Ofuna obutundutundu obutonotono ku mubiri n’ebizimba mu lubuto? Ka tuyige ku bulwadde bwa Peutz-Jeghers Syndrome (PJS)!

Oluusi ebintu bisobola okutuuka ku mibiri gyaffe bye tutasuubira, nedda? Kuba akafaananyi nga ggwe oba omwana wo olina obutundutundu obutono obuddugavu ku lususu lwo naddala okwetooloola akamwa, era naawe olina obuzibu mu lubuto. Ebintu bino biyinza obutaba byangu nga bw’olowooza. Leero tugenda kwogera ku mbeera eraga obubonero obufaanagana, nga butono katono, naye nga kikulu nnyo okumanya. Oyo ye bulwadde bwa Peutz-Jeghers Syndrome (PJS).

Obulwadde bwa Peutz-Jeghers Syndrome (PJS) kye ki? Ka tukitegeere mu ngeri ennyangu!

Mu ngeri ennyangu, obulwadde bwa Peutz-Jeghers Syndrome (PJS) mbeera ereetera obuwuka obutonotono (polyps) okutondebwa munda mu mubiri gwo, wamu n’amabala aga langi enzirugavu mu maaso go, mu ngalo n’ebigere byo. Ebikula bino byombi n’amabala mu butuufu si kookolo, ekitegeeza nti tebirina bulabe . Wabula okubeera ne PJS kyongera nnyo ku bulabe bw’okufuna kookolo.

Ebitundu bino ebiddugavu (mu by’obujjanjabi ebiyitibwa ``mucocutaneous hyperpigmentation'') birabibwa mu baana abato abalina PJS, naye bigenda biggwaawo mpolampola okumala ekiseera. Ekika ky'okukula kye njogeddeko (ekiyitibwa ``hamartomatous polyps'') kitera okukula mu nkola yo ey'okugaaya emmere (``(GI tract)''). Zisinga kulabibwa mu kyenda kyo ekitono, olubuto, n'ekyenda ekinene (``(colon)''). Kyokka era zisobola okukula ebweru w’enkola y’okugaaya emmere, gamba ng’ensigo, ekibumba, amawuggwe ne mu nnyindo. Enkula zino ziyinza okufuuka kookolo ne zireeta ebizibu eby’enjawulo ebyetaagisa okujjanjabibwa.

Bw’oba ​​olina PJS, omusawo wo ajja kukebera buli kiseera kookolo n’ebizimba eby’akabi ennyo.

Embeera eno eya PJS etera etya?

Kizibu okwogera ddala engeri obulwadde bwa Peutz-Jeghers Syndrome (PJS) gye butera okubaawo, kubanga abanoonyereza tebannaba kufuna nnamba ntuufu. Naye balowooza nti kiyinza okukosa wonna okuva ku muntu omu ku buli 300,000 okutuuka ku muntu omu ku buli 25,000. Kale, yee, mbeera etali ya bulijjo nnyo .

Bubonero ki obwa PJS? Okitegeera otya?

PJS okusinga ereeta ebitundu ebiddugavu (bino birabibwa mu baana abato) n'ebiyitibwa ``hamartomatous polyps'' (bino bisobola okulabibwa mu baana abato n'abantu abakulu).

Ebifo ebiddugavu:

Abaana abato abalina obulwadde bwa Peutz-Jeghers Syndrome bafuna amabala aga bbululu-enzirugavu oba kitaka. Zino oluusi zikyamulwa nti ziyitibwa freckles. Ebitundu bino bitera okutandika okulabika ng’omwana awezezza emyaka 1-2 era nga bigenda biggwaawo mpolampola we bituukira mu myaka gye egy’obutiini. Ebitundu bino bisobola okuva ku mm 1 (nga sayizi y’ensonga y’ekkalaamu esonze) okutuuka ku mm 5 (nga sayizi y’ekisangula ekkalaamu). Ziyinza okulabika ku bitundu by’omubiri eby’enjawulo:

• Ku mimwa oba okwetoloola emimwa (kino kye kisinga okubeera) .
• Munda mu kamwa
• Ennyindo
• Okwetoloola amaaso
• Engalo
• Kwaata
• Wansi
• Okwetoloola enseke

Obubonero obuva ku bizimba mu nkola y’okugaaya emmere:

