Kodi mukupeza madontho ang'onoang'ono pathupi lanu ndi zotupa m'mimba mwanu? Tiyeni tiphunzire za Peutz-Jeghers Syndrome (PJS)!

Nthawi zina zinthu zingachitike m'thupi mwathu zomwe sitikuyembekezera, sichoncho? Tangoganizani kuti inu kapena mwana wanu muli ndi mawanga ang'onoang'ono akuda pakhungu lanu, makamaka kuzungulira pakamwa, ndipo mulinso ndi mavuto am'mimba. Zinthu izi sizingakhale zosavuta monga momwe mukuganizira. Lero tikambirana za vuto lomwe limasonyeza zizindikiro zofanana, zomwe sizimachitika kawirikawiri, koma ndikofunikira kudziwa. Imeneyo ndi Peutz-Jeghers Syndrome (PJS).

Kodi Peutz-Jeghers Syndrome (PJS) ndi chiyani? Tiyeni timvetse mosavuta!

Mwachidule, Peutz-Jeghers Syndrome (PJS) ndi matenda omwe amachititsa kuti tinthu tating'onoting'ono (polyps) tipangidwe m'thupi lanu, komanso mawanga akuda pankhope panu, m'manja, ndi m'mapazi mwanu. Mawanga onsewa si khansa kwenikweni, zomwe zikutanthauza kuti ndi abwino . Komabe, kukhala ndi PJS kumawonjezera kwambiri chiopsezo chanu chokhala ndi khansa.

Madontho akuda awa (omwe amatchedwa ``mucocutaneous hyperpigmentation'') amapezeka mwa ana aang'ono omwe ali ndi PJS, koma pang'onopang'ono amatha pang'onopang'ono pakapita nthawi. Mtundu wa zotupa zomwe ndatchulazi (zotchedwa ``hamartomatous polyps'') nthawi zambiri zimayamba m'mimba mwanu (``(GI tract)''). Kawirikawiri zimapezeka m'matumbo anu ang'onoang'ono, m'mimba, ndi m'matumbo akulu (``(colon)''). Komabe, zimathanso kufalikira kunja kwa matumbo, monga impso zanu, chikhodzodzo, mapapo, ndi mphuno. Zotupazi zimatha kukhala khansa ndipo zimayambitsa mavuto osiyanasiyana omwe amafunika chithandizo.

Ngati muli ndi matenda a PJS, dokotala wanu nthawi zonse amafufuza khansa ndi zotupa zomwe zili pachiwopsezo chachikulu.

Kodi vuto la PJS limeneli ndi lofala bwanji?

N'zovuta kunena momwe Peutz-Jeghers Syndrome (PJS) imakhalira yofala, chifukwa ofufuza sanadziwebe ziwerengero zenizeni. Koma akuganiza kuti ingakhudze munthu mmodzi pa anthu 300,000 mpaka mmodzi pa anthu 25,000. Chifukwa chake, inde, ndi vuto losowa kwambiri .

Kodi zizindikiro za PJS ndi ziti? Kodi mumazindikira bwanji?

PJS imayambitsa makamaka mawanga akuda (izi zimawoneka mwa ana aang'ono) ndi zomwe zimatchedwa ``hamartomatous polyps'' (izi zitha kuwoneka mwa ana aang'ono ndi akuluakulu).

Madontho amdima:

Ana aang'ono omwe ali ndi Peutz-Jeghers Syndrome amakhala ndi madontho abuluu-imvi kapena abulauni. Nthawi zina awa amaganiziridwa kuti ndi madontho akuda. Madonthowa nthawi zambiri amayamba kuonekera mwana ali ndi zaka 1-2 ndipo pang'onopang'ono amafota akamafika kumapeto kwa zaka zaunyamata. Madonthowa amatha kukula kuyambira 1 mm (pafupifupi kukula kwa nsonga ya pensulo yowongoka) mpaka 5 mm (pafupifupi kukula kwa chofufutira pensulo). Amatha kuwoneka m'malo osiyanasiyana a thupi:

• Pa milomo kapena mozungulira (imeneyi ndiyo yofala kwambiri)
• Mkati mwa pakamwa
• Mphuno
• Pozungulira maso
• Zala
• Gwirani
• Mabotolo
• Mozungulira mphuno

Zizindikiro zomwe zimayambitsidwa ndi zotupa m'mimba:

Zizindikiro zina zimakhudzana ndi kukula (polyps) m'mimba (makamaka m'matumbo kapena m'mimba), kapena mavuto omwe amabwera chifukwa cha kukulako. Zizindikirozi nthawi zambiri zimawonekera mukakhala ndi zaka zapakati pa 10 ndi 30. Zizindikiro zomwe zingayambitsidwe ndi kukulaku ndi monga:

• Kupweteka m'mimba (`(Kupweteka m'mimba)`)
• Kusanza ndi kusanza (`(Kusanza ndi kusanza)`)
• Kutuluka magazi m'mimba (`(Kutuluka magazi m'mimba)`)
• Magazi mu ndowe zanu (`(Magazi mu ndowe zanu)`)
• Kuchepa kwa magazi m'thupi (kuchuluka kwa chitsulo m'thupi kungachepe chifukwa cha kutuluka magazi pafupipafupi)

Kodi n’chiyani chimayambitsa PJS?

Anthu ambiri omwe ali ndi Peutz-Jeghers Syndrome ali ndi kusintha kwa majini (kapena kusintha) mu kopi imodzi ya jini yotchedwa ``STK11''. ``STK11'' iyi ndi jini yoletsa khansa. Mwanjira ina, jini iyi ili ngati switch yomwe imalamulira kukula kwa maselo. Ngati jini iyi sikugwira ntchito bwino, ili ngati nyali yomwe imakhala yoyaka nthawi zonse ndipo palibe woyizimitsa. Maselo amapitiriza kugawikana ndikukula, kugwirizana kuti apange zotupa.

Pafupifupi 80% ya anthu omwe ali ndi PJS adalandira kusintha kwa majini kuchokera kwa makolo awo, zomwe zikutanthauza kuti amalandira kuchokera kwa amayi awo kapena abambo awo. Ena 20% ali ndi kusintha kwa majini, koma palibe m'banja mwawo amene adakhalapo ndi vutoli kale, kapena anthu ena alibe kusintha konse. Anthu omwe ali ndi kusintha kwa majini `(STK11)` opanda mbiri ya banja mwina adakhalapo ndi kusintha kwa majini nthawi ina m'miyoyo yawo. Komabe, asayansi sakudziwa bwino momwe PJS imakulira popanda kusintha kwa majini `(STK11)`.

Kodi PJS imachokera bwanji ku mzera wa makolo?

Kawirikawiri, mwana amalandira jini ya PJS kuchokera kwa kholo lomwe lili ndi kusintha kwa jini. Kusintha komwe kumayambitsa PJS kumalandira mu autosomal dominant pattern.

Zimachitika motere: Makolo onse awiri amapereka kopi imodzi ya jini `(STK11)` kwa mwana wawo. Ngati muli pachiwopsezo chachikulu chokhala ndi zizindikiro ndi zovuta za PJS, muyenera kuti mwalandira jini yosinthika iyi kuchokera kwa kholo limodzi lokha.

Ngati muli ndi kusintha kwa majini kumeneku, pali mwayi wa 50% kuti mwana wanunso akhale nako.

Kodi mavuto omwe angakhalepo chifukwa cha PJS ndi ati?

Vuto lalikulu kwambiri la izi ndi khansa . Ofufuza amati ngati muli ndi PJS, chiopsezo chanu cha khansa pa moyo wanu wonse chikhoza kufika pa 93%. Ndicho chifukwa chake dokotala wanu adzakuyezani khansa nthawi zonse. Mwanjira imeneyi, ikhoza kuzindikirika msanga ndikuchiritsidwa.

Mavuto ena ndi awa:

• Kulowa m'matumbo ang'onoang'ono : Izi zimachitika pamene gawo la matumbo ang'onoang'ono limapinda mkati, ngati sokisi ikugubuduzika mkati. Izi zimachitika pamene chotupa chachikulu (polyp) chikuyesera kuyenda m'matumbo. Matendawa amatha kukhudza anthu 69% omwe ali ndi PJS.
• Kutsekeka kwa matumbo ang'onoang'ono (`(Kutsekeka kwa matumbo ang'onoang'ono)`): Chotupa chimenecho chingatseke matumbo anu ang'onoang'ono. Pafupifupi 50% ya anthu omwe ali ndi PJS amakhala ndi matumbo otsekeka omwe amafunika opaleshoni asanakwanitse zaka 20.
• Kutuluka magazi m'mimba : Zotupa zimatha kukakamiza minofu ya m'mimba, zomwe zimayambitsa kutuluka magazi.
• Kuchepa kwa magazi m'thupi chifukwa cha kusowa kwa ayoni: Kutuluka magazi nthawi zonse kungayambitse kuchepa kwa chitsulo m'thupi, zomwe zimapangitsa kuti magazi asapitirire.

