So worenya nsensanee nketenkete wɔ wo nipadua so ne akisikuru wɔ wo yafunu mu? Momma yensua Peutz-Jeghers Syndrome (PJS) ho ade!

Ɛtɔ mmere bi a, nneɛma betumi ato yɛn nipadua a yɛnhwɛ kwan, ɛnte saa? Fa no sɛ wo anaa wo ba no wɔ nsensanee nketenkete a ɛyɛ tuntum wɔ wo honam ani, titiriw wɔ w’ano ho, na wo nso wo yafunu mu haw. Ebia saa nneɛma yi renyɛ mmerɛw sɛnea wususuw no. Ɛnnɛ yɛrebɛka tebea bi a ɛda sɛnkyerɛnne a ɛte saa ara adi, a ɛntaa nsi kakra, nanso ɛho hia yiye sɛ yehu ho asɛm. Ɛno ne Peutz-Jeghers Ayaresa (PJS).

Dɛn ne Peutz-Jeghers Ayaresa (PJS)? Momma yɛnte ase kɛkɛ!

Sɛ yɛbɛka no tiawa a, Peutz-Jeghers Syndrome (PJS) yɛ tebea a ɛma nyini nketenkete (polyps) ba wo nipadua mu, ne nsensanee a ɛyɛ tuntum wɔ w’anim, wo nsa, ne wo nan ase nso. Saa nyini ne nsensanee yi nyinaa nyɛ kokoram ankasa, a ɛkyerɛ sɛ ɛnyɛ hu . Nanso, sɛ wowɔ PJS a, ɛma asiane a ɛwɔ hɔ sɛ wubenya kokoram no yɛ kɛse.

Saa nsensanee tuntum yi (wɔfrɛ no aduruyɛ mu sɛ ``mucocutaneous hyperpigmentation'') wɔ mmofra nkumaa a wɔwɔ PJS mu, nanso bere kɔ so no, ɛyera nkakrankakra. Nyini ko a mekaa ho asɛm (a wɔfrɛ no ``hamartomatous polyps'') taa nyin wɔ wo digestive tract (``(GI tract)''). Wɔtaa hu wɔ wo dwensɔtwaa ketewa, yafunu, ne dwensɔtwaa kɛse (``(colon)'') mu. Nanso, ebetumi nso anyin wɔ aduan a ɛma wodidi no akyi, te sɛ w’asaabo, wo dwonku, w’ahurututu, ne wo hwene mu. Saa nneɛma a enyin yi betumi abɛyɛ kokoram na ɛde nsɛnnennen ahorow a ehia sɛ wɔsa ba.

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

PJS tebea yi abu so dɛn?

Ɛyɛ den sɛ yɛbɛka sɛnea Peutz-Jeghers Syndrome (PJS) abu so no ankasa, efisɛ nhwehwɛmufo nnya nnyaa dodow pɔtee. Nanso wosusuw sɛ ebetumi aka nnipa 300,000 biara mu 1 kosi 25,000 biara mu 1. Enti, yiw, ɛyɛ tebea a ɛntaa nsi koraa .

Dɛn ne PJS ho sɛnkyerɛnne ahorow? Woyɛ dɛn hu no?

PJS titiriw na ɛde nsensanee tuntum (wohu eyinom wɔ mmofra nkumaa mu) ne nea wɔfrɛ no ``hamartomatous polyps'' (wobetumi ahu eyinom wɔ mmofra nkumaa ne mpanyimfo mu).

Nsonsonoe a ɛyɛ sum:

Mmofra nkumaa a wɔwɔ Peutz-Jeghers Syndrome no nya nsensanee bruu-fitaa anaa bruu. Ɛtɔ mmere bi a wodi mfomso bu eyinom sɛ ɛyɛ nsensanee. Saa nsensanee yi taa fi ase pue bere a abofra no adi mfe 1-2 na ɛde nkakrankakra yera bere a wodu wɔn mmabunbere awiei no. Saa nsensanee yi kɛse betumi afi mm 1 (bɛyɛ sɛ pɛnsere ano a wɔasen no kɛse) kosi mm 5 (bɛyɛ sɛ pɛnsere a wɔde popa ade). Wobetumi apue wɔ nipadua no akwaa ahorow so:

• Wɔ anofafa so anaa ne ho ahyia (eyi ne nea abu so sen biara) .
• Ano mu
• Hwene
• Aniwa no ho ahyia
• Nsateaa a Wɔde Yɛ Nsateaa
• Kuram
• Nneɛma a ɛwɔ ase
• Atwa akyi berɛmo no ho ahyia

Nsɛnkyerɛnne a akisikuru a ɛwɔ aduan mu no de ba:

Nsɛnkyerɛnne afoforo fa nyin (polyps) a ɛwɔ aduan mu (titiriw wɔ dwensɔtwaa anaa yafunu mu), anaa nsɛnnennen a saa nyin no de ba ho. Saa nsɛnkyerɛnne yi taa ba bere a woadi mfe 10 kosi 30. Nsɛnkyerɛnne a ebetumi afi saa nyin yi mu aba no bi ne:

• Yafunu mu yaw (`(Yafunu mu yaw)`) .
• Akisikuru ne ɔfe (`(Akisikuru ne ɔfe)`) .
• Mogya a ɛba yafunu mu (`(Mogya a ɛba yafunu mu)`) .
• Mogya a ɛwɔ wo nsu mu (`(Mogya a ɛwɔ wo nsu mu)`)
• Mogya a ɛtɔ mogya mu (iron dodow a ɛwɔ nipadua no mu betumi atew esiane mogya a ɛtaa tu nti) .

Dɛn na ɛde PJS ba?

Nnipa dodow no ara a wɔwɔ Peutz-Jeghers Syndrome no wɔ mutation (anaasɛ nsakrae) wɔ gene bi a wɔfrɛ no ``STK11'' no mfonini biako mu. Saa ``STK11'' yi yɛ tumor suppressor gene. Ɔkwan foforo so no, saa awosu mu abɔde yi te sɛ switch a ɛhwɛ nkwammoaa nyin so. Sɛ saa awosu mu abɔde yi ntumi nyɛ adwuma yiye a, ɛte sɛ kanea a ɛsɔ bere nyinaa na enni obiara a obedum. Nkwammoaa no kɔ so kyekyɛ na enyin, na ɛka bom yɛ akisikuru.

Nnipa a wɔwɔ PJS no mu bɛyɛ 80% anya awosu mu nkwaadɔm mu nsakrae no afi wɔn awofo hɔ, a ɛkyerɛ sɛ wonya fi wɔn maame anaa wɔn papa hɔ. 20% a aka no wɔ mutation no, nanso obiara nni wɔn abusua mu a wanya tebea no pɛn, anaasɛ nnipa binom nni mutation no koraa. Ɛda adi sɛ nnipa a wɔwɔ `(STK11)` awosu mu nkwaadɔm mu nsakrae a wonni abusua abakɔsɛm no nyaa mutation no wɔ wɔn asetra mu bere bi. Nanso, nyansahufo da so ara nni adwene a emu da hɔ wɔ sɛnea PJS nyin a `(STK11)` awosu mu nkwaadɔm mu nsakrae no nka ho.

Ɔkwan bɛn so na PJS fi abusua no mu?

Mpɛn pii no, abofra nya PJS awosu mu abɔde no fi ɔwofo bi a ɔwɔ awosu mu nkwaadɔm mu nsakrae no hɔ. Nsakrae a ɛde PJS ba no fi awo mu wɔ autosomal dominant nhyehyɛe mu.

Ɛba saa: Awofo baanu no nyinaa de awosu mu abɔde a nkwa wom `(STK11)` no biako ma wɔn ba. Sɛ asiane kɛse wom sɛ wubenya PJS ho sɛnkyerɛnne ne nsɛnnennen a, ɛbɛyɛ sɛ wunyaa saa awosu mu abɔde a wɔayɛ no foforo yi fii ɔwofo biako pɛ hɔ.

Sɛ wowɔ saa gene mutation yi a, 50% wɔ hɔ sɛ wo ba nso benya bi.

Dɛn ne nsɛnnennen a ebetumi afi PJS mu aba?