Obubonero obulala bwekuusa ku kukula (polyps) mu nkola y’okugaaya emmere (naddala mu byenda oba mu lubuto), oba ebizibu ebiva ku kukula okwo. Obubonero buno butera okulabika ng’oli wakati w’emyaka 10 ne 30. Obubonero obuyinza okuva ku kukula kuno mulimu:

• Obulumi mu lubuto (`(Obulumi mu lubuto)`)
• Okuziyira n'okusiiyibwa (`(Okuziyira n'okusesema)`)
• Okuvaamu omusaayi mu lubuto (`(Okuvaamu omusaayi mu lubuto)`)
• Omusaayi mu musulo gwo (`(Omusaayi mu musulo gwo)`)
• Okukendeera kw’omusaayi (omuwendo gw’ekyuma mu mubiri guyinza okukendeera olw’okuvaamu omusaayi ennyo) .

Kiki ekivaako PJS?

Abantu abasinga obungi abalina obulwadde bwa Peutz-Jeghers Syndrome balina enkyukakyuka (oba enkyukakyuka) mu kkopi emu ey'obuzaale obuyitibwa ``STK11''. Kino ``STK11'' ye ggiini eziyiza ebizimba. Mu ngeri endala, obuzaale buno bulinga switch efuga okukula kw’obutoffaali. Obuzaale buno bwe buba tebukola bulungi, buba ng’ettaala eyaka buli kiseera nga terina muntu yenna agizikiza. Obutoffaali bweyongera okwawukana ne bukula, ne bwegatta ne bukola ebizimba.

Abantu nga 80% abalina PJS basikira enkyukakyuka y’obuzaale okuva mu bazadde baabwe, ekitegeeza nti bagisikira okuva ku maama oba kitaabwe. Ebitundu ebirala 20% balina enkyukakyuka eno, naye tewali muntu yenna mu maka gaabwe abadde na mbeera eno emabegako, oba abantu abamu tebalina nkyukakyuka eno n’akatono. Abantu abalina enkyukakyuka y’obuzaale eya `(STK11)` nga tebalina byafaayo bya maka boolekedde okuba nga baalina enkyukakyuka eno mu kiseera ekimu mu bulamu bwabwe. Wabula bannassaayansi n’okutuusa kati tebalina kirowoozo kitegeerekeka ku ngeri PJS gy’ekulaakulana awatali nkyukakyuka ya `(STK11)` gene.

PJS eva etya mu lunyiriri?

Ebiseera ebisinga, omwana asikira obuzaale bwa PJS okuva ku muzadde alina enkyukakyuka mu buzaale. Enkyukakyuka ereeta PJS esikira mu nkola ya autosomal dominant.

Kibaawo bwe kiti: Abazadde bombi bayisa kkopi emu ey’obuzaale `(STK11)` eri omwana waabwe. Bw’oba ​​oli mu bulabe obw’amaanyi obw’okufuna obubonero n’ebizibu bya PJS, olina okuba nga wasikira obuzaale buno obukyusiddwa okuva ku muzadde omu yekka.

Bw’oba ​​olina enkyukakyuka eno ey’obuzaale, emikisa 50% nti omwana wo naye ajja kugifuna.

Bizibu ki ebiyinza okuva mu PJS?

Ekizibu ekisinga okuva mu kino ye kookolo . Abanoonyereza bagamba nti bw’oba ​​olina PJS, obulabe bwo obw’okufuna kookolo mu bulamu bwo buyinza okuba waggulu nga 93%. Eno y’ensonga lwaki omusawo wo ajja kukukebera kookolo buli kiseera. Mu ngeri eyo, kisobola okuzuulibwa nga bukyali ne kijjanjabwa.

Ebizibu ebirala ebiyinza okuvaamu bye bino:

• Intussusception of the small bowel : Kino kiba kitundu ky’ekyenda kyo ekitono bwe kizinga munda, ng’akagatto akayiringisibwa munda. Kino kibaawo ng’ekikula ekinene (polyp) kigezaako okutambula mu kyenda. Embeera eno esobola okukosa abantu abawera 69% abalina PJS.
• Okuzibikira ekyenda ekitono (`(Okuzibikira ekyenda ekitono)`): Ekizimba ekyo kisobola okuzibikira ekyenda kyo ekitono. Abantu nga 50% abalina PJS bajja kufuna okuzibikira kw’ekyenda nga kyetaagisa okulongoosebwa nga tebannaweza myaka 20.
• Okuvaamu omusaayi mu lubuto : Ebizimba bisobola okussa puleesa ku bitundu by’omubiri ebigaaya emmere, ne bivaamu omusaayi.
• Okukendeera kw’omusaayi mu mubiri olw’obutaba na kyuma: Okuvaamu omusaayi buli kiseera kiyinza okuvaako okukendeeza ku kyuma mu mubiri ekivaako okukendeeza ku musaayi.

