Sɔntɛnde, tin kin apin to wi bɔdi we wi nɔ de ɛkspɛkt, nɔto so? Imajin se yu ɔ yu pikin gɛt smɔl smɔl dak dak say dɛn na yu skin, mɔ rawnd yu mɔt, ɛn yu gɛt bɛlɛ prɔblɛm bak. Sɔntɛm dɛn tin ya nɔ go simpul lɛk aw yu tink. Tide wi go tɔk bɔt wan sik we de sho di sem kayn sik, we nɔ kin apin smɔl, bɔt i rili impɔtant fɔ no bɔt. Dat na di sik we dɛn kɔl Peutz-Jeghers Syndrome (PJS).
Wetin na di sik we dɛn kɔl Peutz-Jeghers Syndrome (PJS)? Lɛ wi ɔndastand am simpul wan!
Fɔ tɔk am simpul wan, Peutz-Jeghers Syndrome (PJS) na wan sik we kin mek smɔl smɔl tin dɛn we de gro (polyps) insay yu bɔdi, ɛn bak dak kɔlɔ spat dɛn na yu fes, an, ɛn yu fut dɛn. Dɛn tu tin ya we de gro ɛn we gɛt spat nɔto rili kansa, we min se dɛn nɔ gɛt wan prɔblɛm . Bɔt if yu gɛt PJS, dat kin mek yu gɛt kansa bad bad wan.
dεn dak spat dεm (dεn kכl dεm fכ mεdikal ``mucocutaneous hyperpigmentation'') dεn kin si pan yכŋ pikin dεm we gεt PJS, bכt dεn kin fεd sכmtεm as tεm de go. di kayn growth dεm we a mεnshכn (dεn kכl am ``hamartomatous polyps'') kin divεlכp na yu dijestiv trakt (``(GI tract)''). Dɛn kin si dɛn mɔ na yu smɔl intestinal, bɛlɛ, ɛn big intestinal (``(colon)''). Bɔt dɛn kin divɛlɔp bak ausayd di dijestiv trakt, lɛk na yu kidni, blad, lɔng, ɛn nos. Dɛn growth ya kin bi kansa ɛn mek difrɛn kɔmplikɛshɔn dɛn we nid fɔ gɛt tritmɛnt.
If yu gɛt PJS, yu dɔktɔ go de chɛk ɔltɛm fɔ si if yu gɛt kansa ɛn if yu gɛt tumbu dɛn we gɛt bɔku prɔblɛm.
Aw kɔmɔn dis PJS kɔndishɔn?
I at fɔ tɔk klia wan aw kɔmɔn Peutz-Jeghers Syndrome (PJS), bikɔs di wan dɛn we de du risach nɔ gɛt di rayt nɔmba yet. Bɔt dɛn tink se i kin afɛkt ɛnisay frɔm 1 pan ɛvri 300,000 to 1 pan ɛvri 25,000. So, yes, na wan sik we nɔ kin apin so ɔltɛm .
Wetin na di sayn dɛm fɔ PJS? Aw yu no am?
PJS kin mεntal mek dak spat (dεn kin si dεn tin ya pan yכŋ pikin dεm) εn di wan dεm we dεn kכl ``hamartomatous polyps'' (dεn kin si dεn ya pan yכŋ pikin dεm εn big pipul dεm).
Dak ples dɛn:
Yɔŋ pikin dɛn we gɛt Peutz-Jeghers Syndrome kin gɛt blu-grey ɔ brawn spat. Sɔntɛnde, dɛn kin mistek kɔl dɛn tin ya fɔ frek. dis spat dεm kin bigin fכ apia we di pikin ol 1-2 ia εn sכmtεm dεn kin fεd we i rich dεn let tεn. Dɛn spat ya kin gɛt sayz frɔm 1 mm (we na lɛk di sayz we pensil tip we dɛn shap) to 5 mm (we tan lɛk pensil iras). Dɛn kin apia na difrɛn pat dɛn na di bɔdi:
- Na di lip ɔ rawnd di lip (dis na di wan we kɔmɔn pas ɔl) .
