Hari umuntu wo mu muryango wawe warwaye kanseri y'amara? Reka tuvuge kuri iyi ndwara ya genetiki (Familial Adenomatous Polyposis - FAP)!

Hari umuntu wo mu muryango wawe, wenda akiri muto, warwaye kanseri y'amara? Cyangwa se muganga yakubwiye ko ufite uduce duto (polyps) mu mara yawe hamwe n'ibibazo byo mu gifu? Waba warumvise ikintu nk'icyo cyangwa utacumvise, byaba ingenzi cyane kumenya iyi ndwara yitwa 'FAP' tugiye kuvugaho uyu munsi. Kuko nubwo ari gake cyane, iyo imenyekanye hakiri kare, ishobora kukurinda ibibazo byinshi bikomeye.

Mu magambo make, FAP ni iki?

Mu magambo make, Familyal Adenomatous Polyposis, cyangwa FAP mu magambo ahinnye, ni indwara iterwa n’uturemangingo (genetic ) ituma udukoko twinshi (polyps) twitwa adenomas, dushobora kuba kanseri, tukiba mu mara yawe ndetse rimwe na rimwe no mu mara yawe.

Tekereza kuri ibi, hari abantu bamwe bakuramo kimwe cyangwa bibiri muri ibi bibyimba mu mara yabo uko bagenda bakura. Ibyo ni ibisanzwe. Ariko ku muntu ufite 'FAP', akenshi aba afite ibibyimba birenga ijana, rimwe na rimwe ibihumbi , ariko bitangira kumera akiri muto cyane, wenda afite imyaka icumi. Kubwibyo, amahirwe y'uko kimwe muri ibi bibyimba kizahinduka kanseri ('kanseri y'inkondo y'umura'), ni ukuvuga ibyago byo kurwara mu buzima bwe bwose, ni menshi cyane .

Kugira ngo abaganga bagenzure ibi byago, akenshi basaba ko habaho kubagwa kugira ngo bakureho amara yose (colectomy total) . Hari igihe no ku nda irakurwaho (proctocolectomy). Ibi biterwa nuko muri FAP, ibi bibyimba bikura vuba cyane ku buryo bitagenzurwa no kubikuraho kimwe kimwe. Mu by'ukuri, iyo ubu buvuzi budakozwe, abantu benshi bafite FAP bazarwara kanseri bageze mu kigero cyo hagati .

Abantu bafite FAP bashobora kurwara izindi ndwara, atari mu mara gusa, ahubwo no mu zindi hantu, nko mu ruhu, mu ngingo zoroshye, mu menyo no mu magufwa. Ndetse na nyuma yo gukuraho amara, ushobora gukenera gukomeza gupimwa kugira ngo urebe niba hari izindi ndwara, kandi ushobora no kubagwa.

Ni izihe ngorane zo kurwara kanseri ku bantu bafite FAP?

Iyo umuntu urwaye FAP atavuwe, aba afite amahirwe hafi 100% yo kurwara kanseri y'amara. Nanone, kanseri ishobora kugaragara mbere kandi akiri muto kurusha abandi bantu. Niba umuntu wo mu muryango azwiho kugira iyi ndwara, abana bo muri iyo miryango bagomba kwisuzumisha kanseri y'amara buri mwaka guhera ku myaka 10 .

Uretse kanseri y'amara, abantu bafite FAP bari mu kaga ko kurwara izindi kanseri:

• Kanseri yo mu gice cyo hejuru cy'amara mato (`kanseri ya duodenal`) - hafi 8%
• Kanseri ya tiroyide yo mu bwoko bwa papillary - hafi 2%
• Kanseri y'impyiko - hafi 2%
• Kanseri y'umwijima yitwa ``Hepatoblastoma`` (cyane cyane mu bana) - hafi 1.5%
• Kanseri yo mu gifu - hafi 1%
• Ibibyimba byo mu bwonko n'umugongo - biri munsi ya 1%

Ese hari ubwoko butandukanye bwa FAPs?

Yego, hari ubwoko bw'ingenzi bwa `FAP` hamwe n'ubundi bwoko butandukanye butandukanye bwiyongereye kuri ibyo.