Eyi mu ɔhaw a emu yɛ den sen biara ne kokoram . Nhwehwɛmufo ka sɛ sɛ wowɔ PJS a, asiane a ɛwɔ hɔ sɛ wubenya kokoram wɔ wo nkwa nna nyinaa mu no betumi ayɛ kɛse akodu 93%. Ɛno nti na wo duruyɛfo bɛhwɛ wo daa sɛ ebia wowɔ kokoram anaa. Saa kwan no so no, wobetumi ahu no ntɛm na wɔasa.

Nsɛnnennen afoforo a ɛde ba ne:

• Intussusception of the small bowel : Eyi ne bere a wo dwensɔtwaa ketewa no fã bi bobɔw kɔ mu, te sɛ sɔks a ɛrehuruhuruw kɔ mu. Eyi ba bere a onyin kɛse bi (polyp) bɔ mmɔden sɛ ɛbɛfa dwensɔtwaa no mu no. Saa tebea yi betumi aka nnipa a wɔwɔ PJS no mu bɛyɛ 69%.
• Dwonku ketewa a ɛsiw (`(Dwon ketewa a ɛsiw)`) .: Saa akisikuru no betumi asiw wo dwensɔtwaa ketewaa no kwan. Nnipa a wɔwɔ PJS no mu bɛyɛ 50% benya dwensɔtwaa mu a ɛhia sɛ wɔyɛ oprehyɛn ansa na wɔadi mfeɛ aduonu.
• Mogya a ɛba yafunu mu : Akisikuru betumi de nhyɛso aba aduan mu ntini ahorow so, na ama mogya atu.
• Mogya a ɛtɔ dade a enni nipadua no mu: Mogya a ɛkɔ so tu no betumi ama dade a ɛwɔ nipadua no mu no so atew, na ama mogya atɔ nipadua no mu.

Wɔ mmea mu no, awotwaa mu akisikuru bi a wɔfrɛ no ``sex-cord tumors'' ne awotwaa mu kokoram a ɛntaa nsi, a emu yɛ den a wɔfrɛ no ``adenoma malignum'' betumi aba. Saa akisikuru yi betumi ama obi akɔ brayɛ a ɛnkɔ so daa na wanya mmerantebere ne mmabaabere ntɛm.

Mmarima betumi anya akisikuru a ɛte sɛ ɔbarima ne ɔbea nna ne Sertoli nkwammoaa wɔ wɔn mmadwoa mu. Eyi betumi ama wɔanya nufu (gynecomastia), wɔafa mmerantebere ne mmabaabere mu ntɛm, na wɔn nnompe betumi anyin ntɛmntɛm asen sɛnea ɛte (nnompe mu mfe a akɔ anim), na ebia ɛbɛyɛ tiaa asen sɛnea ɛte daa.

Asiane bɛn na ɛwɔ kokoram a ɛbata PJS ho?

Peutz-Jeghers Syndrome (PJS) ma asiane a ɛwɔ hɔ sɛ wubenya kokoram a ɛwɔ aduan mu ne akwaa afoforo mu no yɛ kɛse. Sɛ obi a ɔwɔ PJS nya kokoram a, wɔtaa hu no bɛyɛ mfe 42. Kokoram ahorow a ɛtaa nya wɔ nnipa a wɔwɔ PJS mu ne ne dodow ni:

• Kokoram a ɛwɔ akyi berɛmo mu: Ɛkɔ 40%.
• Nufu mu kokoram: 30% kosi 50%.
• Kokoram a ɛwɔ dwensɔtwaa mu (`(Kokoram a ɛwɔ dwensɔtwaa mu)`): 11% kosi 36%.
• Yafunu mu kokoram: Ɛkɔ 30%.
• Ovarian kokoram (`(Ovarian kokoram)`): 20%.
• Ahurututu mu kokoram (`(Ahurututu mu kokoram)`): 15%.
• Kokoram a ɛba dwensɔtwaa mu (`(Kokoram a ɛba dwensɔtwaa mu)`): Ɛkɔ 13%.
• Awotwaa mu kokoram (`(Awotwaa mu kokoram)`): 10%.
• Awotwaa mu kokoram: Ennu 10%.
• Testicular cancer: Ennu 10%.
• Kokoram a ɛwɔ aduan mu: 2%.

