So wunim Cowden Syndrome ho asɛm? Momma yɛnka ho asɛm tiawa!

So woahyɛ no nsow sɛ akuru nketenkete a ɛyɛ soronko reyɛ wɔ wo nipadua so? Anaasɛ ebia woate sɛ obi a ɔwɔ w’abusua mu anya kokoram wɔ ne mmofraase pɛɛ. Ɛtɔ mmere bi a, awosu mu tebea bi a wɔntaa nhu wɔ saa nneɛma yi akyi. Tebea a ɛte saa no biako ne Cowden Syndrome. So yɛbɛka eyi ho asɛm akɔ akyiri kakra nnɛ?

Dɛn ne Cowden Syndrome?

Sɛ yɛbɛka no tiawa a, Cowden yare no yɛ awosu mu yare a ɛntaa nsi a ɛnam yɛn awosu mu nkwaadɔm so na ɛkɔ. Nnipa a wɔwɔ saa tebea yi taa nya nkɔso a ɛnyɛ kokoram a ɛte sɛ akisikuru. Nanso, asiane a ɛwɔ hɔ sɛ wobenya kokoram ahorow bi no yɛ kɛse kakra.

Eyi abu so dɛn?

Ɛnyɛ ankasa. Saa tebea yi a wɔfrɛ no Cowden Syndrome no ho yɛ na koraa . Sɛnea aduruyɛ ho abenfo kyerɛ no, ɛka nnipa bɛyɛ mpem ahanu biara mu biako. Nanso, ɛtɔ mmere bi a, wonnim ne sɛnkyerɛnne ahorow no yiye, enti ebetumi akɔ so a wontumi nhu.

Enti so Cowden Syndrome yɛ kokoram?

Dabi, Cowden yare no nyɛ kokoram. Nanso, ɛda adi sɛ nnipa a wɔwɔ saa tebea yi benya kokoram ahorow bi , na wobetumi anya kokoram ahorow bi nso wɔ wɔn mmofraase sen sɛnea ɛte daa (efi ase ntɛm) . ‘Early-onset’ kyerɛ sɛ yare no ba wɔ mfe a esua sen sɛnea ɛte daa no mu. Sɛ nhwɛso no, ɔbea a ɔwɔ Cowden syndrome betumi anya nufu mu kokoram ansa na wadi mfe 40. Wɔntaa nhu nufu mu kokoram ansa na wadi mfe 60. Kokoram ahorow afoforo wɔ hɔ a ebia ɛne tebea yi wɔ abusuabɔ:

• Endometrial cancer (awotwaa mu kokoram) .
• Thyroid kokoram (titiriw nea wɔfrɛ no `follicular thyroid cancer`) .
• Kokoram a ɛwɔ akyi berɛmo mu
• Asaabo mu kokoram
• Melanoma, honam ani kokoram

Nsonsonoe bɛn na ɛda Cowden Syndrome ne PTEN hamartoma tumor syndrome ntam?

Eyi yɛ asɛm a emu dɔ kakra, nanso mɛma ayɛ mmerɛw. `PTEN hamartoma tumor syndrome (PHTS)` yɛ sɛnkyerɛnne kuw bi a wonya fi awo mu a nsakrae (nsakrae) a ɛba `PTEN` awosu mu abɔde mu na ɛde ba. Wɔahu sɛ nnipa baanan biara mu biako a wɔwɔ Cowden yare no wɔ saa nkwaadɔm mu nsakrae yi wɔ `PTEN` awosu mu abɔde mu.

Nanso esiane sɛ abien no nyinaa ho sɛnkyerɛnne di nsɛ yiye nti, sɛ wowɔ Cowden syndrome anaa tebea a ɛte saa ara a, wo duruyɛfo no bɛyɛ wo te sɛ nea wowɔ PHTS. Eyi te saa efisɛ kokoram ho nhwehwɛmu a wɔyɛ ntɛm na wɔtaa yɛ no ho hia wɔ abien no nyinaa mu.

Dɛn ne Cowden Syndrome ho sɛnkyerɛnne ahorow?