• "Classic" FAP: Ibi bigaragazwa no kuba hari adenoma zirenga 100 mu mara.
• "Attenuated" FAP (AFAP): Iyi ni ubwoko budakabije cyane. Hari hagati ya 20 na 100 cysts mu mara.
• Gardner syndrome: Kimwe na 'FAP' ya kera, hari ibibyimba birenga 100 mu mara. Byongeye kandi, hari ubundi bwoko bw'ibibyimba bivuka ahandi mu mubiri.
• Turcot syndrome: Ikibyimba cya kanseri gikura mu bwonko hamwe n'ibibyimba byinshi mu mara.

Iyi ndwara yitwa FAP ikunze kugaragara gute?

FAP ni indwara idakunze kugaragara cyane . Ifata umuntu umwe ku bantu 8.000. FAP ifata hafi 0.5% bya kanseri zose z'amara. Ubwoko bw'indwara nka AFAP, Gardner syndrome, na Turcotte syndrome ni indwara idakunze kugaragara cyane.

Ni irihe tandukaniro riri hagati ya FAP na Lynch syndrome?

Indwara ya Lynch ni indi ndwara yo mu muryango yongera ibyago byo kurwara kanseri y'amara n'izindi kanseri. Indwara ya Lynch yitwa kandi HNPCC (hereditary nonpolyposis colorectal cancer syndrome). Nk'uko izina ribigaragaza, ibi ntibivuze ko umubare munini w'ibibyimba by'amara bivuka .

Abantu barwaye indwara ya Lynch syndrome bashobora kurwara kanseri nubwo baba bafite ikibyimba kimwe cyangwa byinshi mu mara. Nanone, ibibyimba na kanseri bikura nyuma gato ugereranije na FAP, kandi ibyago byo kurwara bikaba bike gato. Izi ndwara ebyiri ziterwa n'impinduka zitandukanye mu ngirabuzimafatizo .

Ni ibihe bimenyetso bya FAP? Twabimenya dute?

Muri FAP, polyps zo mu mara zitangira kubaho kare cyane kurusha mu bantu muri rusange, akenshi mu gihe cy'ubwangavu . Izi polyps zishobora kudatera ibimenyetso kugeza igihe zibaye nini cyane. Ariko niba ukoze colonoscopy, muganga wawe arashobora kuzibona.

Abantu barwaye `FAP` bashobora kuba bafite amagana cyangwa ibihumbi bya polyps mu mara yabo . Abantu barwaye `AFAP` bafite nibura 20. Kubera ko polyps ari nyinshi kandi zikura vuba muri `FAP`, bashobora gutera ibimenyetso kurusha polyps. Ibimenyetso birimo:

• Kuva amaraso mu maraso
• Impiswi
• Ububabare bwo mu nda budakira

Abantu bafite FAP rimwe na rimwe bashobora kugira ibimenyetso abaganga bashobora kubona inyuma:

• Dermatofibromas: Udusimba turi munsi y'uruhu dufite uturemangingo tw'imitsi, tumeze nk'inkovu.
• Udukoko two mu bwoko bwa epidermal cysts: Udusimba twuzuyemo keratin, duherereye munsi y'uruhu.
• Osteomas: Ibibyimba bitari kanseri biba mu magufwa. Bikunze kuboneka mu musaya cyangwa mu gahanga.
• Amenyo y'inyongera cyangwa amenyo yangiritse:Ibi biboneka kuri X-ray y'amenyo.
• Kugabanuka k'ubushyuhe bw'amaso mu gihe cyo kuvukana (CHRPE): Ibi bishobora kugaragara mu gihe cyo gusuzuma amaso. Ariko, akenshi ntibitera ibibazo byo kureba.

Ibimenyetso bya FAP bikunze gutangira ku kigero kingana iki?

Muri FAP, gukura kw'amara akenshi bitangira ahagana ku myaka 16. Muri AFAP, bishobora gutangira nyuma gato. Iyo ababyeyi bawe n'abaganga bazi ko uri mu kaga ko kuyirwara, bashobora gutangira kugupima umaze imyaka 10. Iyo utabikoze, ushobora gusanga ufite iyo ndwara bitewe n'ibimenyetso byawe.

Ni iyihe mpamvu nyamukuru ya FAP?

Impamvu nyamukuru ya FAP ni impinduka mu ngirabuzimafatizo . Iyi ngirabuzimafatizo yitwa adenomatous polyposis coli (APC) gene . Nanone yitwa gene igabanya tumor suppressor. Ibi bivuze ko iyi ngirabuzimafatizo ibuza uturemangingo gukura nabi ngo tugire ibibyimba. Iyo impinduka mu ngirabuzimafatizo zibayeho, imikorere y'iyi ngirabuzimafatizo irahungabana.