Mwa akazi, mtundu wa chotupa cha mazira otchedwa ``sex-cord tumors'' ndi mtundu wosowa komanso woopsa wa khansa ya pachibelekero yotchedwa ``adenoma malignanum'' ukhoza kuyamba. Zotupa zimenezi zingayambitse kusakhazikika kwa msambo komanso kutha msinkhu msanga.

Amuna amatha kukhala ndi zotupa zamtundu wa sex-cord ndi Sertoli-cell m'machende awo. Izi zingapangitse kuti ayambe kumera mabere (gynecomastia), kutha msinkhu msanga, ndipo mafupa awo amatha kukula mofulumira kuposa masiku onse (zaka zapamwamba za mafupa), ndipo akhoza kukhala afupiafupi kuposa masiku onse.

Kodi chiopsezo cha khansa chokhudzana ndi PJS ndi chiyani?

Matenda a Peutz-Jeghers (PJS) amawonjezera chiopsezo chanu chokhala ndi khansa ya m'mimba ndi ziwalo zina. Ngati munthu amene ali ndi PJS ali ndi khansa, nthawi zambiri amapezeka ali ndi zaka pafupifupi 42. Nazi mitundu yofala kwambiri ya khansa mwa anthu omwe ali ndi PJS ndi kuchuluka kwawo:

• Khansa ya m'matumbo: Mpaka 40%.
• Khansa ya m'mawere: 30% mpaka 50%.
• Khansa ya Pancreatic (`(khansa ya Pancreatic)`): 11% mpaka 36%.
• Khansa ya m'mimba: Mpaka 30%.
• Khansa ya m'chiberekero (`(khansa ya m'chiberekero)`): 20%.
• Khansa ya m'mapapo (`(Khansa ya m'mapapo)`): 15%.
• Khansa ya m'matumbo ang'onoang'ono (`(Khansa ya m'matumbo ang'onoang'ono)`): Kufikira 13%.
• Khansa ya pachibelekero (`(Khansa ya pachibelekero)`): 10%.
• Khansa ya m'chiberekero: Osakwana 10%.
• Khansa ya m'matumbo: Yochepera 10%.
• Khansa ya m'mero: 2%.

Musachite mantha mukaona kuchuluka kwa chiopsezo kumeneku. Chofunika kwambiri ndikupita kukayezetsa pa nthawi yake. Kenako, ngati pali chilichonse, chingadziwike ndikuchiritsidwa mwachangu.

Kodi mungazindikire bwanji matenda a PJS? (Kuzindikira)

Anthu ambiri omwe apezeka ndi matenda a PJS amakaonana ndi dokotala chifukwa ali ndi zizindikiro za kutsekeka kwa matumbo (kutsekeka kwa matumbo) kapena intussusception (intussusception ya m'matumbo). Avereji ya zaka zomwe PJS imapezeka ndi matenda ndi pafupifupi zaka 23. Madokotala amafufuza zotsatirazi kuti adziwe matenda a PJS:

• Mbiri ya ngati pali aliyense m'banjamo amene ali ndi matenda a PJS.
• Madontho amdima pa thupi.
• Ma polyps m'mimba.

Komanso, akuyang'ana ngati pali kusintha kwa majini a `(STK11)`.

Ndi mayeso otani omwe amachitidwa kuti adziwe vutoli?

Dokotala wanu angachite njira zosiyanasiyana zojambulira, makamaka mayeso omwe amagwiritsa ntchito chubu chokhala ndi kamera (scope) kuti aone zotupa mkati mwa mmero mwanu. Mayesowa angaphatikizepo:

• Colonoscopy : Iyi imafufuza matumbo anu akuluakulu.
• Endoscopy yapamwamba : Iyi imafufuza mmero, m'mimba, ndi mbali ya pamwamba ya matumbo ang'onoang'ono.
• `(Capsule endoscopy)` : Mu izi, mumameza kapisozi yokhala ndi kamera kakang'ono. Imajambula zithunzi pamene ikudutsa m'mimba mwanu.

