Ese uzi indwara ya Cowden Syndrome? Reka tubiganireho mu buryo bworoshye!

Ese wabonye utubyimba duto tudasanzwe twibasira umubiri wawe? Cyangwa wenda wigeze kumva ko hari umuntu wo mu muryango wawe warwaye kanseri akiri muto cyane. Hari igihe habaho indwara idakunze kugaragara inyuma y’ibi bintu. Imwe muri izo ndwara ni Cowden Syndrome. Ese uyu munsi twabivugaho mu buryo burambuye ?

Indwara ya Cowden ni iki?

Muri make, indwara ya Cowden ni indwara idakunze kugaragara mu buryo bw’uturemangingo ikwirakwizwa binyuze mu turemangingo twacu. Abantu bafite iyi ndwara bashobora kurwara indwara zimeze nk’izitari kanseri. Ariko, bafite ibyago byinshi byo kurwara ubwoko bumwe na bumwe bwa kanseri.

Ibi ni ibisanzwe gute?

Ntabwo ari byo rwose. Iyi ndwara, yitwa Cowden Syndrome, ni gake cyane . Nk’uko abahanga mu by’ubuvuzi babivuga, ifata umuntu umwe mu bantu ibihumbi magana abiri. Ariko, hari igihe ibimenyetso byayo bitazwi neza, bityo ikaba idashobora kumenyekana.

None se indwara ya Cowden ni kanseri?

Oya, indwara ya Cowden si kanseri. Ariko, abantu bafite iyi ndwara bashobora kurwara ubwoko bumwe na bumwe bwa kanseri , kandi bashobora no kuyirwara bakiri bato kurusha uko bisanzwe (hakiri kare) . 'Indwara yo gutangira kare' bivuze ko iyi ndwara ikura bakiri bato kurusha uko bisanzwe. Urugero, umugore urwaye indwara ya Cowden ashobora kurwara kanseri y'ibere mbere y'imyaka 40. Kanseri y'ibere ntabwo ikunze kugaragara mbere y'imyaka 60. Hari ubundi bwoko bwa kanseri bushobora kuba bufitanye isano n'iyi ndwara:

• Kanseri y'inkondo y'umura (kanseri y'umura)
• Kanseri ya tiroyide (cyane cyane ubwoko bwitwa `kanseri ya tiroyide ya follicular`)
• Kanseri y'inkondo y'umura
• Kanseri y'impyiko
• Melanoma, kanseri y'uruhu

Ni irihe tandukaniro riri hagati ya Cowden Syndrome na PTEN hamartoma tumor syndrome?

Iyi ni ingingo irambuye, ariko ndayikomeza. `PTEN hamartoma tumor syndrome (PHTS)` ni itsinda ry'ibimenyetso by'umubiri biterwa n'impinduka (mutations) muri gene ya `PTEN`. Hafi umuntu umwe kuri bane barwaye gene ya Cowden basanze bafite iyi mpinduka muri gene ya `PTEN`.

Ariko, kubera ko ibimenyetso byabyo byombi bisa cyane, niba ufite indwara ya Cowden cyangwa indi ndwara isa nayo, muganga wawe azagufata nk'aho ufite PHTS. Ibi biterwa nuko gusuzumwa kanseri hakiri kare kandi kenshi ari ingenzi muri byombi.

Ni ibihe bimenyetso by'indwara ya Cowden?

Ibimenyetso by'iyi ndwara bikunze kugaragara mu mubiri mu myaka ya za 20. Hari abantu bavumbura ko bafite indwara ya Cowden iyo bashaka inama kwa muganga, haba bitewe n'udusimba twitwa hamartomas cyangwa kanseri ivuka bakiri bato.

Hamartoma (izwi nka 'ha-ma-to-mas') ni yo ndwara ikunze kugaragara cyane kandi igaragara cyane ya Cowden. Ni indwara zitari kanseri, zimeze nk'ibibyimba. Zishobora kumera ahantu hose ku mubiri, haba imbere no hanze. Zikunze kuboneka ku ijosi, mu maso no ku mutwe.