- Insay di mɔt
- Nos
- Arawnd di yay dɛn
- Finga dɛn
- Ol
- Di bɔt dɛn we de dɔŋ
- Arawnd di anus
di simptom dεm we di tכmכro dεm na di dijestiv trakt de kכz:
ɔda sayn dɛm kin gɛt fɔ du wit di growth (polyps) na di dijestiv sistɛm (espɛshali na di intestines ɔ bɛlɛ), ɔ di kɔmplikɛshɔn dɛm we kin kam bikɔs ɔf dɛn growth dɛm. Dɛn sayn ya kin apin wae yu ol bitwin 10 ɛn 30. Di sayn dɛm wae kin kam wae yu de gro na:
- Bɛlɛ pen (`(Bɛlɛ pen)`)
- Nɔs ɛn vɔmit (`(Nɔs ɛn vɔmit)`)
- Gεstrointestinal bכdi (`(Gastrointestinal bכdi)`)
- Blɔd na yu stɔl (`(Blɔd na yu stɔl)`)
- Anemia (di ayron lɛvɛl na di bɔdi kin go dɔŋ bikɔs ɔf di blɔd we de kɔmɔt ɔltɛm) .
Wetin kin mek pɔsin gɛt PJS?
כl di pipul dεm we gεt Peutz-Jeghers Syndrome gεt mכtεshכn (כ chenj) insay wan kכpi fכ wan jin we dεn kכl ``STK11''. dis ``STK11'' na tכmכro sכpreshכn jin. In ɔda wɔd dɛn, dis jin tan lɛk swich we de kɔntrol di we aw di sɛl dɛn de gro. If dis jin nɔ de wok fayn, i tan lɛk layt we de shayn ɔltɛm ɛn we nɔ gɛt ɛnibɔdi fɔ ɔf am. di sεl dεm de kכntinyu fכ sheb εn gro, dεn de jכyn togeda fכ mek tכmכro.
Na lɛk 80% pan di pipul dɛm we gɛt PJS dɔn gɛt di jin muteshon frɔm dɛn mama ɛn papa, we min se dɛn gɛt am frɔm dɛn mama ɔ papa. di ɔda 20% gɛt di muteshon, bɔt nɔrbɔdi na dɛn famili nɔr gɛt dis sik bifo, ɔr sɔm pipul dɛn nɔr gɛt di muteshon atɔl. Pipul dεm we gεt di `(STK11)` jin mכtεshכn we nכ gεt famili histri go lεk dεn bin gεt di mכtεshכn na sכm tεm na dεn layf. כltu, sayɛnsman dεm stil nכ gεt klia aidia fכ aw PJS de divεlכp witout di `(STK11)` jin mכtεshכn.
Aw PJS kɔmɔt frɔm di layn?
כltu, pikin kin gεt di PJS jin frכm in mama εn papa we gεt di jin mכtεshכn. di mכtayshכn we de mek PJS de inhεrit insay wan כtosom dכminant patεn.
i kin apin lεk dis: di mama εn papa dεn tu kin pas wan kכpi fכ di jin `(STK11)` to dεn pikin. If yu de pan risk fɔ gɛt PJS simptom ɛn kɔmplikeshɔn dɛn, yu fɔ dɔn gɛt dis mutated jin frɔm wan mama ɔ papa nɔmɔ.
If yu gɛt dis jin muteshon, 50% chans de fɔ mek yu pikin sɛf gɛt am.
Wetin na di pɔsibul kɔmplikeshɔn dɛm fɔ PJS?
Di prɔblɛm we kin apin we dis kin rili siriɔs na kansa . Risach pipul dɛm se if yu gɛt PJS, yu layf tɛm risk fɔ gɛt kansa kin rich 93%. Na dat mek yu dɔktɔ go de chɛk yu fɔ kansa ɔltɛm. Da we de, dɛn kin no am kwik ɛn trit am.
Ɔda prɔblɛm dɛn we kin apin na:
- Intussusception of the small bowel : Dis na we wan pat pan yu smɔl intestin de fold insay, lɛk sɔk we de rɔl insay. dis kin apin we wan big growth (polyp) de tray fכ muv tru di intestכn. Dis kɔndishɔn kin afɛkt te to 69% pan pipul dɛm wae gɛt PJS.
- Smɔl bɔdi we de ambɔg (`(Smɔl bɔdi we de ambɔg)`): Dat tumor kin blok yu smɔl intestin. Na lɛk 50% pan di pipul dɛm we gɛt PJS go gɛt intestinal blɔk we go nid ɔpreshɔn bifo dɛn rich 20 ia.
- di bכdi we de bכn na di bכdi : di tכmכro kin put prεshכn pan di tisu dεm na di dijestiv trakt, we kin mek i bכn.
