Yu smɔl pikin gɛt smɔl smɔl dak ples dɛn rawnd in lip, insay in mɔt, ɔ na in an? Yu kin tink se na jɔs spat dɛn. Bɔt yu go sɔprayz fɔ no se dɛn spat ya kin gɛt fɔ du wit wan kayn tumbu we kin kam insay di bɔdi, mɔ na di intestinal. Tide wi go tɔk bɔt wan rare bɔt impɔtant kɔndishɔn fɔ bi aware of. Dɛn kɔl dis Peutz-Jeghers Syndrome, ɔ PJS fɔ shɔt tɛm.
Fɔ tɔk am simpul wan, wetin na Peutz-Jeghers Syndrome (PJS)?
Peutz-Jeghers Syndrome (PJS) na wan jεnεtik kכndyushכn we de mek sכm sכm sכm tin dεm we de gro (polyps) insay wi bכdi εn dak spat dεm de apia na wi skin εn insay wi mכt. di bεst pat na dat dεn growth εn spat dεm ya nכto kansa (benign) . Bɔt di prɔblɛm na dat pipul dɛn we gɛt PJS kin gɛt bɔku bɔku kansa tumara bambay pas ɔda pipul dɛn.
dεn dak spat dεm (dεn kכl dεm fכ mεdikal `mucocutaneous hyperpigmentation`) dεn kin si dεm we dεn sכm pikin. Bɔt dɛn kin dɔn smɔl smɔl as wi de ol. di kayn tכmכro we a mεnshכn (`hamartomatous polyps`) kin divεlכp bכku tεm na wi dijestiv sistεm (`gastrointestinal tract`). Dat min se, na say dɛn lɛk di smɔl intestinal, di bɛlɛ, ɛn di kɔlon . Bɔt wan wan tɛm, dɛn kin kam bak na say dɛn lɛk di kidni, blad, lɔng, ɛn nos. Dɛn tumbu ya kin mek difrɛn prɔblɛm dɛn, ɛn sɔntɛnde dɛn kin tɔn to kansa.
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 dis sik kin bɔku?
Dis na tin we nɔ kin apin so ɔltɛm. Pan ɔl we dɛn nɔ no ɔmɔs pipul dɛn gɛt am, sɔm pipul dɛn we de stɔdi bɔt dis tɔk se i kin afɛkt bitwin wan pan ɛvri 300,000 ɛn wan pan ɛvri 25,000 pipul dɛn .
Wetin na di sayn dɛm fɔ PJS?
PJS kin mεntal mek dak spat (insay pikin) εn polyp (insay pikin εn big pipul). Lɛ wi luk dɛn sayn ya wan bay wan.
| Tayp fɔ di simptom | Tin dɛn fɔ si |
|---|---|
| Dak Spɔt dɛn | Pikin dɛn we gɛt PJS kin gɛt blu-grey ɔ brawn spat. Sɔm pipul dɛn kin mistek kɔl dɛn tin ya fɔ jɔs frek. Dɛn kin apin we dɛn ol 1-2 ia ɛn dɛn kin dɔn we dɛn ol 18-19 ia. Dɛn smɔl, dɛn kin gɛt lɛk 1 to 5 milimita. Dɛn spat ya kin si mɔ na di:
|
| Di simptom dɛm wae pɔrsin kin gɛt | di simptom dεm fכ di dijestiv sistεm tכmכro kin apin bitwin 10 εn 30 ia.
|
Wetin mek dis PJS de divɛlɔp? Wetin na di kɔz?
כl di pipul dεm we gεt PJS gεt mכtεshכn na wan jin we dεn kכl STK11. STK11 na wan tכmכro suprεsכr jin . Fɔ tɔk am simpul wan, di wok we dis jin de du na fɔ kɔntrol di we aw di sɛl dɛn we de na wi bɔdi de gro we wi nɔ ebul fɔ kɔntrol.
Tink bɔt dis jin as layt switch. i de כf di "layt" we de kכntro di sεl dεm we de gro. we dis jin nכ de wok fayn, i kin lεk se di switch brok εn di layt de כltεm. Bikɔs nɔbɔdi nɔ de fɔ stɔp di sɛl dɛn fɔ gro, dɛn kin kɔntinyu fɔ sheb ɛn gro togɛda, ɛn mek tumbu dɛn.
bכt 80% pan di pipul dεm we gεt PJS kin gεt dis jin mכtεshכn frכm dεn mama כ papa. di rεst 20% kin gεt nכ famili histri fכ di sik, bכt dεn kin divεlכp dis jin mכtεshכn dεm sεf. sכm pipul dεn de divεlכp PJS we nכ chenj na di STK11 jin. Sayɛnsman dɛn nɔ no yet di rayt we.
Aw dis sik kin kɔmɔt frɔm wisɛf?