Hari ibindi bimenyetso:

• Kugira umutwe munini kuruta usanzwe (macrocephaly) .
• Utubyimba duto kandi tworoshye ku ruhu (trichilemmomas).
• Utubyimba tumeze nk'udusebe ku birenge, ku biganza no ku mugongo w'amaboko (acral keratosis).
• Uturemangingo tumeze nk'uduheri ku rurimi, ishinya, inyuma y'umuhogo, no mu tunyangingo (`oral papillomatosis`).

Ariko ni ngombwa kwibuka ibi: Kuba ufite bimwe muri ibi bimenyetso ntibivuze ko ufite indwara ya Cowden. Abaganga bakunze gukeka iyo ufite ibimenyetso bimwe na bimwe .

Ni iki gitera indwara ya Cowden Syndrome?

Indwara ya Cowden iterwa n'impinduka zimwe na zimwe mu ngirabuzimafatizo uvukana. Muri make, ngirabuzimafatizo zigenzura uburyo uturemangingo mu mubiri wacu dukura, tugatandukana, kandi tugapfa. Muri ngirabuzimafatizo ya Cowden, bitewe n'inenge iri muri izi ngirabuzimafatizo, uturemangingo tudasanzwe dukura tudashoboye kugenzurwa kandi tugakomeza igihe gikwiye. Amaherezo, uturemanfatizo twishyira hamwe tugakora ibibyimba bitari kanseri byitwa hamartomas.

Abahanga mu bya siyansi baracyakora ubushakashatsi ku mpinduka mu ngirabuzimafatizo zongera ibyago byo kurwara iyi kanseri, ari zo ngirabuzimafatizo zijyanye na Cowden syndrome. Bamwe mu bantu bafite Cowden syndrome nta mpinduka mu ngirabuzimafatizo ya `PTEN` bafite. Mu bantu bake, impinduka zabonetse mu zindi ngirabuzimafatizo, nka `PIK3CA/AKT1`, `SDHB-D`, `KLLN` na `SEC23B`. Abashakashatsi mu by'ubuvuzi bakomeje kubisuzuma.

Ibi byahererekanyijwe bite mu bisekuruza?

Abantu barwaye indwara ya Cowden bakura iyi ndwara mu buryo bwa "autosomal dominant pattern." Ibi bivuze ko ukura gene isanzwe ivuye ku babyeyi bawe bavukanye, na gene yahinduwe ivuye ku wundi mubyeyi. Ibi bivuze ko buri mwana afite amahirwe angana na 50% yo kuragwa gene yahinduwe.

Ni ibihe bintu bishobora gutera indwara ya Cowden Syndrome?

Ikintu kimwe rukumbi gikomeye cyagaragaye kugeza ubu ni amateka y'umuryango . Ibi bivuze ko niba hari umuntu wo mu muryango wawe ufite indwara ya Cowden, nawe ufite amahirwe menshi yo kuyirwara.

Ni izihe ngorane zishobora guterwa n'iyi ndwara?

Niba urwaye indwara ya Cowden syndrome, uba ufite ibyago byinshi byo kurwara kanseri imwe n'imwe. Nanone, ushobora kurwara kanseri ukiri muto , cyangwa kanseri zirenze imwe mu buzima bwawe.Bishobora kubaho mu bihe bitandukanye, bityo rero ni ngombwa kuganira na muganga wawe ku byerekeye igihe n'inshuro ugomba kwipimisha kanseri.

Ni gute abaganga basuzuma indwara ya Cowden Syndrome?

Indwara ya Cowden ni indwara ikomeye ifite ibimenyetso byinshi n'ibindi bijyana nayo. Nubwo waba ufite kimwe cyangwa byinshi muri ibi bimenyetso, ntabwo bivuze ko ufite indwara ya Cowden.

Kugira ngo bapime indwara ya Cowden, abaganga bagereranya indwara yawe n'ibipimo by'ubuvuzi byakozwe n'abaganga b'inzobere mu ndwara za kanseri bavukanye. Muri ubu buryo, indwara yawe ihuzwa n'ibipimo by'ingenzi n'ibipimo byoroheje . Usuzumwa indwara ya Cowden iyo ufite ibipimo byihariye.