Saa tebea yi ho sɛnkyerɛnne taa fi ase da adi wɔ nipadua no mu wɔ mfe 20 mu. Nnipa binom hu sɛ wɔwɔ Cowden yare no bere a wɔhwehwɛ aduruyɛ mu afotu nkutoo, esiane akisikuru a wɔfrɛ no hamartomas anaasɛ kokoram a ɛba wɔ wɔn mmofraase nti.

Hamartomas (a wɔbɔ no ‘ha-ma-to-mas’) ne ade a ɛtaa ba na ɛda nsow wɔ Cowden yare no ho. Wɔyɛ nneɛma a ɛnyɛ kokoram, a ɛte sɛ akisikuru. Wotumi nyin wɔ nipadua no mu baabiara, wɔ nipadua no mu ne akyi nyinaa. Wɔtaa hu wɔ kɔn, anim, ne ti nhwi so.

Nsɛnkyerɛnne afoforo wɔ hɔ:

• Ti a ɛsõ sen sɛnea ɛte daa a obi benya (macrocephaly) .
• Nkuruwankuruwa nketenkete a ɛyɛ torotoro a ɛwɔ honam ani (trichilemmomas).
• Nsõ a ɛte sɛ akisikuru a ɛda adi pefee wɔ nan ase, nsateaa, ne nsa akyi (acral keratosis).
• Nyini a ɛte sɛ akisikuru wɔ tɛkrɛma, anom, menewa akyi, ne anom (`oral papillomatosis`).

Nanso ɛho hia sɛ wokae eyi: Esiane sɛ wowɔ saa sɛnkyerɛnne ahorow yi bi nti, ɛnkyerɛ sɛ wowɔ Cowden syndrome. Nnuruyɛfo taa susuw tebea no ho sɛ wowɔ saa sɛnkyerɛnne pɔtee yi a wɔaka abom a .

Dɛn na ɛde Cowden Syndrome ba?

Cowden syndrome fi awosu mu nsakrae bi a wunya fi awo mu. Sɛ yɛbɛka no tiawa a, awosu mu nkwaadɔm hwɛ sɛnea yɛn nipadua mu nkwammoaa nyin, kyekyɛ, na wowuwu. Wɔ Cowden yare no mu no, esiane sintɔ bi a ɛwɔ saa awosu mu nkwaadɔm yi mu nti, nkwammoaa a ɛnteɛ nyin a wontumi nni so na ɛkɔ so tra hɔ bere a ɛsɛ sɛ wɔyɛ no. Awiei koraa no, saa nkwammoaa yi bom yɛ akisikuru a ɛnyɛ kokoram a wɔfrɛ no hamartomas.

Nyansahufo da so ara reyɛ awosu mu nsakrae a ɛma asiane a ɛwɔ hɔ sɛ wobenya kokoram yi, awosu mu nkwaadɔm a ɛne Cowden yare no wɔ abusuabɔ no mu nhwehwɛmu. Nnipa binom a wɔwɔ Cowden syndrome nni mutation wɔ `PTEN` gene no mu. Wɔ nnipa kakraa bi mu no, wɔahu nkwaadɔm mu nsakrae wɔ awosu mu nkwaadɔm afoforo mu, te sɛ `PIK3CA/AKT1`, `SDHB-D`, `KLLN` ne `SEC23B`. Enti, aduruyɛ mu nhwehwɛmufo kɔ so hwehwɛ eyi mu.

Ɔkwan bɛn so na wɔde eyi kɔ awo ntoatoaso mu?

Nnipa a wɔwɔ Cowden syndrome nya tebea no fi awo mu wɔ ``autosomal dominant pattern.'' Eyi kyerɛ sɛ wunya awosu mu abɔde a ɛfata fi w'awofo a wɔwoo wo no mu biako hɔ ne awosu mu abɔde a wɔayɛ no foforo fi ɔwofo foforo no hɔ. Wei kyerɛ sɛ abofra biara wɔ hokwan 50% sɛ obenya awosu mu abɔde a wɔayɛ no foforo no.

Dɛn ne nneɛma a ɛde Cowden Syndrome ba?