Impinduka mu ngirabuzimafatizo itera FAP ni impinduka mu miterere y’uturemangingo. Ibi bivuze ko atari ikintu kibaho mu buzima, ahubwo ari ikintu kibaho mu gihe cyo gusama . Iki ni ikintu gihererekanywa kuva ku gisekuru kijya ku kindi. Niba umwe mu babyeyi bawe afite iyi mpinduka, ufite amahirwe 50% yo kuyiragwa . Ariko, hafi 30% by'izi mpinduka ni nshya (mutations y'umwimerere), ni ukuvuga ko zitarazwe . Kubwibyo, hafi 30% by'abarwayi banduye FAP bashobora kuba badafite amateka y'umuryango wabo y'iyi ndwara.

Ni izihe ngorane zishobora guterwa na FAP?

Ingorane ikomeye yo kwitabwaho muri FAP ni kanseri y'inkondo y'umura . Kubagwa kugira ngo ukureho ikondo y'umura (colectomy) bishobora kugabanya cyane iyi ngaruka. Ariko, kubaho udafite ikondo y'umura bishobora kugira ingaruka ku buzima bwawe kuko uburyo ucamo umwijima burahinduka. Ushobora gukenera gukoresha ikondo y'umura cyangwa ikondo y'umura aho gukoresha ikondo y'umura.

Kubera ko ihinduka ry’uturemangingo (gene mutation) ritera FAP riri muri buri turemangingo mu mubiri wawe, ibibyimba bishobora kumera ahantu hose mu mubiri wawe . Izindi ndwara zishobora no kumera hanze y’amara, kandi rimwe na rimwe zishobora kuba kanseri. Muganga wawe ashobora kukugira inama yo gusuzuma kugira ngo urebe ubwoko bw’ibibyimba:

• Polyps zo mu gifu cya Duodenal/periampullary:Ibi bikura mu gice cyo hejuru cy'amara yawe mato (duodenum), cyangwa aho umuyoboro w'inyongo cyangwa umuyoboro w'inyongo bihurira n'amara mato. Hafi ya buri wese ufite FAP arwara ibi. Abantu bake bashobora kurwara kanseri y'inyongo, kanseri y'impyiko, kanseri y'inyongo mu muyoboro, cyangwa kanseri y'inyongo.
• Polyps zo mu nda: Abantu bagera kuri 90% barwaye FAP barwara polyps zo mu nda, ariko 1% gusa muri zo bakuramo kanseri.
• Ibibyimba bya Desmoid: Ibi ni ibibyimba bitari kanseri bikora mu ngingo zihuza. Biboneka ku bantu bagera kuri 15% by'abafite FAP. Nubwo atari kanseri, rimwe na rimwe bishobora gutera ibibazo bikomeye by'ubuzima ndetse n'urupfu. Bishobora kuba bibi cyane, bigakwirakwira mu ngingo zegereye aho biri, bigakanda cyangwa bigafunga imiyoboro y'amaraso, ingingo, n'imitsi. Biragoye kubikuraho kandi bishobora kongera kugaruka.
• Kanseri ya tiroyide yo mu bwoko bwa papillary: Ubu bwoko bwa kanseri ya tiroyide bugaragara ku bantu bagera kuri 2% bafite FAP. Ntabwo ari ikibazo gikomeye cyane kandi akenshi irakira.
• Kanseri y'umwijima: Abana bafite FAP, cyane cyane, bafite ibyago bike byo kurwara kanseri y'umwijima idakunze kugaragara yitwa hepatoblastoma.
• Medulloblastoma: Iyi ni kanseri yo mu bwonko. Ishobora guterwa na Turcot syndrome, ifitanye isano na FAP. Ndetse no kuri FAP, ni gake cyane.
• Udukoko two mu mara: Niba udakuwemo utwo dukoko hamwe n'amara yawe, uba uri mu kaga ko kurwara udukoko two mu mara, bityo uzakenera gupimwa na proctoscopy mu buzima bwawe bwose.

Wamenya ute neza ko ufite FAP?

