛmu |
|---|---|
| Kokoram Titiriw | |
| Sarcomas a ɛwɔ nipadua no mu | Kokoram a ɛba nnompe mu (Osteosarcoma) ne ntini a ɛyɛ mmerɛw (Soft Tissue Sarcoma). |
| Nufu mu Kokoram | Mmea a wɔwɔ saa tebea yi wɔ asiane mu wɔ wɔn nkwa nna nyinaa mu sɛ wobenya bi. |
| Amemene mu Kokoram | Eyi ka ahorow ahorow te sɛ Gliomas, Choroid Plexus Carcinoma, ne Medulloblastoma ho. |
| Adrenocortical Kokoram a Ɛwɔ Adrenocortical Kokoram | Kokoram a ɛba wɔ adrenal glands no akyi fã a ɛwɔ yɛn asaabo atifi no mu. |
| Leukemia a ɛma mogya tu | Nea ɛka eyi ho ne mogya mu kokoram a emu yɛ den, mogya mu nkwammoaa mu kokoram. |
| Kokoram afoforo a ɛntaa nni abusuabɔ | |
| Kokoram a ɛwɔ akyi berɛmo mu, Asaabo mu kokoram, Lymphoma, Ahurututu mu kokoram, Awotwaa mu kokoram, Dwonku mu kokoram, Prostate kokoram, Honam ani kokoram, Yafunu mu kokoram, Awotwaa mu kokoram, Thyroid kokoram. | |
Dɛn nti na tebea yi ba?
Sɛ yɛbɛte nea enti a ɛte saa ase a, ɛsɛ sɛ yehu awɛmfo ketewaa bi a ɛwɔ yɛn nipadua mu ho asɛm. Yɛwɔ awosu mu abɔde bi a wɔfrɛ no TP53 . Ɛte sɛ "ɔwɛmfo ɔbɔfo" wɔ yɛn nipadua mu. Dwuma titiriw a saa awosu mu abɔde yi yɛ ne sɛ ɛbɛma nkwammoaa a ɛwɔ yɛn nipadua mu no annyin wɔ ɔkwan a ɛnteɛ so na wontumi nni so na abɛyɛ akisikuru.
Wɔfrɛ protein a TP53 awosu mu abɔde yi yɛ no P53 protein. Eyi ne nea ɛyɛ saa awɛmfo adwuma no ankasa.
Afei, nea ɛto obi a ɔwɔ Li-Fraumeni Syndrome ne sɛ nsakrae, anaa nsakrae bi ba awosu mu abɔde a ɛbɔ ho ban a wɔfrɛ no TP53 no mu . Nea ɛba ne sɛ awosu mu abɔde no ntumi nyɛ P53 protein a ɛyɛ adwuma yiye no. Sɛ saa awosu mu abɔde a ɛbɔ ho ban yi yera a, nkwammoaa no fi ase kyekyɛ a wontumi nni so. Ɛno na ɛkɔ so yɛ kokoram.
Mpɛn pii no, abofra nya TP53 awosu mu abɔde a ɛtɔ sin yi fi wɔn awofo hɔ. Wɔfrɛ eyi sɛ Autosomal Dominant Pattern . Sɛ yɛbɛka no tiawa a, sɛ ɔwofo biako pɛ na onya saa awosu mu abɔde a ɛtɔ sin yi mpo a, sɛ́ ɛyɛ ɛna no anaa agya no a, abofra no da so ara betumi anya tebea no na wanya kokoram ho asiane kɛse .
Nanso, ɛntaa mma koraa sɛ saa awosu mu nsakrae yi betumi aba obi nipadua mu a abusua no mu biara nni saa tebea yi. Wɔfrɛ eyi sɛ De Novo Mutation.
Ɔkwan bɛn so na wohu tebea yi?
Nnuruyɛfo de awosu mu nhwehwɛmu di dwuma de hu tebea no. Nanso ansa na wɔbɛyɛ saa no, wɔbɛhwɛ wo ne w’abusua aduruyɛ ho abakɔsɛm mu yiye. Nneɛma pii nti na oduruyɛfo betumi asusuw sɛ Li-Fraumeni Syndrome:
- Sɛ wɔahu sɛ wowɔ sarcoma kokoram ansa na woadi mfe 45 a.
- Sɛ w’abusuafo a wodi kan no mu biako (awofo, anuanom, mmofra) anya kokoram biara ansa na wadi mfe 45 a.