Mungathenso kutenga magazi kuti muwone ngati muli ndi vuto la kuchepa kwa magazi chifukwa cha kusowa kwa ayoni. Mukhozanso kuchita mayeso a majini m'magazi anu kuti mudziwe ngati muli ndi kusintha kwa majini a STK11.

Kodi Peutz-Jeghers Syndrome (PJS) imachiritsidwa bwanji?

Madokotala anu makamaka adzayang'anira ziwalo zanu, zomwe zikutanthauza kuti adzayang'ana khansa kapena mavuto ena omwe amabwera chifukwa cha zotupa.

Colonoscopy imatha kuchotsa zotupa m'matumbo akulu. Ngati pakufunika, zotupa m'mimba ndi kumtunda kwa matumbo ang'onoang'ono (duodenum) zimathanso kufufuzidwa ndikuchotsedwa. Nthawi zina, mayeso otchedwa balloon-assisted enteroscopy angagwiritsidwe ntchito kuwona ndikuchotsa zotupa mkati mwa matumbo ang'onoang'ono.

Nthawi zina opaleshoni ingafunike kuti achotse zotupazo. Madokotala nthawi zambiri amatha kuchotsa zotupazo chimodzi ndi chimodzi, popanda kuchotsa mbali zina za m'matumbo.

Kodi ndi mayeso otani omwe ndiyenera kuchitidwa?

Ichi ndi gawo lofunika kwambiri. Ngati muli ndi matenda a PJS, muyenera kuyesedwa nthawi zonse. Ngakhale kuti izi zingawoneke ngati zokhumudwitsa pang'ono, ndikofunikira kuteteza thanzi lanu.

Ndondomeko yonse ya mayeso ndi iyi:

• `(CT/MRI enterography)` kapena `(video capsule endoscopy)` :
• Iyenera kuyamba ali ndi zaka 8-10. Ngati pali zotupa, bwerezani zaka ziwiri kapena zitatu zilizonse.
• Ngati palibe zotupa, dikirani mpaka mutakwanitsa zaka 18 ndipo yambaninso kuyezetsa, kenako chitani izi zaka ziwiri kapena zitatu zilizonse.
• Ngati mwachedwa, muyenera kuyamba muli ndi zaka 12. Ngati muli ndi zipatso, chitani chaka chilichonse, kapena zaka 2-3 zilizonse.
• `(Endoscopy yapamwamba)` :
• Uyenera kuyamba uli ndi zaka 12. Ngati uli ndi mtedza, chitani chaka chilichonse, kapena zaka ziwiri kapena zitatu zilizonse.
• `(Magnetic resonance cholangiopancreatography (MRCP))` kapena `(endoscopic ultrasound)` :
• Kuyambira ndili ndi zaka 25-30, ziyenera kuchitika chaka chilichonse 1-2.

Mayeso enieni kwa akazi:

• Kuyambira ali ndi zaka 25, dokotala ayenera kuwunika mabere kawiri pachaka.
• Kuyambira ndili ndi zaka 25, chaka chilichonse muyenera kuchita mammogram ndi MRI ya m'mawere.
• Kuyambira zaka 18 mpaka 20, chaka chilichonse muyenera kuchita mayeso a m'chiuno ndi kuyesedwa magazi.
• Kuyambira ali ndi zaka 18 mpaka 20, chaka chilichonse ``transvaginal ultrasound`` (izi sizofunikira, malinga ndi upangiri wa dokotala).

Mayeso enieni kwa amuna:

• Kuyambira ndili ndi zaka 10, muyenera kuyesedwa ma testicular chaka chilichonse. Muyeneranso kudziwa kusintha kulikonse komwe kungakhudze akazi, monga kukula kwa bere.

Kodi Peutz-Jeghers Syndrome (PJS) ingapewedwe?

Popeza PJS nthawi zambiri imakhala yobadwa nayo, palibe chomwe mungachite kuti isakule.

Koma pali zinthu zomwe mungachite. Ngati muli ndi PJS, dziwitsani achibale anu za izi ndipo muwalimbikitse kuti akalandire upangiri wa majini. Kuwunikaku kudzayang'ana kusintha kwa majini a PJS. Ngati nawonso ali ndi kusintha kwa majini a STK11, adzalandira malangizo othandiza kupewa khansa ndikukhala ndi thanzi labwino.

