Ese urimo kugira utudomo duto ku mubiri wawe n'ibibyimba mu nda yawe? Reka twige kuri Peutz-Jeghers Syndrome (PJS)!

Hari igihe ibintu bishobora kubaho ku mibiri yacu tutiteze, sibyo? Tekereza ko wowe cyangwa umwana wawe mufite utudomo duto twijimye ku ruhu rwanyu, cyane cyane hafi y'umunwa, kandi mukagira n'ibibazo byo mu nda. Ibi bintu bishobora kuba bitari byoroshye nkuko mubitekereza. Uyu munsi tugiye kuvuga ku ndwara igaragaza ibimenyetso bisa, ikunze kugaragara gake, ariko ni ingenzi cyane kubimenya. Iyo ni Peutz-Jeghers Syndrome (PJS).

Peutz-Jeghers Syndrome (PJS) ni iki? Reka tubisobanukirwe mu buryo bworoshye!

Muri make, Peutz-Jeghers Syndrome (PJS) ni indwara ituma habaho utunyangingo duto (polyps) mu mubiri wawe, ndetse n'utudomo twijimye mu maso, mu biganza no mu birenge byawe. Utu duto twombi ntabwo ari kanseri mu by'ukuri, bivuze ko ari nta kibazo . Ariko, kugira PJS byongera cyane ibyago byo kurwara kanseri.

Utu duce twijimye (tuzwi nka "mucocutaneous hyperpigmentation") tugaragara mu bana bato bafite PJS, ariko buhoro buhoro tugenda dushira uko igihe kigenda gihita. Ubwoko bw'uturemangingo navuze (bwitwa "hamartomatous polyps") bukunze kugaragara mu nzira y'igogora (``(inzira ya GI)''). Dukunze kugaragara mu mara mato, mu gifu, no mu mara manini (``(inda nini)''). Ariko, dushobora no gukura hanze y'inzira y'igogora, nko mu mpyiko, mu ruhago, mu bihaha no mu mazuru. Utu duce dushobora kuba kanseri kandi tugatera ingorane zitandukanye zisaba kuvurwa.

Niba ufite PJS, muganga wawe azajya asuzuma kanseri n'ibibyimba bishobora gutera ibyago byinshi.

Iyi ndwara ya PJS ikunze kugaragara gute?

Biragoye kuvuga neza uburyo indwara ya Peutz-Jeghers Syndrome (PJS) ikunze kugaragara, kuko abashakashatsi bataramenya imibare nyayo kugeza ubu. Ariko batekereza ko ishobora kugira ingaruka hagati ya 1 kuri 300.000 na 1 kuri 25.000. Rero, yego, ni indwara idasanzwe cyane .

Ni ibihe bimenyetso bya PJS? Ubimenya ute?

PJS itera ahanini utudomo twijimye (tuboneka mu bana bato) n'ibyo bita "hamartomatous polyps" (tuboneka mu bana bato no mu bakuru).

Uduce twijimye:

Abana bato barwaye indwara ya Peutz-Jeghers Syndrome bakuramo utudomo tw'ubururu-imvi cyangwa umukara. Hari igihe bitiranywa n'uduheri. Utu duheri akenshi dutangira kugaragara iyo umwana afite imyaka 1-2, hanyuma tukagenda dushira buhoro buhoro ageze mu myaka y'ubugimbi. Utu duheri dushobora kuba dufite ingano kuva kuri mm 1 (ingana n'agasongero k'ikaramu) kugeza kuri mm 5 (ingana n'agasabune k'ikaramu). Bishobora kugaragara ku bice bitandukanye by'umubiri:

• Ku munwa cyangwa hafi yawo (iki nicyo gikunze kugaragara cyane)
• Imbere mu kanwa
• Izuru
• Hafi y'amaso
• Intoki
• Gufata
• Amabati
• Hafi y'ikibuno

Ibimenyetso biterwa n'ibibyimba mu nzira y'igogora:

Ibindi bimenyetso bifitanye isano n'ibyimbirwa (polyps) mu buryo bw'igogora (cyane cyane mu mara cyangwa mu gifu), cyangwa ingorane ziterwa n'ibyo bimbirwa. Ibi bimenyetso bikunze kugaragara iyo uri hagati y'imyaka 10 na 30. Ibimenyetso bishobora guterwa n'ibi bimbirwa birimo:

• Ububabare bwo mu gifu (`(Ububabare bwo mu gifu)`)
• Isesemi no kuruka (`(Isesemi no kuruka)`)
• Kuva amaraso mu gifu (`(Kuva amaraso mu gifu)`)
• Amaraso mu muyoboro wawe (`(Amaraso mu muyoboro wawe)`)
• Anemia (urugero rw'icyuma mu mubiri rushobora kugabanuka bitewe no kuva amaraso kenshi)

Ni iki gitera PJS?

Abantu benshi barwaye Peutz-Jeghers Syndrome bagira impinduka (cyangwa impinduka) muri kopi imwe ya gene yitwa ``STK11''. Iyi ``STK11'' ni gene igabanya kanseri. Mu yandi magambo, iyi gene ni nk'imashini igenzura imikurire y'uturemangingo. Iyo iyi gene idakora neza, iba nk'itara rihora ricanye kandi ridafite umuntu wo kurizimya. Uturemangingo dukomeza kwigabanyamo ibice no gukura, duhurira hamwe kugira ngo tugire ibibyimba.

Abantu bagera kuri 80% bafite PJS barazwe iyi gene mutation ku babyeyi babo, bivuze ko bayikomora kuri nyina cyangwa se. Abandi 20% bafite iyi gene mutation, ariko nta muntu n'umwe mu muryango wabo wigeze agira iyi ndwara mbere, cyangwa hari abantu badafite iyi gene na gato. Abantu bafite `(STK11)` mutation badafite amateka y'umuryango bashobora kuba barahuye n'iyi gene mu gihe runaka mu buzima bwabo. Nyamara, abahanga mu bya siyansi ntibarasobanukirwa neza uburyo PJS ikura nta gene mutation ya `(STK11)`.

Ni gute PJS ikomoka mu muryango?

Ubusanzwe, umwana akura gene ya PJS ku mubyeyi ufite gene mutation. Ihinduka ritera PJS rikuragwa mu buryo busanzwe.

Biba gutya: Ababyeyi bombi baha umwana wabo kopi imwe ya gene `(STK11). Niba ufite ibyago byinshi byo kugira ibimenyetso bya PJS n'ingorane, ugomba kuba warazwe iyi gene yahindutse iturutse ku mubyeyi umwe gusa.

Niba ufite iyi gene mutation, hari amahirwe angana na 50% ko n'umwana wawe azayigira.

Ni izihe ngorane zishobora guterwa na PJS?

Ingorane ikomeye cyane y’ibi ni kanseri . Abashakashatsi bavuga ko niba ufite PJS, ibyago byo kurwara kanseri mu buzima bwawe bwose bishobora kugera kuri 93%. Niyo mpamvu muganga wawe azagusuzuma buri gihe. Muri ubwo buryo, ishobora kumenyekana hakiri kare ikavurwa.

Izindi ngorane ni izi:

• Uburyo amara mato atera imbere : Ibi bibaho iyo igice cy'amara mato kigenda kinjira imbere, nk'uko isogisi rigenda rizunguruka imbere. Ibi bibaho iyo igihingwa kinini (polyp) kigerageza kwinjira mu mara. Iyi ndwara ishobora gufata abantu bagera kuri 69% barwaye PJS.
• Kuziba amara mato (`(Kuziba amara mato)`): Iyo kanseri ishobora kuziba amara yawe mato. Abantu bagera kuri 50% barwaye PJS bazahura n'ibibazo byo kuziba amara bizasaba kubagwa mbere y'imyaka 20.
• Kuva amaraso mu gifu : Ibibyimba bishobora gushyira igitutu ku ngingo z'inzira y'igogora, bigatera kuva amaraso.
• Kubura icyuma: Kuva amaraso kenshi bishobora gutuma urugero rw'icyuma mu mubiri rugabanuka, bigatera kubura amaraso.