Mu bakyala, ekika ky'ekizimba ky'enkwaso ekiyitibwa ``sex-cord tumors'' n'ekika kya kookolo w'omumwa gwa nnabaana ekitali kya bulijjo, eky'amaanyi ayitibwa ``adenoma malignum'' bisobola okukula. Ebizimba bino bisobola okuvaako okugenda mu nsonga ezitali za bulijjo n’okutuuka mu myaka gy’obuvubuka nga bukyali.

Abasajja basobola okufuna ebizimba eby’ekika kya sex-cord ne Sertoli-cell mu nsigo zaabwe. Kino kiyinza okubaleetera okukula amabeere (gynecomastia), okuyita mu myaka gy’obuvubuka nga bukyali, n’amagumba gaabwe gayinza okukula amangu okusinga ku ga bulijjo (emyaka gy’amagumba egy’okukula), era gayinza okuba amampi okusinga aga bulijjo.

Obulabe ki obwa kookolo obukwatagana ne PJS?

Obulwadde bwa Peutz-Jeghers Syndrome (PJS) bwongera ku bulabe bw’okufuna kookolo w’enkola y’okugaaya emmere n’ebitundu ebirala. Singa omuntu alina PJS afuna kookolo, atera okuzuulibwa nga wa myaka 42. Bino bye bika bya kookolo ebisinga okubeera mu bantu abalina PJS n’emiwendo gye:

• Kookolo w’olubuto n’omumwa gwa nnabaana: Okutuuka ku bitundu 40%.
• Kookolo w’amabeere: Ebitundu 30% okutuuka ku 50%.
• Kookolo w’olubuto (`(Kkookolo w’olubuto)`): 11% okutuuka ku 36%.
• Kookolo w’olubuto: Okutuuka ku bitundu 30%.
• Kookolo w'enkwaso (`(Kkookolo w'enkwaso)`): 20%.
• Kookolo w'amawuggwe (`(Kkookolo w'amawuggwe)`): 15%.
• Kookolo w’ekyenda ekitono (`(Kkookolo w’ekyenda ekitono)`): Okutuuka ku bitundu 13%.
• Kookolo w'omumwa gwa nnabaana (`(Kkookolo w'omumwa gwa nnabaana)`): 10%.
• Kookolo wa nnabaana: Ebitundu ebitakka wansi wa 10%.
• Kookolo w’ensigo: Ebitundu ebitakka wansi wa 10%.
• Kookolo w’omumwa gwa nnabaana: 2%.

Totya ng’olaba ebitundu bino eby’akabi. Ekisinga obukulu kwe kwekebeza mu budde. Olwo, bwe wabaawo ekintu kyonna, kisobola okuzuulibwa n’okujjanjabibwa mu bwangu.

Ozuula otya obulwadde bwa PJS? (Okuzuula obulwadde)

Abantu abasinga obungi abazuuliddwa nga balina PJS balaba omusawo kubanga balina obubonero bw’okuzibikira ekyenda (okuzibikira ekyenda) oba okuzibikira ekyenda (okuzibikira ekyenda). Emyaka gya PJS gy’azuulibwa giri nga 23. Abasawo banoonya bino wammanga okuzuula PJS:

• Ebyafaayo oba waliwo omuntu yenna mu maka alina PJS.
• Ebitundu ebiddugavu ku mubiri.
• Polyps mu nkola y’okugaaya emmere.

Ate era, bakebera okulaba oba waliwo enkyukakyuka mu ggiini ya `(STK11)`.

Bikebere ki ebikolebwa okuzuula embeera eno?

Omusawo ayinza okukola emitendera egy’enjawulo egy’okukuba ebifaananyi naddala okukebera okukozesa ttanka eriko kkamera (sikopu) okunoonya ebizimba munda mu nnywanto yo. Ebigezo bino biyinza okuli:

• Colonoscopy : Kino kikebera ekyenda kyo ekinene.
• Upper endoscopy : Kino kikebera omusuwa gwo, olubuto, n’ekitundu eky’okungulu eky’ekyenda ekitono.
• `(Capsule endoscopy)` : Mu kino, omira kkapu nga kuliko kkamera entono. Kikuba ebifaananyi nga bwe kiyita mu nkola yo ey’okugaaya emmere.