Asiane titiriw biako pɛ a wɔahu de besi nnɛ ne abusua abakɔsɛm . Eyi kyerɛ sɛ sɛ obi wɔ w’abusua mu wɔ Cowden syndrome a, wo nso wowɔ hokwan kɛse sɛ wubenya bi.

Dɛn ne nsɛnnennen a ebetumi afi tebea yi mu aba?

Sɛ wowɔ Cowden syndrome a, asiane kɛse wom sɛ wubenya kokoram ahorow bi. Afei nso, ebia wubenya kokoram wɔ wo mmofraase , anaasɛ kokoram bɛboro biako wɔ wo nkwa nna mu.Ebetumi aba wɔ mmere ahorow mu, enti ɛho hia sɛ wo ne wo duruyɛfo kasa fa bere ne mpɛn dodow a ɛsɛ sɛ woyɛ kokoram nhwehwɛmu ho.

Ɔkwan bɛn so na nnuruyɛfo hu sɛ obi anya Cowden Syndrome?

Cowden syndrome yɛ yare a emu yɛ den a ɛwɔ sɛnkyerɛnne ahorow pii ne tebea horow a ɛbata ho. Sɛ wowɔ saa sɛnkyerɛnne ahorow yi mu biako anaa nea ɛboro saa mpo a, ɛnkyerɛ ankasa sɛ wowɔ Cowden yare no.

Nea ɛbɛyɛ na nnuruyɛfo ahu Cowden yare no, wɔde wo tebea no toto nhwehwɛmu a nnuruyɛfo a wɔn ho akokwaw wɔ kokoram a wonya fi awo mu ho no ayɛ ho. Wɔ saa adeyɛ yi mu no, wɔde wo tebea no hyia gyinapɛn atitiriw ne gyinapɛn nketenkete . Sɛ wowɔ saa gyinapɛn ahorow yi a wɔaka abom pɔtee a, wohu sɛ wowɔ Cowden yare no.

Ebia nnuruyɛfo besusuw sɛ wowɔ Cowden syndrome sɛ:

• Sɛ `macrocephaly` (ti kɛse) da nkyɛn a, gyinapɛn atitiriw abiɛsa na ɛwɔ hɔ .
• Sɛ wowɔ gyinapɛn titiriw biako anaa gyinapɛn nketenkete abiɛsa .
• Sɛ́ wubenya gyinapɛn nketenkete anan .
• W’abusuafo no mu biako wɔ Cowden yare anaa tebea bi a ɛfa ho te sɛ Bannayan-Riley-Ruvalcaba yare (BRRS).

Nneɛma a Wɔde Hwɛ Cowden Syndrome Ho

Nneɛma atitiriw ne nketenkete a nnuruyɛfo susuw ho no bi ni:

Nneɛma atitiriw a wɔde gyina so:

• Nufu mu kokoram
• Kokoram a ɛwɔ akyi berɛmo mu
• Follicular thyroid kokoram
• Hamartomas pii a ɛwɔ yafunu mu (GI) kwan no mu
• Macrocephaly - (ti ntwemu a ɛboro boɔ pɔtee bi so) .
• Nsonsonoe tuntum (pigmented macules) a ɛwɔ glans penis no so
• Sɛ wɔfa were asinasin bi na wɔhwehwɛ mu (biopsy) a, ɛkyerɛ sɛ ɛyɛ `trichilemmoma' ho sɛnkyerɛnne.
• Sɛ wowɔ honam ani a ɛyɛ den pii (palmoplantar keratosis) wɔ nsa ne anan so
• Sɛ wowɔ nyini a ɛte sɛ akisikuru (`papillomatosis`) pii wɔ ano (ano mucosal) mu .
• Nsõ a ɛte sɛ akisikuru (`papules`) a ɛdɔɔso wɔ anim honam ani (`cutaneous facial`) .

Nneɛma nketenkete a wɔde gyina so:

• Kokoram a ɛwɔ akyi berɛmo mu
• Esophageal glycogenic acanthosis (eyi yɛ tebea pɔtee bi a ɛba wɔ esophagus mu) .
• Autism spectrum yare a ɛma obi nya ɔyare
• Adesua mu dɛmdi ahorow
• Papillary thyroid kokoram
• Thyroid haw ahorow (sɛ nhwɛso no, goiters, adenomas) .
• Asaabo mu kokoram
• Srade a ɛwɔ akisikuru (`Lipomas`) .
• `hamartoma` biako a wowɔ wɔ aduan mu
• Srade a ɛwɔ awotwaa mu (`Testicular lipomatosis`) .