- Iron-deficiency anemia: If yu kɔntinyu fɔ blɔd, dat kin mek di ayron lɛvɛl na di bɔdi go dɔŋ, ɛn dis kin mek yu gɛt anemia.
pan uman dεm, wan kayn ovarian tכmכro we dεn kכl ``sεks-kכd tכmכro'' εn wan kayn sεvikal kεnsar we nכ kin apin we dεn kכl ``adenoma malignum'' kin divεlכp. dis tכmכro dεm kin mek di mεnstral saykl dεm nכ de rεgulεr εn i kin mek di pikin bigin fכ bכn.
man dεm kin divεlכp tכmכro dεm we de fכ di sεks-kכd εn Sertoli-sεl tכp na dεn tεstikul dεm. dis kin mek dεn gεt brεst (gynecomastia), go tru puberty kwik, εn dεn bon dεm kin gro fast pas nכmal (advanced skeletal age), εn dεn kin sכt pas nכmal.
Wetin na di risk fɔ gɛt kansa we gɛt fɔ du wit PJS?
Peutz-Jeghers Syndrome (PJS) de mek yu gɛt kansa na di dijestiv sistɛm ɛn ɔda ɔgan dɛm. If pɔrsin wae gɛt PJS gɛt kansa, dɛn kin no am arawnd di ej 42. Na di kayn kansa wae kin pasmak pan pipul dɛm wae gɛt PJS ɛn dɛn rit:
- Kolorektal kansa: I kin rich 40%.
- Brest kansa: 30% to 50%.
- Pankrias kansa (`(Pankrias kansa)`): 11% to 36%.
- Bɛlɛ kansa: I kin rich 30%.
- Ovarian kansa (`(Ovarian kansa)`): 20%.
- Lכng kεnsar (`(Lכng kεnsar)`): 15%.
- Smɔl bɔdi kansa (`(Smɔl bɔdi kansa)`): I kin rich 13%.
- Sεvikal kεnsar (`(Sεvikal kεnsar)`): 10%.
- uterin kansa: I nɔ rich 10%.
- Testikul kansa: I nɔ rich 10%.
- Kansa na di εsophageal: 2%.
Nɔr frayd wae yu si dɛn risk pasɛnt ya. Di tin we impɔtant pas ɔl na fɔ mek dɛn tɛst yu di rayt tɛm. Dɔn, if ɛnitin de, dɛn kin no am ɛn trit am kwik kwik wan.
Aw fɔ no if pɔsin gɛt PJS? (Diagnosis) .
Bɔrku pipul dɛm wae dɛn no se gɛt PJS kin go to dɔktɔ bikɔs dɛn gɛt sayn dɛm wae de sho se dɛn gɛt bɔdi we nɔ de ambɔg (bɔwel we nɔ de ambɔg) ɔ we de mek pɔsin in bɔdi nɔ ebul fɔ waka (intestinal intussusception). Di avrej ej wae dɛn kin no PJS na lɛk 23 ia. Dɔktɔ dɛn kin luk fɔ dɛn tin ya fɔ no if pɔsin gɛt PJS:
- Istri bɔt if ɛnibɔdi na di famili gɛt PJS.
- Dak spat dɛn na di bɔdi.
- Polips na di dijestiv trakt.
כlso, dεn de chεk fכ si if mכtεshכn de na di `(STK11)` jin.
Us tɛst dɛn kin du fɔ no dis sik?
Yu dɔktɔ kin du difrɛn we dɛn fɔ tek pikchɔ, mɔ di tɛst dɛn we yu kin yuz tiub wit kamɛra (skɔp) fɔ luk fɔ tɔmɔs dɛn we de insay yu ɛsophagus. Dɛn tɛst ya kin bi:
- Kolonoskopi : Dis de egzamin yu big intestin.
- כp εndoskopi : Dis de egzamin yu εsophagus, bεlε, εn כp pat pan di sכmכl intestin.
- `(Capsule endoscopy)` : Insay dis, yu de swɛla kapsul we gɛt smɔl kamɛra pan am. I de tek pikchɔ as i de pas na yu dijestiv sistɛm.
Yu kin tek blɔd sɛmpul bak fɔ chɛk fɔ si if yu gɛt ayɔn-deficiency anemia. Yu kin du jenɛtik tɛst bak pan yu blɔd fɔ no if yu gɛt di STK11 jin muteshon.
Aw dɛn kin trit di sik we dɛn kɔl Peutz-Jeghers Syndrome (PJS)?