Ku bagore, ubwoko bwa kanseri y'intanga yitwa "sex-cord tumors" hamwe n'ubwoko budasanzwe kandi bukomeye bwa kanseri y'inkondo y'umura yitwa "adenoma malignanum". Ibi bibyimba bishobora gutera imihango idahwitse no kuba umwangavu mu ntangiriro.

Abagabo bashobora kurwara ibibyimba byo mu bwoko bwa sex-cord na Sertoli-cell mu mabya yabo. Ibi bishobora gutuma bakura amabere (gynecomastia), bakagera mu gihe cy'ubugimbi hakiri kare, kandi amagufwa yabo ashobora gukura vuba kurusha uko bisanzwe (imyaka y'amagufwa igeze mu zabukuru), kandi bashobora kuba bagufi kuruta uko bisanzwe.

Ni izihe ngaruka zo kurwara kanseri zijyanye na PJS?

Indwara ya Peutz-Jeghers Syndrome (PJS) yongera ibyago byo kurwara kanseri y'igogora n'izindi ngingo. Iyo umuntu urwaye PJS arwaye kanseri, akenshi ayisanga afite imyaka 42. Dore ubwoko bwa kanseri bukunze kugaragara ku bantu barwaye PJS n'umubare wabo:

• Kanseri y'inkondo y'umura: Kugeza kuri 40%.
• Kanseri y'ibere: 30% kugeza 50%.
• Kanseri y'igikanka (`(Kanseri y'igikanka)`): 11% kugeza kuri 36%.
• Kanseri yo mu gifu: Kugeza kuri 30%.
• Kanseri y'intanga ngore (`(Kanseri y'intanga ngore)`): 20%.
• Kanseri y'ibihaha (`(Kanseri y'ibihaha)`): 15%.
• Kanseri y'amara mato (`(Kanseri y'amara mato)`): Kugeza kuri 13%.
• Kanseri y'inkondo y'umura (`(Kanseri y'inkondo y'umura)`): 10%.
• Kanseri yo mu mura: Munsi ya 10%.
• Kanseri y'inkari: Munsi ya 10%.
• Kanseri yo mu nda: 2%.

Ntugatinye iyo ubonye ibi bipimo by'ibyago. Ikintu cy'ingenzi ni ukwipimisha ku gihe. Hanyuma, niba hari ikintu, gishobora kumenyekana no kuvurwa vuba.

Ni gute wasuzuma indwara ya PJS? (Isuzuma)

Abantu benshi basanzwe barwaye PJS bajya kwa muganga kuko bafite ibimenyetso byo kuziba amara (amara afunganye) cyangwa intussusception (amara afunganye). Impuzandengo y'imyaka PJS ipimwa ni hafi imyaka 23. Abaganga bashakisha ibi bikurikira kugira ngo bamenye PJS:

• Amateka y'uko hari umuntu mu muryango ufite PJS.
• Uduce twijimye ku mubiri.
• Polyps mu nzira y'igogora.

Nanone, barimo kugenzura niba hari impinduka mu ngirabuzimafatizo ya `(STK11)`.

Ni ibihe bipimo bikorwa kugira ngo hamenyekane iyi ndwara?

Muganga wawe ashobora gukora uburyo butandukanye bwo gufata amashusho, cyane cyane ibizamini bikoresha umuyoboro ufite kamera (scope) kugira ngo arebe ibibyimba biri mu muhogo wawe. Ibi bizamini bishobora kuba birimo:

• Colonoscopy : Iyi isuzuma amara manini.
• Endoskopi yo hejuru : Iyi isuzuma umwobo wawe, igifu, n'igice cyo hejuru cy'amara mato.
• `(Capsule endoscopy)` : Muri ibi, umira kapsule ifite kamera nto. Ifata amafoto uko inyura mu buryo bw'igogora ryawe.

Ushobora kandi gufata ikizamini cy'amaraso kugira ngo urebe niba ufite ikibazo cyo kubura icyuma. Ushobora kandi gukora ibizamini bya genetiki ku maraso yawe kugira ngo umenye niba ufite gene ya STK11.