- Sɛ w’abusuafo a wɔwɔ dibea a ɛto so abien no mu biara (nananom, maame nuabeanom, wo papa nuabeanom, ne nuabeanom mma, ne nuabeanom mma) anya kokoram biara ansa na wadi mfe 45 a.
Sɛ wodu saa gyinapɛn ahorow yi mu biako anaa nea ɛboro saa ho a, oduruyɛfo no betumi de wo akɔma wɔnkɔyɛ awosu mu nhwehwɛmu.
Sɛ wohu sɛ wowɔ saa tebea yi a, ade a edi hɔ a ɛho hia sen biara ne sɛ wobɛyɛ kokoram nhwehwɛmu nhyehyɛe ho adwuma. Ɛdenam wo duruyɛfo a wobɛkɔ akɔhwɛ wo daa na woayɛ nhwehwɛmu so no, wobetumi ahu kokoram biara a ɛba no na wɔasa no ntɛm ara .
Ɔkwan bɛn so na wɔsa?
Ayaresa pɔtee biara nni hɔ a wɔde sa awosu mu tebea a wɔfrɛ no Li-Fraumeni Syndrome no. Nnuruyɛfo sa kokoram a efi tebea no mu ba no. Ayaresa ahorow no te sɛ nea wɔde ma obi a onni yare no koraa. Eyinom bi ne oprehyɛn ne nnuru a wɔde sa yare.
Nanso biribi a ɛho hia yiye wɔ hɔ a ɛyɛ soronko wɔ ha.
Nnipa a wɔwɔ Li-Fraumeni Syndrome no te nka kɛse wɔ mframa a ɛbɔ ho. Enti, asiane wɔ hɔ sɛ kokoram foforo bɛba bere a wɔde mframa a wɔde sa yare no di dwuma no. Esiane eyi nti, wo duruyɛfo no bɛbɔ mmɔden sɛ ɔbɛkwati anaasɛ ɔbɛtew mframa a wɔde sa wo so sɛ wunya kokoram a.
Dɛn na ɛsɛ sɛ wohwɛ kwan bere a wo ne tebea yi te ase no?
Nim a wunim sɛ wowɔ Li-Fraumeni Syndrome no kyerɛ sɛ ɛsɛ sɛ wo ne w’abusua yɛ adwuma wɔ kokoram nhwehwɛmu nhyehyɛe a wɔyɛ no daa so. Nhwehwɛmu ada no adi sɛ nhwehwɛmu a wɔyɛ no daa no ma hokwan a ɛwɔ hɔ sɛ wobegye nnipa yi nkwa no yɛ kɛse kɛse .
Ɛsono sɔhwɛ nhyehyɛe ahorow yi ma mmofra ne mpanyimfo. Nea edidi so yi yɛ nhwɛso ara kwa. Wo duruyɛfo no bɛyɛ nhyehyɛe bi a ɛfata wo.
| Mfe a wɔadi | Bere mu nsonsonoe | Sɔhwɛ ahorow a ɛsɛ sɛ wɔyɛ |
|---|---|---|
| Wɔ mmofra (a wɔadi mfe 18) fam no . | ||
| Ɛkɔsi mfeɛ 18 | Asram 3-4 biara | Nipadua mu nhwehwɛmu a edi mũ ne yafunu mu ultrasound scan. |
| Pɛnkoro afe biara | Amemene mu MRI mfonini ne nipadua mũ no nyinaa MRI mfonini. | |
| Wɔ mpanyimfo fam | ||
| Mpanyimfo | Asram 6 biara | Ma oduruyɛfo nkɔhwɛ wo nufu mu (efi mfe 20-25). |
| Pɛnkoro afe biara | Nipadua mu nhwehwɛmu, nufu mu MRI, amemene ne nipadua mũ no nyinaa MRI, yafunu ne akyi berɛmo mu ultrasound scan, honam ani nhwehwɛmu a wɔyɛ de hwɛ honam ani kokoram. | |
| Mfeɛ 2-3 biara | Colonoscopy ne Upper Endoscopy sɔhwɛ ahorow. | |
So wontumi nsiw tebea yi ano?
Ɔkwan biara nni hɔ a wɔbɛfa so asiw awosu mu tebea a wɔfrɛ no Li-Fraumeni Syndrome no ano. Ɛyɛ biribi a ɛne yɛn awosu mu nkwaadɔm ba. Nanso wubetumi akwati nneɛma a ɛma asiane a ɛwɔ hɔ sɛ wubenya kokoram no yɛ kɛse.
