Waliwo omuntu yenna mu maka go eyafuna kookolo w’olubuto olunene? Jjangu, ka twogere ku mbeera eno ey'obuzaale (Familial Adenomatous Polyposis - FAP)!

Waliwo omuntu yenna mu maka go, oboolyawo ku myaka emito, eyakwatibwa kookolo w’olubuto olunene? Oba omusawo akugambye nti olina obutundutundu obutono obukula (polyps) mu kyenda kyo wamu n’obuzibu mu lubuto? Oba owulidde ekintu ng'ekyo oba nedda, kiyinza okuba ekikulu ennyo okumanya embeera eno eyitibwa `FAP` gye tugenda okwogerako leero. Kubanga wadde nga tekitera kubaawo, singa okitegeera nga bukyali, kiyinza okukuwonya ebizibu bingi ebinene.

FAP kye ki mu bigambo ebyangu?

Mu ngeri ennyangu, Familial Adenomatous Polyposis oba FAP mu bufunze, mbeera ya buzaale ereetera ebimera ebitono ebinene (polyps) ebiyitibwa adenomas, ebiyinza okufuuka kookolo, okutondebwa mu kyenda ekinene n’oluusi munda mu nseke yo.

Lowooza ku kino, abantu abamu bafuna ekimu oba bibiri ku bizimba bino mu kyenda ekinene bwe bagenda bakaddiwa. Ekyo kya bulijjo. Naye eri omuntu alina `FAP`, atera okuba n'ebizimba bino ebisukka mu kikumi, oluusi enkumi n'enkumi , naye bitandika okukula ku myaka emito ennyo, mpozzi nga muto nga wa myaka kkumi. N’olwekyo, emikisa nti ekimu ku bizimba bino okufuuka kookolo (`kookolo w’olubuto n’omumwa gwa nnabaana`), kwe kugamba, akabi mu bulamu bwonna, mungi nnyo .

Okusobola okufuga akabi kano, abasawo batera okukuwa amagezi okulongoosebwa okuggyamu ekyenda ekinene kyonna (total colectomy) . Oluusi, n’omumwa gwa nnabaana guggyibwamu (proctocolectomy). Kino kiri bwe kityo kubanga mu FAP, ebizimba bino bikula mangu nnyo ne bitasobola kufugibwa nga obiggyamu kimu ku kimu. Mu butuufu, singa okulongoosebwa kuno tekukolebwa, abantu bangi abalina FAP bajja kufuna kookolo nga bawezezza emyaka egy’omu makkati .

Abantu abalina FAP basobola okufuna ebizimba ebirala, si mu kyenda kyokka, wabula ne mu bifo ebirala, gamba ng’olususu, ebitundu ebigonvu, amannyo n’amagumba. Ne bw’omala okuggyibwako ekyenda ekinene, oyinza okwetaaga okugenda mu maaso n’okukeberebwa okukebera ebizimba bino ebirala, era oyinza okwetaaga okubilongoosa nabyo.

Obulabe ki obw’okukwatibwa kookolo eri abantu abalina FAP?

Singa tajjanjabwa, omuntu alina FAP alina emikisa kumpi 100% okukwatibwa kookolo w’olubuto olunene. Ate era kookolo asobola okukula amangu ate nga muto okusinga abantu abalala. Singa omuntu w’omu maka amanyiddwa nti alina obulwadde buno, abaana mu maka ago balina okwekebejjebwa buli mwaka okutandika n’emyaka 10 .

Ng’oggyeeko kookolo w’olubuto olunene, abantu abalina FAP bali mu bulabe bw’okufuna ebika bya kookolo ebirala:

• Kookolo w'ekitundu eky'okungulu eky'ekyenda ekitono (`Duodenal cancer`) - nga 8%
• Kookolo w’ekibumba ky’omubiri (papillary thyroid cancer) - nga 2% .
• Kookolo w’olubuto - nga 2% .
• Kookolo w'ekibumba ayitibwa ``Hepatoblastoma`` (naddala mu baana) - nga 1.5%
• Kookolo w'olubuto - nga 1% .
• Ebizimba ku bwongo n’omugongo - ebitakka wansi wa 1% .

Waliwo ebika bya FAP eby’enjawulo?

Yee, waliwo ekika ekikulu ekya `FAP` n'ebika ebirala ebiwerako nga kwotadde n'ekyo.