Bɔku tɛm, pikin kin gɛt dis jin we dɔn chenj frɔm wan mama ɔ papa. i de inhεrit insay wan ``autosomal dominant`` patεn. dis min se if di mama כ di papa gεt dis כltεr ``STK11`` jin, di pikin de pan inkrεs risk fכ divεlכp PJS simptom dεm εn kכmplikεshכn dεm. if yu gεt dis jin mכtεshכn, yu pikin gεt 50% chans fכ gεt am.
Wetin na di pɔsibul kɔmplikeshɔn dɛm fɔ PJS?
Di prɔblɛm we rili siriɔs na kansa .Risach pipul dɛn se pɔsin we gɛt PJS kin gɛt kansa insay in layf we kin rich 93% . Na dat mek dɔktɔ dɛn kin chɛk fɔ si if pɔsin gɛt kansa ɔltɛm ɛn tray fɔ no am kwik kwik wan.
Ɔda prɔblɛm dɛn we kin apin na:
- Intussusception: dis kin apin we big polyp na di sכmכl intestכn de push tru εn mek pat pan di intestכn bεnd insay. Dis kɔndishɔn kin afɛkt te to 69% pan pipul dɛm wae gɛt PJS.
- Smɔl bɔdi we de ambɔg: Tumɔs kin blok di smɔl intestinal. Na lɛk 50% pan di pipul dɛm we gɛt PJS kin gɛt siriɔs intestinal ɔbstrɔkshɔn we kin nid ɔpreshɔn bifo dɛn ol 20 ia.
- Blɔd we de kɔmɔt na di dijestiv trakt: Tumɔs kin put prɛshɔn pan di intestinal tisu ɛn mek blɔd kɔmɔt.
- Iron-deficiency anemia: We yu de kɔntinyu fɔ blɔd, dat kin mek di ayɔn na di bɔdi go dɔŋ, ɛn dis kin mek yu gɛt anemia.
Spɛshal kɔmplikeshɔn fɔ uman ɛn man
- uman dεm: di ovarian tכmכro dεm (sεks-kכd tכmכro dεm) εn wan kayn kεnsar we nכ kin kכmכt, we dεn kכl adenoma malignum, we de divεlכp na di sεviks. Dis kin mek i nɔ kin gɛt mɔnt ɔ i kin mek i yɔŋ kwik kwik wan.
- man dεm: dεn kin gεt tכmכro na di tεstikul dεm (Sertoli-sεl tכmכro dεm). dis kin mek di brεst divεlכp (gynecomastia), dεn kin bigin fכ bכn, εn dεn bon dεm kin gro fast pas aw i nכmal, we kin mek dεn sכt.
PJS ɛn kansa risk
PJS de mek di risk fכ gεt kεnsar na di dijestiv sistεm εn כda כgan dεm na di bכdi bכku bכku wan. Di avrej ej we dɛn kin no se pɔsin we gɛt PJS gɛt kansa na lɛk 42 ia.
| Di kayn kansa we yu gɛt | Insidɛns rɛt fɔ PJS pasɛnt dɛn |
|---|---|
| Kansa we de na di kɔlɔrɛkt | I go rich 40% . |
| Brɔst kansa | 30% - 50% . |
| Kansa na di pankrias | 11% - 36% . |
| Bɛlɛ kansa | I go rich 30% . |
| Kansa na ovarian | 20% . |
| Kansa na di lɔng | 15% . |
| Smɔl bɔdi kansa | I go rich 13% . |
Aw dɛn kin no se pɔsin gɛt PJS?
Bɔrku pipul dɛn kin no se dɛn gɛt PJS afta dɛn dɔn si dɔktɔ bikɔs ɔf sɔm sayn dɛm lɛk intestinal obstruction ɔ intussusception. Di avrej ej fɔ no di sik na lɛk 23 ia. Fɔ no if pɔsin gɛt di sik, dɔktɔ dɛn kin luk fɔ dɛn tin ya:
- enibodi na di famili geht PJS?
- Dak spat dɛn na di skin.
- If polip de na di dijestiv sistεm.
pan tap dat, dεn kin du jεnεtik tεst fכ si if yu gεt di `STK11` jin mכtεshכn.
Test fɔ no di sik
Yu dɔktɔ kin tɛl yu fɔ du difrɛn tɛst dɛn fɔ chɛk if yu gɛt tumbu dɛn na yu insay. Sɔm pan dɛn na:
- Kolonoskopi: fכ egzamin di big intestin we dεn de yuz tכb wit kεmεra.
- כp εndoskopi: fכ egzamin di εsophagus, bεlε, εn כp pat pan di sכmכl intestin.
- Kapsul ɛndoskopi: Fɔ swɛla kapsul wit smɔl kamɛra insay. Dis kamɛra de tek pikchɔ dɛn we i de travul dɔŋ di dijestiv trakt.
Yu kin tek blɔd sɛmpul bak fɔ si if yu gɛt anemia bikɔs yu nɔ gɛt ayɔn.