Osobola n’okutwala omusaayi okukebera oba obulwadde bw’omusaayi olw’obutaba na kyuma. Osobola n’okukebera obuzaale ku musaayi gwo okuzuula oba olina enkyukakyuka y’obuzaale bwa STK11.

Obulwadde bwa Peutz-Jeghers Syndrome (PJS) bujjanjabwa butya?

Abasawo bo bajja kusinga kulondoola bitundu byo, ekitegeeza okukebera kookolo oba ebizibu ebirala ebiva ku bizimba.

Colonoscopy esobola okuggyawo ebizimba mu kyenda ekinene. Bwe kiba kyetaagisa, ebizimba mu lubuto n’ekitundu eky’okungulu eky’ekyenda ekitono (duodenum) nabyo bisobola okuggyibwamu ebitundu by’omubiri ne biggyibwamu. Oluusi, okukebera okuyitibwa balloon-assisted enteroscopy kuyinza okukozesebwa okulaba n’okuggyawo ebizimba mu buziba bw’ekyenda ekitono.

Mu mbeera ezimu, kiyinza okwetaagisa okulongoosebwa okuggyamu ebizimba. Abasawo abalongoosa ebiseera ebisinga basobola okuggyamu ebizimba kimu ku kimu, nga tebaggyamu bitundu bya kyenda.

Ngenda kuba nnina okukeberebwa mu ngeri ki?

Kino kye kitundu ekisinga obukulu. Bw’oba ​​olina PJS, ojja kuba olina okwekebeza eby’enjawulo buli kiseera. Wadde kino kiyinza okulabika ng’ekinyiiza katono, kyetaagisa okukuuma obulamu bwo.

Enteekateeka y’okukebera mu bulambalamba eri bweti:

• `(CT/MRI enterography)` oba `(okukebera endoscope mu vidiyo)` :
• Lirina okutandika ku myaka 8-10. Bwe wabaawo ebizimba, ddamu buli luvannyuma lwa myaka 2-3.
• Bwe waba tewali bizimba, linda okutuuka ku myaka 18 otandike okuddamu okukebera, olwo okole buli luvannyuma lwa myaka 2-3.
• Bwe kiba kikeeredde, olina okutandika ku myaka 12. Bw’oba ​​olina ebibala, bikole buli mwaka, oba buli luvannyuma lwa myaka 2-3.
• `(Endoscopy eya waggulu)` :
• Olina okutandika ku myaka 12. Bw’oba ​​olina entangawuuzi, kikole buli mwaka, oba buli luvannyuma lwa myaka 2-3.
• `(Magnetic resonance cholangiopancreatography (MRCP))` oba `(okukebera eddoboozi ery'omunda)` :
• Okutandika ku myaka 25-30, kisaana okukolebwa buli luvannyuma lwa myaka 1-2.

Ebigezo ebitongole eby’abakyala:

• Okuva ku myaka 25, omusawo akebere amabeere emirundi ebiri omwaka.
• Okutandika n’emyaka 25, buli mwaka funa ekigezo ky’amabeere n’okukeberebwa MRI y’amabeere.
• Okuva ku myaka 18 okutuuka ku 20, buli mwaka mukebere ekisambi n’okukeberebwa Pap smears.
• Okuva ku myaka 18 okutuuka ku 20, buli mwaka `(transvaginal ultrasound)` (kino si kyetaagisa, ku magezi g'abasawo).

Ebigezo ebitongole eby’abasajja:

• Okutandika ku myaka 10, buli mwaka olina okukeberebwa ensigo. Era olina okumanya enkyukakyuka yonna efuula omukazi, gamba ng’amabeere okukula.

Obulwadde bwa Peutz-Jeghers Syndrome (PJS) busobola okuziyizibwa?

Okuva PJS bw’etera okuba ey’ensikirano, mu butuufu tewali ky’oyinza kukola kugiziyiza kukula.

Naye waliwo ebintu by’osobola okukola. Bw’oba ​​olina PJS, tegeeza ab’omu maka abalala era obakubirize okufuna okubudaabudibwa ku buzaale. Okwekenenya kuno kujja kukebera enkyukakyuka mu ggiini ya PJS. Singa nabo balina enkyukakyuka y’obuzaale bwa STK11, bajja kufuna okuteesebwa okuyamba okuziyiza kookolo n’okusigala nga balamu bulungi.