Nsuro bere a wuhu asiane ɔha biara mu nkyem ahorow yi. Ade a ɛho hia sen biara ne sɛ wobɛsɔ wo ahwɛ wɔ bere ano. Afei, sɛ biribi wɔ hɔ a, wobetumi ahu na wɔasa no ntɛm.

Ɔkwan bɛn so na wobetumi ahu PJS? (Nyare a Wɔahu) .

Nnipa dodow no ara a wɔahu sɛ wɔwɔ PJS no kɔ oduruyɛfo nkyɛn efisɛ wɔwɔ sɛnkyerɛnne ahorow a ɛkyerɛ sɛ wɔn dwensɔtwaa asiw (dwensɔtwaa mu akisiw) anaasɛ wɔn dwensɔtwaa mu akisiw (intestinal intussusception). Sɛ wɔkyekyem pɛpɛɛpɛ a, mfe a obi adi a wohu sɛ ɔwɔ PJS no bɛyɛ mfe 23. Nnuruyɛfo hwehwɛ nea edidi so yi na ama wɔahu PJS:

• Abakɔsɛm a ɛkyerɛ sɛ ebia obi wɔ abusua no mu wɔ PJS anaa.
• Nsonsonoe tuntum a ɛwɔ nipadua no so.
• Polyps a ɛwɔ aduan mu.

Afei nso, wɔrehwɛ sɛ ebia mutation bi wɔ `(STK11)` gene no mu anaa.

Nhwehwɛmu bɛn na wɔyɛ de hu tebea yi?

Ebia wo duruyɛfo bɛyɛ mfoninitwa akwan horow, titiriw nhwehwɛmu ahorow a wɔde afiri a wɔde mfoninitwa afiri (afiri a wɔde hwɛ ade) di dwuma de hwehwɛ akisikuru a ɛwɔ wo menewam mu. Ebia sɔhwɛ ahorow yi bi ne:

• Colonoscopy : Eyi hwehwɛ wo dwensɔtwaa kɛse no mu.
• Upper endoscopy : Eyi hwehwɛ wo esophagus, yafunu, ne dwensɔtwaa ketewa no atifi.
• `(Capsule endoscopy)` : Wɔ eyi mu no, womene capsule a mfoninitwa afiri ketewa bi wɔ so. Ɛtwa mfonini bere a ɛfa wo aduan mu nhyehyɛe mu no.

Wubetumi nso agye mogya de ahwɛ sɛ mogya a ɛtɔ kɔ nipadua mu a iron nni mu anaa. Wubetumi nso ayɛ awosu mu nhwehwɛmu wɔ wo mogya mu de ahu sɛ ebia wowɔ STK11 awosu mu nkwaadɔm mu nsakrae no anaa.

Ɔkwan bɛn so na wɔsa Peutz-Jeghers Syndrome (PJS) no?

Wo nnuruyɛfo bɛhwɛ w’akwaa ahorow so titiriw, a ɛkyerɛ sɛ wɔbɛhwɛ sɛ ebia kokoram anaa nsɛnnennen afoforo a akisikuru de ba anaa.

Colonoscopy betumi ayi akisikuru a ɛwɔ dwensɔtwaa kɛse no mu afi hɔ. Sɛ ɛho hia a, wobetumi ayɛ akisikuru a ɛwɔ yafunu no mu ne dwensɔtwaa ketewa (duodenum) no atifi nso mu nhwehwɛmu na wɔayi afi hɔ. Ɛtɔ mmere bi a, wobetumi de sɔhwɛ bi a wɔfrɛ no balloon-assisted enteroscopy adi dwuma de ahu akisikuru a ɛwɔ dwensɔtwaa ketewa no mu tɔnn na wɔayi afi hɔ.

Wɔ tebea horow bi mu no, ebia ɛho behia sɛ wɔyɛ oprehyɛn na wɔayi akisikuru no afi hɔ. Mpɛn pii no, nnuruyɛfo a wɔyɛ oprehyɛn tumi yi akisikuru no mmiako mmiako, a wonnyi dwensɔtwaa no afã horow.

Sini ahorow bɛn na ɛsɛ sɛ meyɛ?