Abaganga bashobora gukeka ko ufite indwara ya Cowden iyo:

• Uretse `macrocephaly` (umutwe munini), hari ibintu bitatu by'ingenzi bigenderwaho .
• Kugira igipimo kimwe cy'ingenzi cyangwa ibipimo bitatu byoroheje .
• Kugira ibipimo bine byoroheje .
• Umwe mu bavandimwe bawe afite indwara ya Cowden cyangwa indi ndwara ifitanye isano nka Bannayan-Riley-Ruvalcaba syndrome (BRRS).

Ibipimo ngenderwaho by'indwara ya Cowden

Dore bimwe mu bintu by'ingenzi n'ibito abaganga bashingiraho:

Ibipimo by'ingenzi:

• Kanseri y'ibere
• Kanseri y'inkondo y'umura
• Kanseri ya tiroyide yo mu magufwa
• Kugira hamartoma nyinshi mu nzira y'igifu (GI)
• Macrosefali - (umuzenguruko w'umutwe urenze agaciro runaka)
• Kuba hari utudomo twijimye (macules afite ibara) ku gitsina cy'umugabo
• Iyo agace k'uruhu gafashwe kagasuzumwa (biopsied), kagaragaza ibimenyetso bya 'trichilemmoma'
• Kugira uruhu rwinshi rwabyimbye (palmoplantar keratosis) ku biganza no ku birenge
• Kugira ibibyimba byinshi bisa n'ibibyimba (`papillomatosis`) mu kanwa (mucosal yo mu kanwa)
• Uduheri twinshi tumeze nk'uduheri (`papules`) ku ruhu rwo mu maso (`cutaneous facial`)

Ibipimo byoroheje:

• Kanseri y'umura munini
• Akanthose ya glycogen yo mu nda (iyi ni indwara yihariye ibaho mu muhogo)
• Indwara ya Autism spectrum
• Ubumuga mu myigire
• Kanseri ya tiroyide yo mu bwoko bwa papillary
• Ibibazo bya tiroyide (urugero: goiter, adenomas)
• Kanseri y'impyiko
• Ibibyimba by'ibinure (`Lipomas`)
• Kugira `hamartoma` imwe mu buryo bw'igogora
• Ibinure byinshi mu mabya (`Testicular lipomatosis`)

Niba umuganga wawe atekereza ko ushobora kuba urwaye indwara ya Cowden, azabaza amateka y'umuryango wawe kandi ashobora no gutegeka ko bapima imiterere y'uturemangingo kugira ngo barebe niba ufite imiterere y'uturemangingo.

Wakora iki niba utekereza ko ufite iyi ndwara?

Niba ufite ibi bimenyetso, ni ngombwa kubonana n'inzobere mu by'imiterere y'umubiri kugira ngo bakugire inama . Hanyuma bashobora gufata icyemezo niba ukeneye gukora ibintu nko gupima imiterere y'umubiri ya PTEN. Bashobora kandi kukwereka umujyanama mu by'imiterere y'umubiri . Umujyanama mu by'imiterere y'umubiri ashobora kugufasha gusobanukirwa uburyo indwara z'imiterere y'umubiri nk'impinduka za PTEN zishobora kukugiraho ingaruka. Bashobora kandi gusobanura ibyavuye mu gupima imiterere y'umubiri n'ibipimo bya kanseri ushobora gukenera niba ufite PTEN hamartoma tumor syndrome (PHTS). Kubera ko Cowden syndrome ari indwara idakunze kugaragara, ni byiza gushaka itsinda cyangwa ikigo cyihariye muri PHTS na Cowden syndrome.

Ni gute abaganga bavura indwara ya Cowden Syndrome?

Indwara ya Cowden ni indwara iterwa n'indwara zitandukanye, harimo n'ibibazo by'uruhu na kanseri. Akenshi, abantu bamenya ko bafite indwara ya Cowden iyo barimo kuvurwa indi ndwara ifitanye isano n'iyo ndwara.