Yu dɔktɔ dɛn go mɔs de wach yu ɔgan dɛn, we min se dɛn fɔ chɛk fɔ si if yu gɛt kansa ɔ ɔda prɔblɛm dɛn we di tumbu kin kam wit.
Kolonoskopi kin pul di tכmכro dεm na di big intestin. if nid de, dεn kin tek di tכmכro dεm na di bεlε εn כp pat pan di sכmכl intestin (duodenum) bak εn pul dεm. Sɔntɛnde, dɛn kin yuz wan tɛst we dɛn kɔl balloon-assisted enteroscopy fɔ si ɛn pul di tumbu dɛn we de dip dip wan na di smɔl intestinal.
Sɔntɛnde, dɛn kin nid fɔ du ɔpreshɔn fɔ pul di tumbu dɛn. Bɔku tɛm, dɔktɔ dɛn we de du ɔpreshɔn kin pul di tumbu dɛn wan bay wan, ɛn dɛn nɔ kin pul sɔm pat dɛn na di intestinal.
Us kayn skrinin a go gɛt fɔ du?
Dis na di pat we impɔtant pas ɔl. If yu gɛt PJS, yu go gɛt fɔ du difrɛn tɛst dɛn ɔltɛm. Pan ɔl we dis kin tan lɛk se i de mɔna yu smɔl, i rili impɔtant fɔ protɛkt yu wɛlbɔdi.
Di jenɛral tɛst schedule na lɛk dis:
- `(CT/MRI ɛntɛrografi)` ɔ `(vidio kapsul ɛndoskopi)` :
- I fɔ bigin we i ol 8-10 ia. If tumor de, ripit am ɛvri 2-3 ia.
- If no tumor nɔ de, wet te yu ol 18 ia ɛn bigin fɔ tɛst am bak, dɔn du am ɛvri 2-3 ia.
- If i tu let, yu fɔ bigin we yu ol 12. If yu gɛt frut, du am ɛvri ia, ɔ ɛvri 2-3 ia.
- `(Opa endoskopi)` : 1.
- Yu fɔ bigin we yu ol 12. If yu gɛt nɛt, du am ɛvri ia, ɔ ɛvri 2-3 ia.
- `(Magnetik rεsכnans kolεnjכpankrεatografi (MRCP))` כ `(εndoskopik כltra saund)` :
- Start we yu ol 25-30 ia, i fɔ du am ɛvri 1-2 ia.
Speshal tɛst fɔ uman dɛn:
- Frɔm we yu ol 25 ia, mek dɔktɔ du yu bɔdi ɛgzam tu tɛm insay di ia.
- Start we yu ol 25 ia, go tek mammogram ɛn breast MRI ɛvri ia.
- Frɔm 18 to 20 ia, du ɛgzam na yu bɛlɛ ɛn Pap smia ɛvri ia.
- frכm di ej 18 to 20, εvri ia dεn kin du ``transvaginal ultrasound`` (dis nכ nid, pan mεdikal advays).
Speshal tɛst fɔ man dɛn:
- Frɔm we yu ol 10 ia, yu fɔ gɛt tɛstikul ɛgzam ɛvri ia. Yu fɔ no bak bɔt ɛni chenj we de mek uman uman, lɛk di we aw di bɔdi de gro.
Yu tink se dɛn kin ebul fɔ avɔyd di sik we dɛn kɔl Peutz-Jeghers Syndrome (PJS)?
Bikɔs PJS na tin we pɔsin kin gɛt frɔm in mama ɛn papa, natin nɔ de we yu kin du fɔ mek i nɔ divɛlɔp.
Bɔt tin dɛn de we yu go ebul fɔ du. If yu gɛt PJS, mek ɔda pipul dɛn na yu famili no bɔt am ɛn ɛnkɔrej dɛn fɔ gɛt kɔyl fɔ yu jɛnɛtiks. dis evalueshכn go chεk fכ di PJS jin mכtεshכn. If dεn gεt di STK11 jin mכtεshכn bak, dεn go gεt rεkomεndεshכn fכ εp fכ prεvεnt kεnsar εn fכ hεlth.
If yu gɛt PJS, 50% chans de fɔ mek yu pikin gɛt di jin muteshon bak. Bɔt sɔm tin dɛn de we yu kin du fɔ ridyus da prɔblɛm de.
fכ egzampl, if yu de yuz in vitro fεtilayzεshכn (IVF) fכ bכn pikin, yu kin tray fכ tray wan prכsidכm we dεn kכl prεimplantεshכn jεnεtik diagnosis (PGD). PGD involv fכ tεst fεtilayz εmbriyo dεm fכ jεnεtik mכtεshכn.