Bw’oba ​​olina PJS, emikisa 50% nti omwana wo naye ajja kuba n’enkyukakyuka y’obuzaale. Naye waliwo engeri ezimu ez’okukendeeza ku bulabe obwo.

Okugeza bw’oba ​​okozesa enkola ya in vitro fertilization (IVF) okuzaala omwana, oyinza okwagala okugezaako enkola eyitibwa preimplantation genetic diagnosis (PGD). PGD ​​erimu okugezesa embuto ezizaala okulaba oba tezikyusiddwa mu buzaale.

Wabula PGD nkola nzibu era ya bbeeyi, kale kirungi kino okukiteesaako n’omubuulirizi w’obuzaale nga tonnaba kusalawo kwonna.

Obulamu buli butya n’obulwadde bwa Peutz-Jeghers Syndrome? (Endowooza)

Obulwadde bwa Peutz-Jeghers Syndrome (PJS) tebusobola kuwona. Embeera ebeerawo obulamu bwo bwonna era osobola okugiyisibwa mu baana bo. Bw’oba ​​olina PJS, olina okwekebejjebwa buli kiseera oba temuli biwuka ebiyitibwa polyps, kuba biyinza okufuuka kookolo oba okuleeta okuzibikira mu byenda nga kyetaagisa okulongoosebwa.

Kiki kye nsaana okubuuza omusawo wange?

Bw’oba ​​olina PJS, tewerabira okubuuza omusawo wo ebibuuzo bino:

• Kika ki eky’okusunsulamu kye nja okwetaaga okuba nakwo? Emirundi emeka?
• Bubonero ki bwe nsaanidde okukutuukirira amangu ddala singa bubaawo?
• Bujjanjabi bwa ngeri ki bwe nneetaaga?
• Bakugu ba ngeri ki be nja kuba nnina okukola nabo?
• Okubeera ne PJS kinaakwata kitya ku nteekateeka zange ez’okuzaala?

Kikulu nnyo omuntu alina obulwadde bwa Peutz-Jeghers Syndrome (PJS) okukolagana obulungi n’omusawo we okulondoola embeera ye.. Okugenda ew’omusawo bulijjo kiyinza okukukooya n’okukooya ebiseera ebimu. Naye kyetaagisa okusigala ku ntikko y’obulamu bwo. Okuzuula amangu ekizibu nga kookolo kiyinza okuyamba nnyo okubeera omulamu obulungi, obulamu obuwanvu. Yogerako n’omusawo wo ku ngeri obulwadde bwo gye bunaakwata ku bulamu bwo n’obulamu bwo obw’ekiseera ekiwanvu.

Ebintu bye tusaanidde okujjukira okuva mu mboozi eno (Take-Home Message)

Okay, kale ka tufunze ebimu ku bintu ebikulu eby’okujjukira ku Peutz-Jeghers Syndrome (PJS) bye twogeddeko:

• PJS mbeera ya buzaale ereetera ebizimba okutondebwa munda mu mubiri, amabala ku lususu, n’obulabe obw’okwongera okukwatibwa kookolo .
• Kikulu okugenda mu basawo amagezi bw’oba ​​olina obubonero ng’amabala amaddugavu okwetooloola akamwa ne ku bitundu by’omubiri (naddala mu buto), okulumwa olubuto, n’omusaayi mu musulo.
• Okuva bwe kiri nti kino kiyinza okuba eky’obuzaale, singa omuntu mu maka akifuna, kiba kirungi n’abalala nabo okwekebejjebwa obuzaale n’okubudaabudibwa .
• Bw’oba ​​olina PJS, kikulu okubeera n’okukeberebwa buli kiseera . Kino kiyinza okuyamba okuzuula kookolo n’ebizibu ebirala nga bukyali.
• Wadde ng’embeera eno ebeerawo obulamu bwo bwonna, ng’abasawo balabiriddwa bulungi n’obujjanjabi obutuufu, osobola okubeera n’obulamu obwa bulijjo . Tosattira, wabula beera bulindaala.

Bw’oba ​​olina ekibuuzo ekirala kyonna ku nsonga eno, yogerako n’omusawo wo. Basobola okukuwa amagezi agakusaanira.

` Peutz-Jeghers Syndrome, PJS, obulwadde bw’obuzaale, ebizimba mu lubuto, amabala g’olususu, akabi ka kookolo, STK11 gene, colonoscopy, endoscopy