Eyi ne ɔfã a ɛho hia sen biara. Sɛ wowɔ PJS a, ɛsɛ sɛ woyɛ nhwehwɛmu ahorow daa. Ɛwom sɛ eyi betumi ayɛ te sɛ nea ɛhyɛ abufuw kakra de, nanso ɛho hia sɛ wobɔ w’akwahosan ho ban.

Sɔhwɛ nhyehyɛe a ɛwɔ hɔ nyinaa te sɛ nea edidi so yi:

• `(CT/MRI enterography)` anaa `(video capsule endoscopy)` : .
• Ɛsɛ sɛ efi ase wɔ mfe 8-10 mu. Sɛ akisikuru wɔ hɔ a, san yɛ bio mfe 2-3 biara.
• Sɛ akisikuru biara nni hɔ a, twɛn kosi sɛ wubedi mfe 18 na fi ase yɛ nhwehwɛmu bio, na afei yɛ no mfe 2-3 biara.
• Sɛ aka akyi dodo a, ɛsɛ sɛ wufi ase bere a woadi mfe 12. Sɛ wowɔ nnuaba a, yɛ no afe biara, anaa mfe 2-3 biara.
• `(Endoscopy a ɛwɔ soro)` : .
• Ɛsɛ sɛ wufi ase bere a woadi mfe 12. Sɛ wowɔ nnuaba a, yɛ no afe biara, anaa mfe 2-3 biara.
• `(Magnetic resonance cholangiopancreatography (MRCP))` anaa `(ɛfiri mu nnyigyei a wɔde hwɛ nipadua no mu)` :
• Efi mfe 25-30 no, ɛsɛ sɛ wɔyɛ no mfe 1-2 biara.

Sɔhwɛ pɔtee a wɔyɛ ma mmea:

• Efi bere a wudi mfe 25 no, ma oduruyɛfo nhwɛ wo nufu mu mprenu afe biara.
• Efi bere a woadi mfe 25 no, yɛ mammogram ne nufu MRI afe biara.
• Efi mfe 18 kosi 20 no, yɛ pelvic nhwehwɛmu ne Pap smears afe biara.
• Efi mfe 18 kosi 20, afe biara wɔyɛ ``transvaginal ultrasound`` (eyi ho nhia, wɔ nnuruyɛfo afotu so).

Sɔhwɛ pɔtee a wɔyɛ ma mmarima:

• Efi bere a woadi mfe 10 no, ɛsɛ sɛ woyɛ wo mmadwoa mu nhwehwɛmu afe biara. Ɛsɛ sɛ wuhu nsakrae biara a ɛma ɔbea yɛ te sɛ nufu nyin nso.

So wobetumi asiw Peutz-Jeghers Syndrome (PJS) ano?

Esiane sɛ PJS taa yɛ awosu nti, biribiara nni hɔ ankasa a wubetumi ayɛ de asiw ano.

Nanso nneɛma bi wɔ hɔ a wubetumi ayɛ. Sɛ wowɔ PJS a, ma abusua no mufo afoforo nhu na hyɛ wɔn nkuran sɛ wonnya awosu mu afotu. Saa nhwehwɛmu yi bɛhwɛ sɛ PJS awosu mu nkwaadɔm mu nsakrae no wɔ hɔ anaa. Sɛ wɔn nso wɔ STK11 awosu mu nkwaadɔm mu nsakrae a, wobenya nyansahyɛ ahorow a ɛbɛboa ma wɔasiw kokoram ano na wɔakɔ so anya apɔwmuden.

Sɛ wowɔ PJS a, ɛyɛ 50% sɛ wo ba no nso benya gene mutation no. Nanso akwan bi wɔ hɔ a wobetumi afa so atew saa asiane no so.

Sɛ nhwɛso no, sɛ wode in vitro fertilization (IVF) redi dwuma de awo a, ebia wobɛpɛ sɛ wosɔ ɔkwan bi a wɔfrɛ no preimplantation genetic diagnosis (PGD) hwɛ. Nea ɛka PGD ho ne sɛ wɔbɛsɔ nkwaboaa a wɔahyɛ no ahwɛ sɛ ebia awosu mu nsakrae bi wɔ hɔ anaa.

Nanso, PGD yɛ adeyɛ a ɛyɛ den na ne bo yɛ den, enti ɛyɛ papa sɛ wo ne awosu ho ɔfotufo bi susuw eyi ho ansa na woasi gyinae biara.

