So worenya nsensanee tuntum ne akisikuru wɔ wo nipadua so? Momma yɛnka Peutz-Jeghers Syndrome (PJS) ho asɛm!

So wo ba kumaa no wɔ nsensanee nketenkete a ɛyɛ tuntum wɔ n’ano, n’ano mu, anaa ne nsa ho? Ebia wubesusuw sɛ wɔyɛ nsensanee ara kwa. Nanso ebia ɛbɛyɛ wo nwonwa sɛ wubehu sɛ saa nsensanee yi betumi ne akisikuru bi a ɛba nipadua no mu, titiriw wɔ dwensɔtwaa mu no wɔ abusuabɔ. Ɛnnɛ yɛbɛka tebea bi a ɛntaa nsi nanso ɛho hia a ɛsɛ sɛ yɛma yɛn ani da hɔ ho asɛm. Wɔfrɛ eyi Peutz-Jeghers Syndrome, anaa PJS tiawa.

Sɛ yɛbɛka no tiawa a, dɛn ne Peutz-Jeghers Syndrome (PJS)?

Peutz-Jeghers Syndrome (PJS) yɛ awosu mu tebea a ɛma nnua nketenkete (polyps) nyin wɔ yɛn nipadua mu na nsensanee tuntum pue wɔ yɛn honam ani ne yɛn ano mu. Nea eye sen biara ne sɛ saa nyin ne nsensanee yi nyɛ kokoram (ɛnyɛ bɔne) . Nanso ɔhaw no ne sɛ nnipa a wɔwɔ PJS no wɔ asiane kɛse sɛ wobenya kokoram daakye sen afoforo.

Saa nsensanee tuntum yi (wɔ nnuruyɛ mu frɛ no `mucocutaneous hyperpigmentation`) no, wɔtaa hu wɔ mmofraase. Nanso wɔyera nkakrankakra bere a yɛrenyin no. Akisikuru ko a mekaa ho asɛm (`hamartomatous polyps`) no taa ba yɛn aduan mu nhyehyɛe (`yafunu mu kwan`). Ɛne sɛ, wɔ mmeae te sɛ dwensɔtwaa ketewaa, yafunu, ne akyi berɛmo . Nanso ɛtɔ mmere bi a, wotumi nyin wɔ mmeae te sɛ asaabo, akisikuru, ahurututu, ne hwene nso. Saa akisikuru yi tumi de nsɛnnennen ahorow ba, na ɛtɔ mmere bi a ebetumi adan kokoram.

Sɛ wowɔ PJS a, wo duruyɛfo bɛhwɛ sɛ wowɔ kokoram ne akisikuru a asiane kɛse wom.

Saa yare yi abu so dɛn?

Eyi yɛ tebea a ɛntaa nsi koraa. Ɛwom sɛ wonnim nnipa dodow pɔtee a wɔwɔ bi de, nanso nhwehwɛmufo bu akontaa sɛ ɛka nnipa 300,000 biara mu biako kosi 25,000 biara mu biako .

Dɛn ne PJS ho sɛnkyerɛnne ahorow?

PJS titiriw na ɛde nsensanee tuntum (wɔ mmofraase) ne polyps (wɔ mmofra ne mpanyimfo nyinaa mu) ba. Momma yɛnhwɛ saa sɛnkyerɛnne ahorow yi wɔ ɔkwan soronko so.

Dɛn nti na saa PJS yi nya nkɔso? Dɛn na ɛde ba?

Nnipa dodow no ara a wɔwɔ PJS no wɔ awosu mu nkwaadɔm bi a wɔfrɛ no STK11 mu nsakrae. STK11 yɛ awosu mu abɔde a ɛma akisikuru siw ano . Sɛ yɛbɛka no tiawa a, awosu mu abɔde yi dwumadi ne sɛ ɛbɛhwɛ sɛnea nkwammoaa a ɛwɔ yɛn nipadua mu no nyin a yentumi nni so.

Nnipa a wɔwɔ PJS no mu bɛyɛ 80% nya saa awosu mu nkwaadɔm mu nsakrae yi fi wɔn maame anaa wɔn papa hɔ. Ebia 20% a wɔaka no nni abusua abakɔsɛm biara a ɛfa yare no ho, nanso ebia wɔn ankasa benya saa awosu mu nkwaadɔm mu nsakrae yi. Nnipa binom nya PJS a nsakrae biara mma STK11 awosu mu abɔde mu. Nyansahufo nnya nhuu nea enti a ɛte saa ankasa.