Sɛ wo duruyɛfo susuw sɛ ebia wowɔ Cowden syndrome a, obebisa w’abusua abakɔsɛm na obetumi nso ahyɛ sɛ wɔnyɛ wo awosu mu nhwehwɛmu mfa nhwɛ sɛ wowɔ awosu mu nsakrae anaa.

Sɛ wususuw sɛ wowɔ saa tebea yi a, dɛn na ɛsɛ sɛ woyɛ?

Sɛ wowɔ saa sɛnkyerɛnne ahorow yi a, ɛho hia sɛ wokɔ awosu ho ɔbenfo nkyɛn kɔhwehwɛ afotu . Afei wobetumi asi gyinae sɛ ebia ɛsɛ sɛ woyɛ nneɛma te sɛ PTEN awosu mu nkwaadɔm mu nhwehwɛmu anaa. Wobetumi nso de wo akɔ awosu ho ɔfotufo nkyɛn . Awosu mu ɔfotufo no betumi aboa wo ma woate sɛnea awosu mu tebea horow te sɛ PTEN mu nsakrae betumi aka wo ase. Wobetumi nso akyerɛkyerɛ nea efii awosu mu nhwehwɛmu no mu bae ne kokoram nhwehwɛmu a ebia wubehia sɛ wowɔ PTEN hamartoma tumor syndrome (PHTS) a. Esiane sɛ Cowden syndrome yɛ tebea a ɛntaa nsi nti, ɛyɛ papa sɛ wobɛhwehwɛ kuw anaa beae bi a wɔn ho akokwaw wɔ PHTS ne Cowden syndrome mu.

Ɔkwan bɛn so na nnuruyɛfo sa Cowden Syndrome?

Cowden syndrome yɛ tebea a ɛne tebea horow a egu ahorow, a honam ani haw ne kokoram ka ho, wɔ abusuabɔ. Mpɛn pii no, nkurɔfo hu sɛ wɔwɔ Cowden yare bere a wɔresa wɔn yare foforo a ɛne yare no wɔ abusuabɔ no.

Nanso, ɛho hia sɛ nnipa a wɔwɔ Cowden yare no, nanso mprempren wonni kokoram , yɛ kokoram ho nhwehwɛmu daa, ntɛm . Nhwɛso kakraa bi ni:

• Wɔ nufu mu kokoram ho: Afe afe mammograms a efi ase bere a wɔadi mfe 30. Wobetumi akamfo magnetic resonance imaging (MRI) scan nso ama wɔn a wɔn nufu yɛ den no.
• Wɔ thyroid kokoram ho: Afe afe thyroid ultrasound a efi ase bere a woadi mfe 7. Nanso, sɛ wowɔ sɛnkyerɛnne ahorow (e.g., thyroid nodule, ɛyɛ den sɛ wobɛmene) a, ebia ebehia sɛ woyɛ saa nhwehwɛmu ahorow yi ntɛm.

Saa ara nso na wo duruyɛfo nso betumi akamfo akyerɛ sɛ ɛsɛ sɛ wohwehwɛ kokoram ahorow afoforo mu (sɛ nhwɛso no, awotwaa, asaabo, akyi berɛmo mu kokoram) bere ne bere mu, a egyina w’ankorankoro tebea so.

Dɛn na ɛsɛ sɛ wohwɛ kwan bere a wo ne tebea yi te ase no?

Sɛ wowɔ Cowden syndrome a, w’awosu ho ɔfotufo bɛboa wo ma woate nea ebefi w’awosu mu nhwehwɛmu mu aba no ase. Sɛ w’awosu mu nhwehwɛmu da no adi sɛ wowɔ PTEN hamartoma tumor syndrome (PHTS) a, wɔbɛkyerɛkyerɛ kokoram nhwehwɛmu a wuhia nso mu. Ebia wo mfe sua sen onipa a ɔte saa .Ebia ɛsɛ sɛ wufi ase yɛ kokoram ho nhwehwɛmu ahorow yi. Nanso, sɛ woyɛ nhwehwɛmu ahorow yi daa a, wubetumi ahu kokoram ansa na woanya yare no ho sɛnkyerɛnne mpo.