Ariko, ni ngombwa ko abantu barwaye indwara ya Cowden syndrome, ariko bakaba badafite kanseri ubu , bapimwa kanseri hakiri kare . Dore ingero nke:

• Ku ndwara ya kanseri y'ibere: Gusuzuma amabere buri mwaka guhera ku myaka 30. Gusuzuma amabere hakoreshejwe ikoranabuhanga rya magnetic resonance imaging (MRI) bishobora no kubazwa abafite amabere manini.
• Ku ndwara ya kanseri ya tiroyide: Ultrasound ya tiroyide buri mwaka itangira ku myaka 7. Ariko, niba ufite ibimenyetso (urugero: ikibyimba cya tiroyide, kugorwa no kumira), ushobora gukenera gukora ibi bizamini hakiri kare.

Mu buryo nk'ubwo, muganga wawe ashobora kandi kukugira inama yo gupima izindi kanseri (urugero: kanseri y'umura, impyiko, kanseri y'amara) buri gihe, bitewe n'imimerere yawe bwite.

Ni iki wakwitega mu gihe ubana n'iki kibazo?

Niba ufite indwara ya Cowden, umujyanama wawe mu by’imiterere y’umubiri azagufasha gusobanukirwa ibyavuye mu isuzuma ryawe ry’imiterere y’umubiri. Niba isuzuma ryawe ry’imiterere y’umubiri rigaragaje ko ufite indwara ya PTEN hamartoma tumor syndrome (PHTS), bazagusobanurira kandi ibizamini bya kanseri ukeneye. Ushobora kuba ufite imyaka mike ugereranyije n’umuntu usanzwe .Ushobora gutangira kwipimisha kanseri. Ariko, iyo ugiye kwipimisha buri gihe, ushobora kubona kanseri mbere yuko ugaragaza ibimenyetso byayo.

Icyizere cy'ubuzima bw'abantu barwaye indwara ya Cowden ni ikihe?

Imyaka yo kubaho urwaye indwara ya Cowden iterwa n’imimerere yawe bwite. Urugero, niba usanzwe urwaye kanseri y’ibere ukiri muto kandi ikaba yarakwirakwiriye, igihe cyo kubaho gishobora kuba gito ugereranije n’umuntu wasanzwe arwaye kanseri hakiri kare akavurwa. Ariko, gupimwa kanseri byagusabye bishobora kugufasha kwirinda kanseri, cyangwa nibura kuyifata hakiri kare igihe ishobora kuvurwa.

Nikwiyitaho nte? / Wiyitaho ute?

Niba ufite indwara ya Cowden, ni ngombwa ko ukorerwa isuzuma rya kanseri buri gihe rishobora kugaragaza kanseri mbere yuko ugaragaza ibimenyetso. Baza muganga wawe niba hari ibimenyetso byihariye ugomba kwitondera bishobora kuba kanseri. Niba ufite indwara ya Cowden, baza umujyanama wawe w’uturemangingo niba n’abandi bagize umuryango wawe bagomba gupimwa indwara za kanseri.

Ese nkwiye kujya kwa muganga? / Ese nkwiye kujya kwa muganga?

Yego rwose. Indwara ya Cowden, cyane cyane iyo usanzwe ufite "germline PTEN mutation" cyangwa "PTEN hamartoma tumor syndrome (PHTS)," ifitanye isano n'ubwoko bwinshi bwa kanseri. Itsinda ry'abaganga bawe rizakurikirana hafi ubuzima bwawe muri rusange n'ibyavuye mu bipimo bya kanseri buri gihe.

Ni ibihe bibazo nkwiye kubaza muganga wanjye? / Ni ibihe bibazo nkwiye kubaza muganga wawe?

Ni byiza kubaza ibibazo nk'ibi mugihe ugiye kwa muganga wawe:

• "Narwaye ubwoko bumwe bwa kanseri kubera iyi ndwara. Ese birashoboka ko narwara ubundi bwoko bwa kanseri?"
• "Ibipimo by'uturemangingo bigaragaza ko mfite gene ya `PTEN` yahinduwe. Ese abandi bo mu muryango wanjye bagomba gupimwa iyi gene?"
• "Ese iyi ndwara ishobora kugira ingaruka ku bana mfite mu gihe kizaza?"
• "Mfite indwara ya Cowden syndrome, ariko nta `PTEN` mfite. None se ni izihe mpinduka zindi mu ngirabuzimafatizo zishobora gutera ibi?"
• "Ibipimo by'uturemangingo bigaragaza ko mfite gene yahindutse itera indwara ya Cowden. Ese ibyo bizantera kanseri?"