• "Classic" FAP: Kino kimanyiddwa olw'okubeerawo kwa adenomas ezisoba mu 100 mu kyenda ekinene.
• "Attenuated" FAP (AFAP): Kino kika kitono ekitali kya maanyi nnyo. Mu kyenda ekinene mulimu ebizimba ebiri wakati wa 20 ne 100.
• Gardner syndrome: Okufaananako ne classic `FAP`, waliwo ebizimba ebisukka mu 100 mu kyenda ekinene. Okugatta ku ekyo, ebika by’ebizimba ebirala bikula awalala mu mubiri.
• Turcot syndrome: Ekizimba kya kookolo kikula mu bwongo wamu n’ebizimba ebingi mu byenda.

Embeera eno eyitibwa FAP ya bulijjo etya?

FAP mbeera ya bbula nnyo . Bukwata abantu nga omu ku buli 8,000. FAP ekola ebitundu nga 0.5% ku kookolo yenna ow’olubuto olunene. Ebika ebitonotono nga AFAP, Gardner syndrome, ne Turcotte syndrome biba bitono nnyo.

Njawulo ki eriwo wakati wa FAP ne Lynch syndrome?

Lynch syndrome mbeera ndala ey’obuzaale eyongera obulabe bw’okufuna kookolo w’olubuto olunene ne kookolo omulala. Obulwadde bwa Lynch era buyitibwa HNPCC (obulwadde bwa kookolo w’olubuto n’omumwa gwa nnabaana (hereditary nonpolyposis colorectal cancer syndrome). Nga erinnya bwe liraga, kino tekitegeeza nti ebizimba by’ekyenda ekinene bingi bikula .

Abantu abalina obulwadde bwa Lynch syndrome basobola okufuna kookolo ne bwe baba n’ekizimba kimu oba ebisingawo mu kyenda ekinene. Ate era, ebizimba ne kookolo bikula oluvannyuma katono okusinga mu FAP, era akabi katono katono. Embeera zino ebbiri ziva ku nkyukakyuka z'obuzaale ez'enjawulo .

Bubonero ki obw’obulwadde bwa FAP? Tukitegeera tutya?

Mu FAP, ebiwuka ebiyitibwa colon polyps bitandika okutondebwa nga bukyali nnyo okusinga mu bantu bonna, emirundi mingi mu myaka gy’obutiini . Ebirungo bino ebiyitibwa polyps biyinza obutaleeta bubonero bwonna okutuusa nga binene mu ngeri ey’akabi. Naye bw’oba ​​olina ekyuma ekikukebera ekyenda ekinene, omusawo asobola okuzizuula.

Abantu abalina `FAP` bayinza okuba n'ebikumi oba enkumi n'ebikumi bya polyps mu kyenda kyabwe . Abantu abalina `AFAP` balina waakiri 20. Olw'okuba ebiwuka ebiyitibwa polyps biba bingi era bikula mangu mu `FAP`, bitera okuleeta obubonero okusinga ebiwuka ebiyitibwa polyps. Obubonero buno mulimu:

• Okuvaamu omusaayi mu nseke
• Embiro
• Obulumi mu lubuto obutawona

Abantu abalina FAP oluusi bayinza okuba n’obubonero abasawo bwe basobola okutegeera ebweru:

• Dermatofibromas: Ebizimba ebiringa ebiwuziwuzi ebiringa enkovu wansi w’olususu.
• Ebizimba by’olususu: Ebizimba ebijjudde keratin, ebyekulungirivu ebisangibwa wansi w’olususu.
• Osteomas: Ebizimba ebitali bya kookolo ebikolebwa mu magumba. Zisinga kusangibwa mu ggumba ly’akawanga oba mu kiwanga.
• Amannyo ag’enjawulo oba amannyo agakoseddwa:Bino osobola okubiraba ku X-ray y’amannyo.
• Congenital hypertrophy of the retinal pigment epithelium (CHRPE): Bino osobola okubiraba ng’okeberebwa amaaso. Kyokka ebiseera ebisinga tezireeta buzibu mu kulaba.

Obubonero bwa FAP butera okutandika ku myaka ki?

Mu FAP, okukula kw’ekyenda ekinene kutera okutandika ku myaka 16. Mu AFAP, kuyinza okutandika oluvannyuma katono. Singa bazadde bo n’abasawo bakimanya nti oli mu bulabe bw’obulwadde buno, bayinza okutandika okukukebera ng’omaze emyaka 10. Bw’otokikola, oyinza okuzuulibwa nti olina obulwadde buno olw’obubonero bwo.

Kiki ekisinga okuvaako FAP?