Niba ushaka kumenya niba warazwe APC gene mutation, ushobora kubimenya ukoresheje isuzuma rya gene . Ikizamini cya gene gifata icyitegererezo cya ADN yawe (nk'amaraso cyangwa amacandwe) maze kigashaka impinduka runaka za gene. Niba ufite iyo mpinduka, intambwe ikurikiraho ni ugukorerwa colonoscopy kugira ngo urebe niba ufite adenoma.

FAP irasuzumwa iyo hari nibura polyps 100 (20 niba ari AFAP) kandi hakaba hari APC gene mutation . FAP si yo ndwara yonyine ivukanwa itera adenomatous polyps. MUTYH-associated polyposis ni indwara isa nayo, ariko iterwa na mutation muri gene itandukanye yitwa MUTYH.

Gahunda yo kuvura umuntu ufite FAP ni iyihe?

Gahunda yo kuvura FAP ikubiyemo gukurikirana ubuzima bwose no kubagwa ku ngufu.Mu ntangiriro, niba ufite umubare muto wa polyps (cyangwa AFAP), muganga wawe ashobora kuzikuramo ukwazo mu gihe cyo kubagwa mu maraso. Iyo polyps zibaye nini cyane cyangwa zigahinduka kanseri, kubagwa bishobora kuba ngombwa.

Kubaga

Abantu benshi bafite FAP ya kera bazakenera kubagwa burundu mu kigero cy’imyaka makumyabiri cyangwa mirongo itatu . Muganga wawe ni we uzagena igihe cyo kubagwa hashingiwe ku bintu byihariye bishobora gutuma urwara. Azakubwira kandi ubwoko butandukanye bwa colectomy ushobora kubagwa.

Iyo urura rwawe rukuweho, havuka icyuho hagati y’amara mato n’akarito (cyangwa anus). Hari igihe umuganga ubaga ashobora kongera guhuza impande zombi. Hanyuma ushobora gukora imyitozo ngororamubiri unyuze mu kanwa nk’uko bisanzwe. Niba ibyo bidashoboka, bazarema 'ostomy', ari wo mwenge mushya mu nda yawe kugira ngo umwanda wawe usohoke.

Gusuzuma

Itsinda ry'abaganga bawe rizakugira inama ku nshuro ugomba gupimwa ubwoko butandukanye bwa kanseri, hashingiwe ku bintu bishobora kugutera ibyago. Kuri FAP ya kera, colonoscopy isabwa buri mwaka kuva ku myaka 10 kugeza igihe cyo gucibwamo . Kuri AFAP, gupimwa bigomba gutangira buri mwaka, ndetse no ku myaka 20.

Nyuma yo kubagwa mu kibuno, ugomba gukomeza gukorerwa ibizamini bya sigmoidoscopy, bisuzuma igice cyo hasi cy'igogora ryawe (GI - inzira y'igifu). Niba ufite igice cy'igogora ryawe gisigaye, kigomba gusuzumwa nibura buri mezi 6 kugeza kuri 12. Niba igogora ryawe ryakuweho rigasimbuzwa ifu y'ikibuno, rigomba gusuzumwa nibura buri mwaka 1 kugeza kuri 4.

Izindi suzumabumenyi ziteganyijwe zishobora kuba zirimo:

• Endoskopi yo hejuru: Ibi bisa na colonoscopy, ariko bikorwa ku gice cyo hejuru cy'igogora ryawe. Endoskopi yoherezwa mu muhogo wawe ikajya mu nda yawe no mu gice cyo hejuru cy'amara yawe mato (duodenum) kugira ngo harebwe niba hari polyps. Niba zihari, muganga wawe ashobora kuzikuraho icyarimwe n'uburyo bwo kuzikoresha.
• Ibizamini bya Ultrasound kugira ngo harebwe kanseri ya tiroyide cyangwa umwijima.
• Ibizamini bya CT scan (computed tomography scan) cyangwa MRI (magnetic resonance imaging) ku ndwara ziterwa n'ibibyimba bya desmoid.

Ese FAP ishobora kwirindwa?

Ubujyanama mu by'ingirabuzimafatizo kugira ngo usobanukirwe ingaruka zo kwanduza abana bawe indwara ya FAPBishobora gufasha. Kuvuga kuri izi ngaruka bishobora kugufasha gutegura umuryango wawe. Ubusanzwe, ntibishoboka gukumira ihinduka ry’uturemangingo mu gihe cyo gusama, ariko hari uburyo butandukanye bwo kuboneza urubyaro ushobora gusuzuma.