Indwara ya Peutz-Jeghers Syndrome (PJS) ivurwa ite?

Abaganga bawe bazakurikirana cyane cyane ingingo zawe, bivuze ko basuzuma kanseri cyangwa izindi ngorane ziterwa n'ibibyimba.

Colonoscopy ishobora gukuraho ibibyimba mu mara manini. Iyo bibaye ngombwa, ibibyimba byo mu gifu no mu gice cyo hejuru cy'amara mato (duodenum) nabyo bishobora gupimwa no gukurwaho. Hari igihe, ikizamini cyitwa balloon-assisted enteroscopy gishobora gukoreshwa mu kureba no gukuraho ibibyimba byimbitse mu mara mato.

Mu bihe bimwe na bimwe, kubagwa bishobora kuba ngombwa kugira ngo ibibyimba bikureho. Abaganga bashobora gukuraho ibibyimba umwe umwe, badakuyeho ibice by'amara.

Ni ubuhe bwoko bw'isuzuma nzagomba gukorerwa?

Iki ni cyo gice cy'ingenzi cyane. Niba ufite PJS, ugomba gukorerwa ibizamini bitandukanye buri gihe. Nubwo ibi bishobora gusa nkaho bikubangamiye, ni ngombwa kurinda ubuzima bwawe.

Gahunda rusange y'ibizamini ni iyi ikurikira:

• `(CT/MRI enterography)` cyangwa `(video capsule endoscopy)` :
• Bigomba gutangirira ku myaka 8-10. Niba hari ibibyimba, subiramo buri myaka 2-3.
• Niba nta bibyimba bihari, tegereza kugeza wujuje imyaka 18 hanyuma utangire kongera gupima, hanyuma ubikore buri myaka 2-3.
• Iyo bitinze, ugomba gutangira ufite imyaka 12. Niba ufite imbuto, zikore buri mwaka, cyangwa buri myaka 2-3.
• `(Isuzuma ryo hejuru rya endoskopiya)` :
• Ugomba gutangirira ku myaka 12. Niba ufite imbuto, zikore buri mwaka, cyangwa buri myaka 2-3.
• `(Magnetic resonance cholangiopancreatography (MRCP))` cyangwa `(endoscopic ultrasound)` :
• Guhera ku myaka 25-30, bigomba gukorwa buri mwaka 1-2.

Ibizamini byihariye ku bagore:

• Kuva ku myaka 25, banza upime amabere kwa muganga kabiri mu mwaka.
• Uhereye ku myaka 25, jya kwipimisha mammogram na MRI y'ibere buri mwaka.
• Kuva ku myaka 18 kugeza kuri 20, jya usuzuma ikibuno no gupimwa Pap smears buri mwaka.
• Kuva ku myaka 18 kugeza kuri 20, buri mwaka `(ultrasound transvaginal)` (ibi si ngombwa, ku nama za muganga).

Ibizamini byihariye ku bagabo:

• Guhera ku myaka 10, ugomba kwisuzumisha intanga buri mwaka. Ugomba kandi kumenya impinduka zose zibangamira abagore, nko gukura kw'amabere.

Ese indwara ya Peutz-Jeghers Syndrome (PJS) ishobora kwirindwa?

Kubera ko PJS ikunze kuba iy'uruhererekane rw'indwara, nta kintu na kimwe wakora kugira ngo uyibuze gukura.

Ariko hari ibintu ushobora gukora. Niba ufite PJS, menyesha abandi bagize umuryango wawe ibyayo kandi ubashishikarize kubona inama ku bijyanye n'imiterere y'uturemangingo. Iri suzuma rizasuzuma niba hari impinduka mu turemangingo twa PJS. Niba nabo bafite impinduka mu turemangingo twa STK11, bazahabwa inama zo kubafasha kwirinda kanseri no gukomeza kugira ubuzima bwiza.

Niba ufite PJS, hari amahirwe angana na 50% ko umwana wawe na we azagira iyi gene mutation. Ariko hari uburyo bumwe na bumwe bwo kugabanya iyo ngaruka.