Bɔt PGD na kɔmpleks ɛn i dia, so i bɛtɛ fɔ tɔk bɔt dis wit wan jenɛtik kɔlnɔ bifo yu disayd fɔ du ɛnitin.
Aw layf tan lɛk wit Peutz-Jeghers Syndrome? (Autluk) .
Dɛn nɔ kin ebul fɔ mɛn di sik we dɛn kɔl Peutz-Jeghers Syndrome (PJS). Na tin wae kin apun to yu pikin dɛm fɔ yu layf ɔl ɛn yu kin pas am to yu pikin dɛm. If yu gɛt PJS, dɛn fɔ de chɛk yu ɔltɛm fɔ si if yu gɛt pɔlip, bikɔs dɛn kin gɛt kansa ɔ mek yu gɛt prɔblɛm wit yu intestinal we yu nid fɔ du ɔpreshɔn.
Wetin a fɔ aks mi dɔktɔ?
If yu gɛt PJS, nɔ fɔgɛt fɔ aks yu dɔktɔ dɛn kwɛstyɔn ya:
- Us kayn skrinin a go nid fɔ gɛt? Ɔmɔs tɛm?
- Us simptom dɛm a fɔ kɔntakt yu wantɛm if dɛn apin?
- Us kayn tritmɛnt a nid?
- Us kayn spɛshal pipul dɛn a go gɛt fɔ wok wit?
- Aw fɔ gɛt PJS go afɛkt mi fεtiliti plan dɛm?
I rili impɔtant fɔ mek pɔrsin wae gɛt Peutz-Jeghers Syndrome (PJS) woke klos wit in dɔktɔ fɔ wach aw dɛn de fil.. Fɔ go to dɔktɔ ɔltɛm kin mek yu taya ɛn yu kin taya sɔntɛnde. Bɔt i impɔtant fɔ de ɔp yu wɛlbɔdi. If yu no bɔt wan prɔblɛm lɛk kansa kwik kwik wan, dat kin go fa fɔ ɛp yu fɔ liv wɛl, lɔng layf. Tɔk to yu dɔktɔ bɔt aw di sik we yu gɛt go afɛkt yu layf ɛn wɛlbɔdi fɔ lɔng tɛm.
Tin dɛn we wi fɔ mɛmba frɔm dis stori (Take-Home Message)
Okay, so lɛ wi sɔmariz sɔm pan de impɔtant tin dɛm fɔ mɛmba bɔt Peutz-Jeghers Syndrome (PJS) wae wi dɔn tɔk bɔt:
- PJS na wan sik we de mek pɔsin gɛt tumbu insay di bɔdi, gɛt spat na di skin, ɛn i kin mek i gɛt kansa .
- I impɔtant fɔ go to dɔktɔ if yu gɛt sɔm sayn dɛn lɛk dak dak ples rawnd yu mɔt ɛn na yu an ɛn fut (espɛshali we yu smɔl), bɛlɛ pen, ɛn blɔd na yu stɔl.
- Bikɔs dis kin kɔmɔt frɔm dɛn mama ɛn papa, if sɔmbɔdi na di famili gɛt am, i go fayn fɔ mek ɔda pipul dɛn bak gɛt tɛst fɔ no bɔt dɛn jɛnɛtiks ɛn fɔ advays dɛn .
- If yu gɛt PJS, i impɔtant fɔ mek yu gɛt skrinin ɔltɛm . Dis kin ɛp fɔ no kansa ɛn ɔda prɔblɛm dɛn kwik kwik wan.
- Pan ɔl we dis na sik we yu go gɛt fɔ yu layf ɔl, if di dɔktɔ de kia fɔ yu ɛn gɛt di rayt tritmɛnt, yu go ebul fɔ liv nɔmal layf . Nɔ panik, bɔt na fɔ wach.
If yu gɛt ɛni ɔda kwɛstyɔn bɔt dis, tɔk to yu dɔktɔ. Dɛn kin gi yu advays we fayn fɔ yu.
` Peutz-Jeghers Syndrome, PJS, jεnεtik sik, gεstrointestinal tכmכro, skin spat, kεnsar risk, STK11 jin, kכlonoskopi, εndoskopi
💬 Comments (0)
No kɔmɛnt nɔ de yet. Ad yu kɔmɛnt ya fɔ di fɔs tɛm.
Ad yu kɔmɛnt