Imyaka yo kubaho y'umuntu ufite FAP ni iyihe?

Iyo itavuwe, igihe cyo kubaho cy’imyaka 42 ni hafi . Ariko, iyo uvuwe neza kandi ugahabwa ubuvuzi, ushobora kubaho ubuzima busanzwe . Nyuma yo gukurwaho urura rwawe, ibyago byinshi bituruka ku zindi kanseri z’igogora ndetse n’izindi kanseri zitera ibibazo cyane. Izi kanseri ntizikunze kugaragara cyane nka kanseri y’urura.

Niba mfite iyi ndwara, ni iki nkwiye kwitega?

Niba usanzwe urwaye FAP, ushobora kwitega ko uzakorerwa ibizamini by’ubuvuzi ubuzima bwawe bwose ndetse wenda no kubagwa inshuro nyinshi kugira ngo ukureho ibibyimba . Ibibyimba bikura hanze y’amara yawe ntabwo bikunze kurwara kanseri nk’uko bimeze kuri polyps mu mara yawe. Nubwo ibibyimba byo mu mara atari kanseri, rimwe na rimwe bishobora kuba ikibazo gito cyangwa ikibazo gikomeye.

Ushobora kwitega ko uzabagwa burundu mu gihe cy'ubuzima bwawe . Nyuma y'ibyo, amara yawe ashobora kongera guhuzwa, cyangwa ushobora kugira akantu ko mu icupa ry'inyuma cyangwa ostomy. Buri buryo muri ubu bushobora gutera ingorane runaka. Ariko, ushobora kubaho ubuzima burambye kandi buzira umuze nyuma yo kubagwa burundu.

Ni ibisanzwe kumva ubabaye kandi uhangayitse iyo umenye ko ufite indwara y’uturemangingo izagusaba ubuvuzi bw’ubuzima bwawe bwose. Ariko, umaze kubimenya, ushobora gufata ingamba zo gucunga ibyago byo kurwara kanseri . Nubwo kubagwa biri mu gihe cyawe kizaza, abaganga bazagerageza kubikora neza uko bishoboka kose.

Abantu benshi bashobora gukorerwa laparoscopic kugira ngo bakureho amara make, ibyo bikorwa binyuze mu gukata uduce duto kandi bigakira vuba . Abantu bafite agapfunyika k'ikiziba bashobora kubagwa inshuro nyinshi, ariko amaherezo bazashobora gukoresha ubwiherero nk'uko byari bimeze mbere.

Ibintu by'ingenzi cyane byo kwibuka mu byo twaganiriyeho (Ubutumwa bwo kujyana mu rugo)

Noneho, dukurikije ibyo twavuze kuri `FAP`, dore ibintu by'ingenzi ugomba kwibuka:

• FAP ni indwara y’uturemangingo ishobora guhererekanywa mu bisekuruza.
• Ibi bituma mu mara havuka amagana cyangwa ibihumbi bya polyps , zishobora kuba kanseri.
• Iyo itavuwe, ibyago byo kurwara kanseri y'amara biba byinshi cyane .
• Ni ingenzi cyane gutangira gupimwa indwara y’inkondo y’umura kuva ukiri muto (imyaka 10-12) .
• Uburyo bw'ingenzi bwo kuvura ni ukubaga kugira ngo bakureho urura runini (colectomy) .
• Ndetse na nyuma yo gukuraho amara, hakenewe isuzuma ry’ubuzima bwose kugira ngo harebwe niba hari ibibyimba biri kugaragara ahandi mu mubiri.
• Nubwo iki ari ikibazo cy’ubuzima bwose kigomba kwitabwaho, hamwe no kuvurwa no gupimwa neza, birashoboka kubaho ubuzima busanzwe kandi bufite ubuzima bwiza .

Niba wowe cyangwa umuntu wo mu muryango wawe afite kimwe muri ibi bimenyetso, cyangwa niba ushaka kumenya byinshi kuri ibi, shaka inama kwa muganga . Gusobanukirwa hakiri kare no gufata ingamba hakiri kare ni byo bintu by'ingenzi cyane.

FAP , Polposis yo mu muryango, Indwara z'uturemangingo, Polpisi zo mu mara, Kanseri y'amara, Gene ya APC, Colonoscopy, Colectomy, Kubaga