Nnipa a wɔwɔ Cowden Syndrome nkwa nna yɛ dɛn?

Nkwa nna a Cowden yare no bɛkyɛ no gyina w’ankorankoro tebea horow so. Sɛ nhwɛso no, sɛ wohu sɛ wowɔ nufu mu kokoram wɔ wo mmofraase na atrɛw a, ebia wo nkwa nna bɛyɛ tiaa asen obi a wohui sɛ ɔwɔ kokoram no ntɛm na wɔsaa no yare. Nanso, kokoram ho nhwehwɛmu a wɔkamfo kyerɛ a wubenya no betumi aboa wo ma woasiw kokoram ano, anaasɛ anyɛ yiye koraa no, woakyere no ntɛm bere a wobetumi asa no.

Mɛyɛ dɛn ahwɛ me ho? / Wobɛyɛ dɛn ahwɛ wo ho?

Sɛ wowɔ Cowden syndrome a, ɛho hia sɛ woyɛ kokoram ho nhwehwɛmu daa a ebetumi ahu kokoram ansa na woanya sɛnkyerɛnne ahorow. Bisa wo duruyɛfo sɛ ebia sɛnkyerɛnne pɔtee bi wɔ hɔ a ɛsɛ sɛ wohwɛ yiye wɔ ho a ebetumi ayɛ kokoram anaa. Sɛ wowɔ Cowden syndrome a, bisa w’awosu ho ɔfotufo sɛ ɛsɛ sɛ abusua no mufo afoforo nso yɛ awosu mu nhwehwɛmu anaa.

So ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn? / So ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn?

Yiw, koraa. Cowden syndrome, titiriw sɛ wohu sɛ wowɔ ``germline PTEN mutation`` anaa ``PTEN hamartoma tumor syndrome (PHTS),`` ne kokoram ahorow pii wɔ abusuabɔ. W’aduruyɛfo kuw no bɛhwɛ w’akwahosan nyinaa ne nea ebefi kokoram ho nhwehwɛmu a wɔyɛ no daa mu aba no yiye .

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo? / Nsɛmmisa bɛn na ɛsɛ sɛ wubisa wo duruyɛfo?

Ɛyɛ papa sɛ wubebisa nsɛm te sɛ eyinom bere a worekɔ wo duruyɛfo nkyɛn no:

• "Manya kokoram biako esiane saa tebea yi nti. So ebetumi aba sɛ menya kokoram ahorow afoforo?"
• "Awosu mu nhwehwɛmu kyerɛ sɛ mewɔ `PTEN` awosu mu abɔde a wɔayɛ no foforo. So ɛsɛ sɛ wɔsɔ m'abusua mufo a aka no hwɛ sɛ wɔwɔ saa awosu mu abɔde yi?"
• "So tebea yi betumi aka mmofra a mewɔ daakye?"
• "Mewɔ Cowden syndrome, nanso minni `PTEN` mutation no. Enti awosu mu nsakrae afoforo bɛn na ebetumi de eyi aba?"
• "Awosu mu nhwehwɛmu kyerɛ sɛ mewɔ awosu mu nkwaadɔm a wɔayɛ no foforo a ɛde Cowden syndrome ba. So ɛno bɛma manya kokoram ampa?"

Cowden syndrome yɛ yare a ɛntaa nsi, a wonya fi awo mu a ɛyɛ den sɛ wobehu. Ɛyɛ papa sɛ wobɛkɔ awosu ho ɔbenfo nkyɛn na wahu sɛ wowɔ PTEN hamartoma tumor syndrome (PHTS) anaa. Afei wo nnuruyɛfo betumi ayɛ ayaresa nhyehyɛe a ɛne wo tebea no hyia ho nhyehyɛe. Ɛtɔ mmere bi a, sɛ awosu mu nhwehwɛmu anhu PTEN mu nsakrae no a, ebia ebehia sɛ woyɛ nhwehwɛmu ahorow pii na ama woatumi ayi tebea afoforo afi hɔ. W’awosu ho ɔfotufo bɛkyerɛ wo nea ɛsɛ sɛ woyɛ akyi.