Ekisinga okuvaako FAP kwe kukyusa obuzaale . Ensengekera eno eyitibwa obuzaale obuyitibwa adenomatous polyposis coli (APC) gene . Era kiyitibwa ekirungo ekiziyiza ebizimba. Kino kitegeeza nti obuzaale buno bulemesa obutoffaali okukula nga tebufugibwa ne bukola ebizimba. Enkyukakyuka y’obuzaale bw’ebaawo, omulimu gw’obuzaale buno gutaataaganyizibwa.

Enkyukakyuka y’obuzaale ereeta FAP nkyukakyuka ya germline. Kino kitegeeza nti si kintu ekibaawo mu bulamu, wabula ekintu ekibaawo nga ofunye olubuto . Kino kintu ekiyisibwa okuva ku mulembe okudda ku mulala. Singa omu ku bazadde bo aba n’enkyukakyuka eno, olina emikisa gya 50% okugisikira . Naye, nga 30% ku nkyukakyuka zino mpya (enkyukakyuka ezasooka), kwe kugamba, tezisikira . N’olwekyo, abalwadde nga 30% abazuuliddwa nga balina FAP bayinza obutaba na byafaayo bya famire ya bulwadde buno.

Bizibu ki ebiyinza okuva mu FAP?

Ekizibu ekisinga obukulu okuddukanya mu FAP ye kookolo w'olubuto olunene . Okulongoosa okuggyamu ekyenda ekinene kyo (colectomy) kiyinza okukendeeza ennyo ku bulabe buno. Wabula okubeera nga tolina kyenda ekinene kiyinza okukosa obulamu bwo kubanga engeri gy’oyisaamu omusulo ekyuka. Oyinza okwetaaga okukozesa ensawo ya ileostomy oba ensawo ya ileal mu kifo ky’ekyenda ekinene.

Olw’okuba enkyukakyuka y’obuzaale ereeta FAP eri mu buli katoffaali mu mubiri gwo, ebizimba bisobola okukula wonna mu mubiri gwo . Ebizimba ebirala nabyo bisobola okuva ebweru w’ekyenda ekinene, era oluusi bisobola okufuuka kookolo. Omusawo ayinza okukuwa amagezi ku nteekateeka y’okukebera okusobola okunoonya ebizimba eby’ekika kino:

• Ebiwuka ebiyitibwa duodenal/periampullary polyps:Bino bikula mu kitundu eky’okungulu eky’ekyenda kyo ekitono (duodenum), oba omukutu gw’entuuyo oba omukutu gw’olubuto we gwegatta n’ekyenda ekitono. Kumpi buli muntu alina FAP bino abikulaakulanya. Abantu abatono basobola okufuna kookolo w’omumwa gwa nnabaana, kookolo w’ennywanto, kookolo w’olubuto mu mudumu oba kookolo w’omukutu gw’entuuyo.
• Obulwadde bw’olubuto: Abantu nga 90% abalina FAP bafuna obuwuka obuyitibwa stomach polyps, naye 1% bokka ku bano bafuuka kookolo.
• Ebizimba bya Desmoid: Bino bizimba ebitali bya kookolo ebikolebwa mu bitundu ebiyunga. Zibeera mu bantu nga 15% abalina FAP. Wadde nga si kookolo, oluusi (nga 5%) zisobola okuleeta obuzibu obw’amaanyi mu bulamu n’okufa. Ziyinza okuba ez’obusungu ennyo, ne zisaasaana mu bizimbe ebiriraanyewo, ne zinyiga oba okuziba emisuwa, ebitundu by’omubiri n’obusimu. Zizibu okuziggyawo era zisobola okuddamu.
• Kookolo wa thyroid ow’ekika kya papillary: Kookolo w’ekibumba ow’ekika kino abeera mu bantu nga 2% abalina FAP. Tekirina bulabe nnyo era kitera okuwona.
• Kookolo w’ekibumba: Okusingira ddala abaana abalina FAP balina akabi akatono ak’okufuna kookolo w’ekibumba atatera kulabika ayitibwa hepatoblastoma.
• Medulloblastoma: Ono kookolo w’obwongo. Kiyinza okubaawo n’obulwadde bwa Turcot syndrome, obukwatagana ne FAP. Ne bwe kiba nga FAP, tekitera kubaawo nnyo.
• Rectal polyps: Bw’oba ​​toggyiddwaako rectum yo wamu n’ekyenda ekinene, oba mu bulabe bw’okufuna rectal polyps, kale ojja kwetaaga okukeberebwa proctoscopy obulamu bwo bwonna.

Omanya otya mu bukakafu oba olina FAP?