Wetin na di tritmɛnt dɛm fɔ PJS?
PJS nɔ kin wɛl ɔl, so di men gol fɔ tritmɛnt na fɔ wach di risk fɔ gɛt kansa ɛn fɔ mek dɛn nɔ gɛt prɔblɛm dɛn we di tumbu kin kam wit.
Dɔktɔ dɛn kin pul di tumbu dɛn na di big intestin we dɛn de du kɔlon skɔpi. dεn kin pul di tכmכro dεm bak na di bεlε εn כp pat pan di sכmכl intestin if nid de. sכmtεm, dεn kin yuz spεshal prכsidכs lεk balכn-asist εnteroskopi fכ pul di tכmכro dεm we de fכs insay di sכmכl intestin.
Sɔntɛnde, dɛn kin nid fɔ du ɔpreshɔn fɔ pul di sist.
Us skrinin dɛn a nid fɔ du ɔltɛm?
If yu gɛt PJS, yu go nid fɔ de du skrinin tɛst ɔltɛm ɔlsay na yu layf fɔ no kansa ɛn ɔda prɔblɛm dɛn kwik kwik wan. Dis kin tan lɛk se yu de mɔna yu smɔl, bɔt i rili impɔtant fɔ protɛkt yu layf.
| Test tayp | Taim fo du am |
|---|---|
| Kɔmɔn tɛst fɔ ɔlman | |
| Egzamin fɔ di smɔl intestinal (CT/MRI ɛntɛrografi ɔ vidio kapsul ɛndoskopi) . | Start we yu ol 8-10 ia, ɛn ɛvri 2-3 ia if tumor de. |
| Ɛndoskopi we de ɔp | Start we yu ol 12 ia, ɛvri ia if tumor de, ɔ ɛvri 2-3 ia. |
| Pankrias egzamin (MRCP ɔ Ɛndoskopik ɔltrasɔund) . | Start we yu ol 25-30 ia, wan tɛm ɛvri 1-2 ia. |
| Speshal tɛst fɔ uman dɛn | |
| Fɔ chɛk di bɔdi | Frɔm we yu ol 25 ia, go to dɔktɔ tu tɛm insay di ia ɛn du mammogram ɛn brɔst MRI ɛvri ia. |
| Di ɛgzamɛn dɛn we dɛn kin du fɔ uman dɛn | Pεlvik εgzam εn Pap smεr εvri ia frכm 18-20 ia. |
| Speshal tɛst fɔ man dɛn | |
| Testikul egzamin | Dɛn kin chɛk-ap ɛvri ia wit dɔktɔ frɔm we i ol 10 ia. |
Yu tink se dɛn go ebul fɔ avɔyd dis sik?
Bikɔs PJS kin kɔmɔt frɔm dɛn mama ɛn papa, natin nɔ de we wi kin du fɔ mek i nɔ de divɛlɔp.
Bɔt if yu gɛt PJS, di impɔtant tin we yu kin du na fɔ tɛl yu famili bɔt am ɛn rifer dɛn fɔ gɛt kɔyl fɔ yu jɛnɛtiks . Dɔn dɛn kin tɛst dɛn fɔ dis jin muteshon ɛn gɛt di advays we dɛn nid fɔ mek dɛn nɔ gɛt kansa.
If yu gɛt PJS, yu pikin gɛt 50% chans fɔ gɛt am. Bɔt naw we dɛn de fɔ ridyus da prɔblɛm de. fכ egzampl, if yu de bכn pikin tru in vitro fεtilayzεshכn (IVF), yu kin yuz wan tεknik we dεn kכl prεimplantεshכn jεnεtik diagnosis (PGD) fכ chεk fכ di jin mכtεshכn na di εmbrayo. Dɛn tin ya na kɔmpleks ɛn dɛn kin dia, so i impɔtant fɔ tɔk to yu dɔktɔ bɔt dis.
Mɛsej we dɛn kin kɛr go na os
- Peutz-Jeghers Syndrome (PJS) na wan sik we dɛn kin gɛt frɔm dɛn mama ɛn papa.
- dis kin mek dak spat dεm fכm na di skin we i yכng, spεshal wan arawnd di lip dεm εn insay di mכt.
- di tin dεm we nכ de gro (polyps) de fכm na di dijestiv sistεm, we kin mek kכmplikεshכn dεm lεk bεlε pen, bכdi we de bכn, εn intestinal bכku.
- Pɔsin we gɛt PJS gɛt rili ay risk fɔ gɛt kansa insay in layf.
- Pan ɔl we dɛn nɔ go ebul fɔ mɛn dis sik, if dɛn de du mɛdikal ɛgzamɛn (skrinin) ɔltɛm, dɛn kin no di prɔblɛm dɛn ɛn kansa kwik kwik wan ɛn dɛn kin sev layf. I rili impɔtant fɔ de tɔk to yu dɔktɔ.
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