Indwara ya Cowden ni indwara idakunze kugaragara, ikwirakwizwa ku bantu kandi igoye kuyisuzuma. Ni byiza kureba inzobere mu by’imiterere y’umubiri kugira ngo umenye neza niba ufite PTEN hamartoma tumor syndrome (PHTS). Abaganga bawe bashobora gutegura gahunda yo kuvura ijyanye n’uburwayi bwawe. Hari igihe, iyo ibizamini by’imiterere y’umubiri bitabonye PTEN mutation, ushobora gukenera ibizamini bitandukanye kugira ngo umenye izindi ndwara. Umujyanama wawe mu by’imiterere y’umubiri azagufasha kumenya icyo wakora nyuma yaho.

Bishobora kuba igitekerezo giteye ubwoba kumenya ko hari ikibazo kiri mu mubiri wawe, ariko ntuzi icyo ari cyo cyangwa icyo wakora kuri cyo. Numenya ko urwaye indwara ya Cowden, ugomba kubaho uzi ko ushobora kurwara kanseri y’ubwoko butandukanye ubuzima bwawe bwose. Nubwo uzi ko hari ibizamini bishobora kuvumbura kanseri mbere yuko ibimenyetso bigaragara, igitekerezo gishobora gutera ubwoba cyane. Niba ufite iyi ndwara, itsinda ry’abaganga rizakomeza gukurikirana ubuzima bwawe n’ibisubizo by’ibizamini. Bazakora ibishoboka byose kugira ngo bavure kanseri mbere yuko ikwirakwira. Rero, ni ngombwa kugira ubutwari, gukurikiza inama za muganga wawe, no kwisuzumisha buri gihe.

Muri make byose (Ubutumwa bwo kujyana mu rugo)

Sawa, reka turebe bimwe mu bintu by'ingenzi ugomba kwibuka mu byo twavuzeho:

• Indwara ya Cowden Syndrome ni indwara idakunze kugaragara mu buryo bw’uturemangingo ituma mu mubiri havuka utubyimba tutari kanseri (hamartomas), ndetse n’ibyago byo kurwara ubwoko bumwe na bumwe bwa kanseri (cyane cyane kanseri y’ibere, kanseri ya tiroyide, na kanseri y’umura).
• Iyi si kanseri itaziguye, ariko ni ingenzi cyane kwipimisha buri gihe bitewe n'ibyago byo kurwara kanseri .
• Ibimenyetso biratandukanye. Iby'ingenzi ni umutwe munini (macrocephaly) n'utubyimba twihariye ku ruhu no mu kanwa. Ibi bimenyetso byonyine ntibigaragaza ko indwara ihari, kandi isuzuma rikorwa hashingiwe ku bipimo by'ubuvuzi.
• Iyi ndwara ikunze kujyana n'impinduka mu miterere ya gene `PTEN`. Gupima imiterere y'uturemangingo no gutanga inama ku imiterere y'uturemangingo ni ingenzi cyane muri ibi.
• Ubuvuzi bwibanda cyane cyane ku gusuzuma kanseri hakiri kare no kuyivura . Kubwibyo, jya ku isuzuma (mammogram, ultrasound, nibindi) ryatanzwe na muganga wawe ku gihe.
• Niba ufite gushidikanya kuri iyi ndwara, cyangwa niba hari umuntu wo mu muryango wawe ufite ibi bimenyetso, ntugatinye kujya kwa muganga no gusaba inama. Ni ngombwa cyane kubimenyeshwa no gufata ingamba hakiri kare.

Wibuke ko kubana n'iki kibazo bishobora kugorana, ariko uramutse ukurikiranwe neza n'abaganga kandi ugahabwa ubufasha, ushobora kubyihanganira. Ntabwo uri wenyine.

Indwara za Cowden , Indwara z'uturemangingo, Ingaruka za kanseri, Ingirabuzimafatizo za PTEN, Ibibyimba by'uruhu, Hematoma, Indwara z'uruhererekane, Gupima kanseri