Bw’oba ​​oyagala okumanya oba osikira enkyukakyuka y’obuzaale bwa APC, osobola okukizuula ng’okola okukebera obuzaale . Okukebera obuzaale kutwala sampuli ya DNA yo (nga omusaayi oba amalusu) ne kunoonya enkyukakyuka z’obuzaale ezenjawulo. Bw’oba ​​olina enkyukakyuka eno, ekiddako kwe kukebera colonoscopy okukebera oba waliwo adenomas.

FAP ezuulibwa nga waliwo waakiri polyps 100 (20 bwe kiba AFAP) n’okubeerawo kw’enkyukakyuka y’obuzaale bwa APC . FAP si y’embeera yokka ey’obuzaale ereeta adenomatous polyps. MUTYH-associated polyposis embeera efaananako bwetyo, naye eva ku nkyukakyuka mu ggiini ey’enjawulo eyitibwa MUTYH.

Enteekateeka y’obujjanjabi eri omuntu alina FAP eri etya?

Enteekateeka y’obujjanjabi bwa FAP erimu okulondoola obulamu bwonna n’okulongoosebwa okukakatako.Mu biseera ebisooka, bw’oba ​​olina ebirungo ebitono ebiyitibwa polyps (oba AFAP), omusawo wo ayinza okubiggyako kinnoomu mu kiseera ky’okukebera ekyenda ekinene (polypectomy). Ebirungo ebiyitibwa polyps bwe bifuuka ebinene ennyo oba nga bifuuka kookolo, kiyinza okwetaagisa okulongoosebwa.

Okuloongoosa

Abantu abasinga abalina classic FAP bajja kwetaaga okukola total colectomy mu myaka gyabwe egy'amakumi abiri oba egy'amakumi asatu . Omusawo wo ajja kusalawo ddi lw’olina okulongoosebwa okusinziira ku bintu ebikukwatako ebitongole. Era ajja kwogera naawe ku bika bya colectomy eby’enjawulo by’osobola okukola.

Ekyenda ekinene bwe kiggyibwamu, wabaawo ekituli wakati w’ekyenda kyo ekitono n’omumwa gwa nnabaana (oba enseke). Oluusi, omusawo alongoosa asobola okuddamu okuyunga enkomerero zino ebbiri. Olwo osobola okufulumya ekyenda ng’oyita mu nseke yo nga bulijjo. Ekyo bwe kitasoboka, bajja kukola ‘ostomy’, nga kino kye kifo ekipya mu lubuto lwo omusulo gwo ne gufuluma.

Okukebera

Ttiimu yo ey’abasawo ejja kukuwa amagezi ku mirundi gy’osaanidde okwekebejjebwa ebika by’ebizimba eby’enjawulo, okusinziira ku nsonga z’obulabe bwo ku bubwo. Ku FAP eya classic, okukebera colonoscopies buli mwaka kirungi okuva ku myaka 10 okutuuka ku colectomy . Ku AFAP, okwekebejja kulina okutandika buli mwaka, okutandika ku myaka 20.

Oluvannyuma lw’okusala colectomy, olina okugenda mu maaso n’okukeberebwa sigmoidoscopy, nga bino byekenneenya ekitundu ekya wansi eky’omukutu gwo ogwa GI. Bw’oba ​​olina ekitundu ky’omumwa gwa nnabaana ekisigaddewo, olina okukikebera buli luvannyuma lwa myezi 6 ku 12. Singa omumwa gwa nnabaana gwo gwaggyibwamu ne guteekebwamu ensawo ya ileal, wandibadde okeberebwa buli luvannyuma lwa myaka 1 ku 4.

Ebigezo ebirala ebitegekeddwa biyinza okuli:

• Upper endoscopy: Kino kifaananako n’eky’okukebera ekibumba, naye kikolebwa ku kitundu eky’okungulu eky’enkola yo ey’okugaaya emmere. Endoscope eyisibwa wansi mu mumiro gwo n’eyingira mu lubuto lwo n’ekitundu eky’okungulu eky’ekyenda kyo ekitono (duodenum) okukebera oba temuli biwuka ebiyitibwa polyps. Bwe wabaawo, omusawo asobola okuziggyawo mu kiseera kye kimu n’enkola.
• Okukebera kookolo wa thyroid oba ekibumba mu ultrasound.
• Okukebera CT scan (computed tomography scan) oba MRI (magnetic resonance imaging) okuzuula ebizimba ebiyitibwa desmoid.

FAP esobola okuziyizibwa?

Okubuulirira ku buzaale okutegeera akabi akali mu kuyisa embeera ya FAP eri abaana boKiyinza okuyamba. Okwogera ku kabi kano kiyinza okukuyamba okuteekateeka amaka go. Ebiseera ebisinga, tekisoboka kuziyiza nkyukakyuka mu buzaale okubeerawo ng’olubuto, naye waliwo engeri ez’enjawulo ez’okuteekateeka amaka z’osobola okulowoozaako.