- Kwati sigaretnom koraa.
- Kwati nsa a wobɛnom boro so .
- Sɛ worekɔ owia mu a, ntra abɔnten nkyɛ dodo a wunhia ahobammɔ te sɛ aduru a wɔde bɔ wo ho ban fi owia ho .
Wɔyɛ mmea binom oprehyɛn yi wɔn nufu abien no nyinaa ansa na kokoram aba na ama asiane a ɛwɔ hɔ sɛ wobenya nufu mu kokoram no so atew. Wɔfrɛ eyi nufu a wɔde siw ano .
Sɛ wɔyɛ ahwɛyiye yi nyinaa mpo a, obi a ɔwɔ saa tebea yi betumi anya kokoram. Ɛno nti na ade a eye sen biara a ɛsɛ sɛ woyɛ ne sɛ wobɛkɔ akɔyɛ nhwehwɛmu daa na sɛ ɛba a, wobɛkyere kokoram ntɛm.
Wobɛyɛ dɛn ahwɛ wo ho ne w’abusua?
Sɛ obi ne nkwa nna nyinaa tebea te sɛ eyi bɛtra ase a, ebetumi ayɛ den wɔ nipadua ne adwene mu.
1. Mma nhwehwɛmu nmpa wo ti so: Di kokoram nhwehwɛmu nhyehyɛe a wɔkamfo kyerɛ no akyi pɛpɛɛpɛ.
2. Abusua nhyehyɛe: Sɛ woreyɛ nhyehyɛe sɛ wobɛwo mma a, ɛho hia paa sɛ wo ne awosu ho ɔfotufo bi kasa. Ɛsɛ sɛ wote asiane a ɛwɔ awosu mu abɔde a asɛe yi a wode bɛma abofra no ase.
3. Adwene mu akwahosan: Mfa adesoa yi nkutoo nsoa. Hwehwɛ mmoa fi adwenemyare ho ɔfotufo a ɔwɔ osuahu wɔ adwuma a ɔne kokoram ayarefo anaa wɔn a wɔwɔ nyarewa a enni sabea yɛ mu. Bisa wo duruyɛfo no akuw a wɔboa te sɛ eyinom ho asɛm.
Sɛ wuhu nsakrae biara a ɛyɛ soronko wɔ wo nipadua mu, te sɛ ɛyaw anaasɛ akisikuru a, mmu w'ani ngu so, nsusuw sɛ, "Ɛbɛyɛ sɛ eyi yɛ ade a ɛfata." Ntwɛn nkosi sɛ wobɛyɛ wo nhwehwɛmu a edi hɔ no, na mmom kɔ wo duruyɛfo nkyɛn ntɛm ara .
Nkrasɛm a Wɔde Kɔ Fie
- Li-Fraumeni Syndrome yɛ awosu mu tebea a ɛntaa nsi, a wonya fi awo mu a ɛma kokoram ho asiane yɛ kɛse.
- Nsɛnkyerɛnne biara nni hɔ a ɛbata tebea yi ankasa ho. Kokoram a efi mu ba no na ɛde sɛnkyerɛnne ahorow no ba.
- Ɛwom sɛ wontumi nsiw tebea yi ano de, nanso kokoram ho nhwehwɛmu a wɔyɛ no daa ne ntɛm no ma hokwan a ɛwɔ hɔ sɛ wobegye nnipa nkwa no yɛ kɛse.
- Sɛ wowɔ saa tebea yi a, ɛho hia sɛ wokwati mframa a wɔde sa yare. Ebia wo duruyɛfo no behu eyi.
- Esiane sɛ eyi fi awosu mu nti, ɛho hia sɛ wɔhwehwɛ aduruyɛfo afotu wɔ abusua no mufo afoforo a wɔde wɔn bɛkɔ akɔyɛ awosu mu nhwehwɛmu ho.
- Te sɛ nipadua mu akwahosan no, adwenemyare nso ho hia yiye wɔ akwantu yi mu. Sɛ wuhia mmoa a, ntwentwɛn wo nan ase sɛ wobɛhwehwɛ mmoa.
💬 Comments (0)
Wɔnnya nyɛɛ nsɛm biara. Fa wo nsɛm no ka ho wɔ ha nea edi kan.
Fa wo nsɛm no ka ho