Asetra te dɛn wɔ Peutz-Jeghers Syndrome ho? (Nsusuwii) .

Wontumi nsa Peutz-Jeghers Syndrome (PJS) yare no. Ɛyɛ tebea a ɛba wo nkwa nna nyinaa mu na wubetumi de akɔma wo mma. Sɛ wowɔ PJS a, ɛsɛ sɛ wɔtaa hwɛ sɛ polyps anaa, efisɛ ebetumi abɛyɛ kokoram anaasɛ ɛde dwensɔtwaa mu akwansiw aba a ɛsɛ sɛ wɔyɛ oprehyɛn.

Dɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Sɛ wowɔ PJS a, mma wo werɛ mmfi sɛ wubebisa wo duruyɛfo nsɛm yi:

• Sini ahorow bɛn na ebehia sɛ meyɛ? Mpɛn dodoɔ sɛn?
• Nsɛnkyerɛnne bɛn na ɛsɛ sɛ me ne wo di nkitaho ntɛm ara sɛ ɛba a?
• Ayaresa bɛn na mihia?
• Abenfo bɛn na ɛsɛ sɛ me ne wɔn yɛ adwuma?
• Ɔkwan bɛn so na PJS a menya no bɛka m’awo ho nhyehyɛe ahorow?

Ɛho hia yiye sɛ obi a ɔwɔ Peutz-Jeghers Syndrome (PJS) ne ne duruyɛfo yɛ adwuma yiye hwɛ ne tebea no so.. Sɛ wokɔ oduruyɛfo nkyɛn daa a, ɛtɔ mmere bi a ebetumi abrɛ na wabrɛ. Nanso ɛho hia sɛ wokɔ so tra w’akwahosan so. Sɛ wuhu ɔhaw bi te sɛ kokoram ntɛm a, ebetumi aboa wo kɛse ma woanya apɔwmuden, akyɛ. Wo ne wo duruyɛfo nkasa mfa sɛnea nea wɔahu no bɛka w’asetra kwan ne w’akwahosan a ɛtra hɔ kyɛ no ho asɛm.

Nneɛma a ɛsɛ sɛ yɛkae fi saa asɛm yi mu (Take-Home Message) .

Okay, enti momma yɛnbɔ nneɛma a ɛho hia paa a ɛsɛ sɛ yɛkae fa Peutz-Jeghers Syndrome (PJS) ho a yɛaka ho asɛm no mua:

• PJS yɛ awosu mu tebea a ɛma akisikuru ba nipadua no mu, nsensanee wɔ honam ani, na ɛma kokoram ho asiane kɛse .
• Ɛho hia sɛ wohwehwɛ nnuruyɛfo afotu sɛ wowɔ sɛnkyerɛnne ahorow te sɛ nsensanee tuntum a atwa w’ano ne wo nsateaa ho ahyia (titiriw wɔ mmofraase), yafunu mu yaw, ne mogya a ɛwɔ wo nsu mu a.
• Esiane sɛ eyi betumi afi awosu mu nti, sɛ obi wɔ abusua no mu a, ɛyɛ papa sɛ afoforo nso bɛyɛ awosu mu nhwehwɛmu ne afotu .
• Sɛ wowɔ PJS a, ɛho hia sɛ woyɛ nhwehwɛmu daa . Eyi betumi aboa ma wɔahu kokoram ne nsɛnnennen afoforo ntɛm.
• Ɛwom sɛ eyi yɛ tebea a ɛkɔ so wɔ wo nkwa nna nyinaa mu de, nanso sɛ aduruyɛfo hwɛ wo so yiye na wɔsa wo yare a, wubetumi atra ase sɛnea ɛsɛ . Mma wo ho nnyɛ wo hu, na mmom ma w’ani da hɔ.

Sɛ wowɔ nsɛmmisa foforo bi fa eyi ho a, wo ne wo duruyɛfo nkasa. Wobetumi de afotu a ɛfata wo ama wo.

` Peutz-Jeghers Syndrome, PJS, awosu mu yare, yafunu mu akisikuru, honam ani nsensanee, kokoram ho asiane, STK11 awosu mu abɔde, colonoscopy, endoscopy