Urugero, niba ukoresha intanga ngore (IVF) kugira ngo ubyare umwana, ushobora kugerageza uburyo bwitwa preimplantation genetic diagnosis (PGD). PGD ikubiyemo gupima intanga ngore zivutse ku babyeyi kugira ngo barebe niba nta mpinduka zabayeho mu ngirabuzimafatizo.

Ariko, PGD ni inzira igoye kandi ihenze, bityo ni byiza kubiganiraho n'umujyanama mu by'imiterere y'umubiri mbere yo gufata icyemezo icyo ari cyo cyose.

Ubuzima bumeze bute kuri Peutz-Jeghers Syndrome? (Outlook)

Indwara ya Peutz-Jeghers (PJS) ntishobora gukira. Ni indwara y'ubuzima bwose kandi ishobora kwanduzwa abana bawe. Niba ufite PJS, ugomba kujya usuzuma buri gihe niba nta ndwara ifite, kuko ishobora gutera kanseri cyangwa igatera kuziba amara bigasaba kubagwa.

Ni iki ngomba kubaza muganga wanjye?

Niba ufite PJS, ntukibagirwe kubaza muganga wawe ibi bibazo:

• Ni ubuhe bwoko bw'isuzuma nzakenera gukora? Kangahe?
• Ni ibihe bimenyetso ngomba kuguhamagara vuba bibaye?
• Ni ubuhe bwoko bw'ubuvuzi nkeneye?
• Ni ubwoko ki bw'inzobere nzakorana na bo?
• Ni gute kugira PJS bizagira ingaruka ku gahunda zanjye zo kubyara?

Ni ingenzi cyane ko umuntu urwaye Peutz-Jeghers Syndrome (PJS) akorana bya hafi na muganga we kugira ngo akurikirane uko amerewe.Kujya kwa muganga buri gihe bishobora kugorana rimwe na rimwe. Ariko ni ngombwa gukomeza kwita ku buzima bwawe. Gutahura hakiri kare ikibazo nk'icya kanseri bishobora kugufasha cyane kubaho ubuzima bwiza kandi burambye. Vugana na muganga wawe uburyo indwara uzahura na yo izakugiraho ingaruka ku buzima bwawe n'ubuzima bwawe bw'igihe kirekire.

Ibintu dukwiye kwibuka muri iyi nkuru (Ubutumwa bwo kujyana mu rugo)

Noneho reka tuvuge muri make bimwe mu bintu by'ingenzi tugomba kwibuka kuri Peutz-Jeghers Syndrome (PJS) twavuzeho:

• PJS ni indwara iterwa n’uturemangingo ituma ibibyimba biba mu mubiri, hakavuka uduheri ku ruhu, ndetse bikazana ibyago byinshi byo kurwara kanseri .
• Ni ngombwa gushaka inama kwa muganga niba ufite ibimenyetso nk'ibizinga byijimye bikikije umunwa no ku maguru (cyane cyane mu bwana), ububabare bwo mu nda, n'amaraso mu mwanda.
• Kubera ko ibi bishobora kuba umurage, niba hari umuntu wo mu muryango ubifite, ni byiza ko n'abandi bapimwa kandi bagahabwa inama ku bijyanye n'uturemangingo .
• Niba ufite PJS, ni ngombwa ko ukorerwa isuzuma buri gihe . Ibi bishobora gufasha kumenya kanseri n'izindi ngorane hakiri kare.
• Nubwo iyi ari indwara y'ubuzima bwose, iyo ukurikiranwe neza n'abaganga kandi ukavurwa, ushobora kubaho ubuzima busanzwe . Ntugatinye, ahubwo komeza ube maso.

Niba ufite ikindi kibazo kuri ibi, vugana na muganga wawe. Bashobora kuguha inama ikubereye.

Indwara ya Peutz -Jeghers, PJS, indwara z'uturemangingo, ibibyimba byo mu gifu, uduheri tw'uruhu, ibyago byo kurwara kanseri, gene ya STK11, colonoscopy, endoscopi