Ngati muli ndi PJS, pali mwayi wa 50% kuti mwana wanu adzakhalenso ndi kusintha kwa majini. Koma pali njira zina zochepetsera chiopsezo chimenecho.

Mwachitsanzo, ngati mukugwiritsa ntchito feteleza ya in vitro (IVF) kuti mukhale ndi mwana, mungafune kuyesa njira yotchedwa preimplantation genetic diagnosis (PGD) musanayike. PGD imaphatikizapo kuyesa mazira omwe ali ndi feteleza kuti awone ngati ali ndi majini.

Komabe, PGD ndi njira yovuta komanso yokwera mtengo, choncho ndi bwino kukambirana izi ndi mlangizi wa majini musanapange chisankho chilichonse.

Kodi moyo uli bwanji ndi Peutz-Jeghers Syndrome? (Outlook)

Matenda a Peutz-Jeghers (PJS) sangachiritsidwe. Ndi matenda omwe amakhalapo kwa moyo wonse ndipo amatha kufalikira kwa ana anu. Ngati muli ndi matenda a PJS, muyenera kufufuzidwa nthawi zonse ngati muli ndi ma polyps, chifukwa amatha kukhala khansa kapena kuyambitsa kutsekeka kwa matumbo komwe kumafunika opaleshoni.

Kodi ndifunse dokotala wanga chiyani?

Ngati muli ndi matenda a PJS, musaiwale kufunsa dokotala wanu mafunso awa:

• Kodi ndiyenera kuchita mayeso a mtundu wanji? Kangati?
• Ndi zizindikiro ziti zomwe ndiyenera kukulankhulani nthawi yomweyo ngati zitachitika?
• Kodi ndi chithandizo chamtundu wanji chomwe ndikufunika?
• Ndi akatswiri amtundu wanji omwe ndidzayenera kugwira nawo ntchito?
• Kodi kukhala ndi PJS kungakhudze bwanji mapulani anga obereka?

Ndikofunikira kwambiri kuti munthu amene ali ndi Peutz-Jeghers Syndrome (PJS) agwire ntchito limodzi ndi dokotala wake kuti ayang'anire matenda ake.Kupita kukaonana ndi dokotala nthawi zonse kungakhale kotopetsa komanso kotopetsa nthawi zina. Koma ndikofunikira kuti musamale kwambiri za thanzi lanu. Kuzindikira msanga vuto monga khansa kungakuthandizeni kwambiri kukhala ndi moyo wathanzi komanso wautali. Lankhulani ndi dokotala wanu za momwe matenda anu angakhudzire moyo wanu komanso thanzi lanu la nthawi yayitali.

Zinthu zomwe tiyenera kukumbukira kuchokera munkhaniyi (Uthenga Wopita Nawo Kunyumba)

Chabwino, tiyeni tifotokoze mwachidule zina mwa zinthu zofunika kwambiri zokumbukira zokhudza Peutz-Jeghers Syndrome (PJS) zomwe takambirana:

• PJS ndi matenda a majini omwe amachititsa kuti zotupa zipangike m'thupi, mawanga pakhungu, komanso chiopsezo chowonjezeka cha khansa .
• Ndikofunikira kufunafuna upangiri wa dokotala ngati muli ndi zizindikiro monga mawanga akuda ozungulira pakamwa ndi miyendo (makamaka mudakali ana), kupweteka m'mimba, ndi magazi m'chimbudzi.
• Popeza izi zitha kukhala zobadwa nazo, ngati wina m'banjamo ali nazo, ndi bwino kuti enanso akapimidwe majini ndi upangiri .
• Ngati muli ndi matenda a PJS, ndikofunikira kuti muyezedwe nthawi zonse . Izi zingathandize kuzindikira khansa ndi mavuto ena msanga.
• Ngakhale kuti vutoli ndi la moyo wonse, ndi kuyang'aniridwa bwino ndi dokotala komanso kulandira chithandizo, mutha kukhala moyo wabwinobwino . Musachite mantha, koma khalani maso.

Ngati muli ndi mafunso ena okhudza izi, lankhulani ndi dokotala wanu. Angakupatseni malangizo oyenera.

Matenda a Peutz -Jeghers, PJS, matenda a majini, zotupa za m'mimba, mawanga pakhungu, chiopsezo cha khansa, jini la STK11, colonoscopy, endoscopy