Omuntu alina FAP awangaala ki?

Singa tebajjanjabwa, omuntu awangaala emyaka nga 42 . Kyokka, bw’ofuna obujjanjabi n’obujjanjabi obutuufu, osobola okubeera n’obulamu obwa bulijjo . Oluvannyuma lw’okuggyibwako ekyenda ekinene, akabi akasinga obunene kava ku kookolo omulala ow’enkola y’okugaaya emmere n’ebizimba ebisinga okuba ebizibu ebya ‘desmoid’. Bino tebitera nnyo okusinga kookolo w’olubuto olunene.

Bwemba nnina embeera eno, kiki kye nsuubira?

Singa ozuulibwa nti olina FAP, osobola okusuubira okukeberebwa mu by’obujjanjabi obulamu bwo bwonna era nga kiyinzika okulongoosebwa emirundi egiwerako okuggyawo ebizimba . Ebizimba ebikula ebweru w’ekyenda ekinene tebitera kufuuka kookolo okusinga ebizimba ebiyitibwa polyps mu kyenda ekinene. Wadde ng’ebizimba bya desmoid si bya kookolo, oluusi biyinza okuba ebizibu ebitonotono oba ebizibu ebinene.

Osobola okusuubira nti ojja kulongoosebwa total colectomy ng'okyali muto . Oluvannyuma lw’ekyo, ebyenda byo biyinza okuddamu okuyungibwa, oba oyinza okuba n’ensawo ya ileal oba ostomy. Buli emu ku nkola zino erimu akabi k’ebizibu ebitongole. Kyokka, okyayinza okubeera obulamu obuwanvu era obulungi oluvannyuma lw’okulongoosebwa.

Kya bulijjo okuwulira ennaku n’okweraliikirira ng’okitegedde nti olina embeera y’obuzaale ejja okwetaagisa okujjanjabibwa obulamu bwo bwonna. Kyokka, bw’omala okumanya, osobola okukola emitendera gy’okuddukanya obulabe bwo obwa kookolo . Wadde ng’okulongoosa kuli mu biseera byo eby’omu maaso, abasawo bajja kufuba okukifuula ekitaliimu buzibu nga bwe kisoboka.

Abantu bangi basobola okulongoosebwa mu ngeri ya laparoscopic okuggyamu ekyenda ekinene, nga kino kikolebwa nga bayita mu bitundu ebitonotono ne kiwona mangu . Abantu abalina ensawo ya ileal bayinza okulongoosebwa emirundi egiwerako, naye okukkakkana nga basobodde okukozesa kaabuyonjo nga bwe kyali edda.

Ebintu ebikulu bye tulina okujjukira okuva mu bye twogeddeko (Take-Home Message)

Okay, kale, okusinziira ku bye twogeddeko ku `FAP`, bino bye bintu ebikulu by'olina okujjukira:

• FAP mbeera ya buzaale esobola okuyisibwa okuyita mu milembe.
• Kino kireetera ebikumi oba enkumi n’enkumi z’ebiwuka ebiyitibwa polyps okutondebwa mu kyenda ekinene, ekiyinza okufuuka kookolo.
• Singa tebajjanjabwa, emikisa gy’okufuna kookolo w’olubuto olunene buba bwa maanyi nnyo .
• Kikulu nnyo okutandika okukeberebwa colonoscopy okuva ku myaka emito (emyaka 10-12) .
• Obujjanjabi obukulu kwe kulongoosa okuggyamu ekyenda ekinene (colectomy) .
• Ne bwe bamala okuggyibwako ekyenda ekinene, kyetaagisa okwekebejjebwa obulamu bwonna okukebera ebizimba ebikula awalala mu mubiri.
• Wadde nga eno mbeera ya bulamu bwonna era erina okuddukanyizibwa, ng’olina obujjanjabi obutuufu n’okukeberebwa, kisoboka okubeera n’obulamu obwa bulijjo era obulungi .

Bw’oba ​​ggwe oba omuntu mu maka go alina obubonero buno bwonna, oba bw’oba ​​oyagala okumanya ebisingawo ku nsonga eno, mazima ddala funa amagezi g’abasawo . Okumanya amangu n’okukola amangu bye bintu ebisinga obukulu.

` FAP, Familia Adenomatous Polyposis, Endwadde z’obuzaale, Colon Polyps, Kookolo w’olubuto olunene, APC Gene, Okukebera olubuto, Okuggyamu olubuto, Okulongoosa