Ɔkwan bɛn so na wonya yare yi fi awo mu?

Mpɛn pii no, abofra nya saa awosu mu abɔde a wɔasesa yi fi ɔwofo biako hɔ. Ɛyɛ agyapade wɔ ``autosomal dominant`` nhyehyɛe mu. Wei kyerɛ sɛ sɛ ɛna anaa agya no nya saa ``STK11`` awosu mu abɔde a wɔasesa yi a, abofra no wɔ asiane kɛse mu sɛ obenya PJS sɛnkyerɛnne ne nsɛnnennen. Sɛ wowɔ saa gene mutation yi a, wo ba no wɔ hokwan 50% sɛ obenya bi.

Dɛn ne nsɛnnennen a ebetumi afi PJS mu aba?

Ɔhaw a emu yɛ den sen biara ne kokoram .Nhwehwɛmufo ka sɛ obi a ɔwɔ PJS no wɔ asiane a ɛwɔ hɔ sɛ obenya kokoram wɔ ne nkwa nna nyinaa mu a ɛkɔ soro kodu 93% . Ɛno nti na nnuruyɛfo taa hwehwɛ kokoram mu na wɔbɔ mmɔden sɛ wobehu ntɛm no.

Nsɛnnennen afoforo a ɛde ba ne:

• Intussusception: Eyi ba bere a polyp kɛse bi a ɛwɔ dwensɔtwaa ketewa no mu pia kɔ mu na ɛma dwensɔtwaa no fã bi kotow kɔ mu no. Saa tebea yi betumi aka nnipa a wɔwɔ PJS no mu bɛyɛ 69%.
• Dwonku ketewa a ɛsiw: Akisikuru betumi asiw dwensɔtwaa ketewa no ano. Nnipa a wɔwɔ PJS no mu bɛyɛ 50% nya dwensɔtwaa mu akwanside a emu yɛ den a ɛhia sɛ wɔyɛ wɔn oprehyɛn ansa na wɔadi mfeɛ aduonu.
• Mogya a efi aduan mu: Akisikuru betumi de nhyɛso aba dwensɔtwaa mu ntini no so na ama mogya atu.
• Mogya a ɛtɔ dade a enni nipadua no mu: Mogya a ɛkɔ so tu no ma dade a ɛwɔ nipadua no mu no so tew, na ɛde mogya a ɛtɔ kɔ nipadua no mu ba.

Nsɛnnennen pɔtee a ɛba mmea ne mmarima so

• Mmea: Ovarian tumors (ɔbarima ne ɔbea nna mu akisikuru) ne kokoram bi a ɛntaa nsi na ɛyɛ hu a wɔfrɛ no adenoma malignum, a ɛba awotwaa mu. Eyi betumi ama wakɔ brayɛ a ɛnkɔ so daa anaasɛ wanyin ntɛm.
• Mmarima: Ebia wobenya akisikuru wɔ awotwaa mu (Sertoli-cell tumors). Eyi betumi ama nufu no anyin (gynecomastia), ababunbere ntɛm, na wɔn nnompe betumi anyin ntɛmntɛm asen sɛnea ɛte daa, na awiei koraa no ɛbɛma wɔayɛ tiaa.

PJS ne kokoram ho asiane

PJS ma asiane a ɛwɔ hɔ sɛ obi benya kokoram wɔ aduan mu ne nipadua no akwaa afoforo mu no yɛ kɛse. Sɛ wɔkyekyem pɛpɛɛpɛ a, mfe a PJS ɔyarefo bi adi sɛ ɔwɔ kokoram no bɛyɛ mfe 42.

Ɔkwan bɛn so na wohu PJS?

Wohu sɛ nnipa pii anya PJS bere a wɔakɔ oduruyɛfo nkyɛn akyi esiane sɛnkyerɛnne ahorow te sɛ dwensɔtwaa mu akwanside anaasɛ intussusception nti. Sɛ wɔkyekyem pɛpɛɛpɛ a, mfe a obi adi ansa na wɔahu yare no bɛyɛ mfe 23. Sɛnea ɛbɛyɛ na nnuruyɛfo ahu yare no, hwehwɛ nea edidi so yi:

• So obi wɔ abusua no mu a ɔwɔ PJS?
• Nsonsonoe tuntum a ɛwɔ honam ani.
• Sɛ́ ebia polyps wɔ aduan a wɔyam no mu anaa.