Ebetumi ayɛ adwene a ɛyɛ hu sɛ wubehu sɛ biribi asɛe wo nipadua, nanso wunnim nea ɛyɛ anaa nea wobɛyɛ wɔ ho. Sɛ wuhu sɛ wowɔ Cowden syndrome a, ɛsɛ sɛ wotra ase a wunim sɛ ebia wubenya kokoram ahorow ahorow wo nkwa nna nyinaa. Ɛwom mpo sɛ wunim sɛ nhwehwɛmu ahorow bi wɔ hɔ a ebetumi ahu kokoram ansa na sɛnkyerɛnne ahorow ada adi de, nanso adwene no betumi ayɛ hu ankasa. Sɛ wowɔ saa tebea yi a, w’aduruyɛfo kuw no bɛhwɛ w’akwahosan ne nea efi nhwehwɛmu mu aba no so bere nyinaa. Wɔbɛyɛ ade ntɛm de asa kokoram no ansa na atrɛw. Enti, ɛho hia sɛ wunya akokoduru, di wo duruyɛfo afotu akyi, na wokɔhwɛ wo daa.

Sɛ yɛbɛbɔ ne nyinaa mua a (Take-Home Message) .

Okay, enti momma yɛnhwɛ nneɛma a ɛho hia paa a ɛsɛ sɛ wokae fi nea yɛaka ho asɛm no mu:

• Cowden Syndrome yɛ awosu mu tebea a ɛntaa nsi a ɛma akisikuru a ɛnyɛ kokoram (hamartomas) ba nipadua no mu, ne asiane a ɛkɔ soro sɛ obenya kokoram ahorow bi (titiriw nufu, thyroid, ne awotwaa mu kokoram).
• Eyi nyɛ kokoram tẽẽ, nanso ɛho hia yiye sɛ wɔyɛ nhwehwɛmu daa esiane asiane a ɛwɔ hɔ sɛ wobenya kokoram nti .
• Ɛsono sɛnea yare no ho sɛnkyerɛnne. Wɔn titiriw ne ti kɛse (macrocephaly) ne akuru pɔtee bi a ɛwɔ honam ani ne ano. Saa sɛnkyerɛnne ahorow yi nkutoo nkyerɛ sɛ yare no wɔ hɔ, na wogyina nnuruyɛ mu gyinapɛn ahorow so na ɛkyerɛ sɛ obi anya yare no.
• Saa tebea yi taa ne nsakrae a ɛba awosu mu nkwaadɔm `PTEN` mu no wɔ abusuabɔ. Awosu mu nhwehwɛmu ne awosu mu afotu ho hia yiye wɔ eyi mu.
• Wɔde wɔn adwene si kokoram a wobehu ntɛm na wɔasa so titiriw . Enti, yɛ nhwehwɛmu (mammograms, ultrasounds, ne nea ɛkeka ho) a wo duruyɛfo kamfo kyerɛ no wɔ bere ano.
• Sɛ w’adwene mu yɛ wo naa wɔ tebea yi ho, anaa sɛ obi a ɔwɔ w’abusua mu wɔ saa sɛnkyerɛnne ahorow yi a, ntwentwɛn wo nan ase sɛ wobɛkɔ oduruyɛfo nkyɛn akɔhwehwɛ afotu. Ɛho hia paa sɛ wɔbɔ wo amanneɛ na woyɛ ho biribi ntɛm.

Kae sɛ, sɛ wo ne tebea yi bɛtra ase a, ebetumi ayɛ den, nanso sɛ aduruyɛfo hwɛ wo so yiye na wɔboa wo a, wubetumi adi ho dwuma. Ɛnyɛ wo nko ara.

` Cowden Syndrome, Awosu mu Nyarewa, Kokoram Asiane, PTEN Awosu mu Awosu, Wora mu Akuru, Hematoma, Awosu mu Nyarewa, Kokoram Nhwehwɛmu