Bio nso, wobetumi ayɛ awosu mu nhwehwɛmu de ahwɛ sɛ wowɔ `STK11` awosu mu nkwaadɔm mu nsakrae no anaa.

Nhwehwɛmu a wɔyɛ de hu yare no

Ebia wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ nhwehwɛmu ahorow mfa nhwɛ sɛ akisikuru bi wɔ wo dwensɔtwaa mu anaa. Ebi ne:

• Colonoscopy: Wɔde afiri a wɔde mfoninitwa afiri di dwuma de hwehwɛ dwensɔtwaa kɛse no mu.
• Upper endoscopy: Wɔhwehwɛ aduannuru, yafunu, ne dwensɔtwaa ketewa no atifi fã.
• Capsule endoscopy: Sɛ wɔmene capsule a mfoninitwa afiri ketewaa bi wɔ mu. Saa mfoninitwa afiri yi twa mfonini bere a ɛnam aduan mu ntini no mu no.

Wubetumi nso agye mogya ahwɛ sɛ ebia mogya atɔ wo esiane iron a wunni nti anaa.

Dɛn ne ayaresa ahorow a wɔde sa PJS?

Wontumi nsa PJS koraa, enti ayaresa botae titiriw ne sɛ wɔbɛhwɛ asiane a ɛwɔ hɔ sɛ obi benya kokoram na wɔasiw nsɛnnennen a akisikuru no de ba no ano.

Nnuruyɛfo betumi ayi akisikuru a ɛwɔ dwensɔtwaa kɛse no mu bere a wɔreyɛ colonoscopy no. Wobetumi ayi akisikuru a ɛwɔ yafunu no ne dwensɔtwaa ketewa no atifi nso afi hɔ sɛ ɛho hia a. Ɛtɔ mmere bi a, wɔde akwan titiriw te sɛ balloon-assisted enteroscopy di dwuma de yi akisikuru a ɛkɔ akyiri kɔ dwensɔtwaa ketewa no mu no fi hɔ.

Wɔ tebea horow bi mu no, ebia ɛho behia sɛ wɔyɛ oprehyɛn de yi akisikuru no fi hɔ.

Nhwehwɛmu bɛn na ɛsɛ sɛ meyɛ daa?

Sɛ wowɔ PJS a, ɛho behia sɛ woyɛ nhwehwɛmu daa wɔ w’asetra nyinaa mu na ama woahu kokoram ne nsɛnnennen afoforo ntɛm. Ebia eyi bɛyɛ te sɛ nea ɛhyɛ abufuw kakra, nanso ɛho hia sɛ wobɔ wo nkwa ho ban.

So wobetumi asiw yare yi ano?

Esiane sɛ mpɛn pii no, PJS fi awosu mu nti, biribiara nni hɔ a yebetumi ayɛ de asiw ano.

Nanso sɛ wowɔ PJS a, ade a ɛho hia sen biara a wubetumi ayɛ ne sɛ wobɛbɔ w’abusua amanneɛ wɔ ho na wode wɔn akɔma wɔn awosu mu afotu . Afei wobetumi asɔ saa awosu mu nkwaadɔm mu nsakrae yi ahwɛ na wɔanya afotu a wohia na wɔasiw kokoram ano.

Sɛ wowɔ PJS a, wo ba no wɔ hokwan 50% sɛ obenya bi. Nanso mprempren akwan bi wɔ hɔ a wobetumi afa so atew saa asiane no so. Sɛ nhwɛso no, sɛ worewo akokoaa denam in vitro fertilization (IVF) so a, wobetumi de ɔkwan bi a wɔfrɛ no preimplantation genetic diagnosis (PGD) ahwɛ sɛ ebia awosu mu nkwaadɔm mu nsakrae wɔ awotwaa no mu anaa. Eyinom yɛ akwan a ɛyɛ den na ne bo yɛ den, enti ɛho hia sɛ wo ne wo duruyɛfo kasa fa eyi ho.