Hari umuntu wo mu muryango wawe ufite ibi bimenyetso? Reka tuganire kuri Bannayan-Riley-Ruvalcaba Syndrome (BRRS)

Uyu munsi tugiye kuvuga ku ndwara idasanzwe ariko ikomeye cyane. Yitwa Banyan-Riley-Ruvalcaba Syndrome, cyangwa "BRRS" mu magambo ahinnye. Ni indwara iterwa n'imiterere y'uturemangingo. Ni ukuvuga ko iterwa n'impinduka nto mu turemangingo mu mubiri wacu. Iyi ndwara yongera ibyago byo kurwara ibibyimba bidasanzwe (``ibibyimba'') mu bice bitandukanye by'umubiri. Ntugahangayike, reka tubisobanukirwe mu buryo bworoshye.

Indwara ya Banyan-Riley-Ruvalcaba (BRRS) ni iki?

Mu magambo make, `(BRRS)` ni indwara iterwa n'uturemangingo . Iri mu itsinda ry'indwara zitwa `(PTEN hamartoma tumor syndrome (PHTS))`. Ushobora kuba warumvise `(Cowden syndrome)`, nayo iri muri iki cyiciro `(PHTS)`.

Iyi ndwara ya `(BRRS)` ikunze guterwa n'impinduka, cyangwa impinduka , muri gene yitwa `(PTEN)` mu mubiri wacu. Iyi gene ya `(PTEN)` igenzura ikura ry'uturemangingo twacu, cyane cyane ikorwa rya poroteyine zigenzura ikura ry'uturemangingo. Rero, kubera ko iyi gene ya `(PTEN)` mu muntu ufite `(BRRS)` idakora neza, uturemangingo twabo dushobora gukura mu buryo butunguranye. Ibi byongera ibyago byo kurwara hamartomas , kimwe n'izindi kanseri za kanseri n'izitari kanseri. Byongeye kandi, ibyago byo kurwara ubwoko butandukanye bwa kanseri nabyo biriyongera.

Byongeye kandi, hashobora kubaho kwiyongera kw'ibiro mu gihe cyo kuvuka, ingano y'umutwe munini urenze igipimo rusange (macrocephaly), imyanya ndangagitsina y'abagabo, ndetse n'ibindi bibazo bitandukanye by'iterambere n'ubwenge.

Ni ayahe mazina yandi akoreshwa kuri `(BRRS)`?

Iyi ndwara yitwa andi mazina menshi. Ushobora kuba warumvise rimwe muri aya mazina:

• Indwara ya Riley-Smith
• Indwara ya Ruvalcaba-Myhre
• Indwara ya Ruvalcaba-Myhre-Smith
• Indwara ya Bannayan-Zonana

Iyi ndwara ya `(BRRS)` ikunze kugaragara gute?

Biragoye kuvuga neza uburyo iyi ndwara ikunze kugaragara, kuko ibimenyetso biratandukanye cyane bitewe n'umuntu ku giti cye. Bimwe mu bimenyetso biragoye cyane. Ariko, abashakashatsi benshi bemeza ko iyi ari indwara idasanzwe .

Ni ibihe bimenyetso bya `(BRRS)`?

Ibimenyetso bya Bannayan-Riley-Ruvalcaba syndrome biratandukanye cyane. Hari abantu bashobora kugira ibimenyetso byinshi muri ibi, abandi bakaba bafite bike gusa. Reka turebe ibimenyetso by'ingenzi bishobora kugaragara:

• Kugira ibiro byinshi n'uburebure bwinshi mu gihe cyo kuvuka .
• Umutwe munini kuruta ibisanzwe (macrocephaly).
• Kubona utudomo (macules y’ibara) mu gice cy’igitsina cy’abahungu.
• Kutagira imitsi ihagije (hypotonia). Tekereza, iyo uteruye umwana, ingingo zigera ku ntoki.
• Guteza imbere ubuhanga bwo kuvuga no/cyangwa ubushobozi bwo gufata imitsiGutinda mu iterambere.
• Ibi bishobora kugira ingaruka ku bantu bagera kuri 50% bafite ubumuga bwo mu mutwe (BRRS).
• Indwara ya Autism spectrum (`(Autism spectrum disorder)`) - Byagaragaye ko abana bagera kuri 20% bafite autism bafite impinduka muri gene ya `(PTEN)`.
• Intege nke z'imitsi .
• Hamartoma ni indwara zidasanzwe ziterwa n'uturemangingo n'ingingo mu mara.
• Ingingo zigoramye cyane .
• Ibicurane bisa n'igicuri (`(ihungabana)`).
• Pectus excavatum - Iyi ni indwara aho hagati mu gituza haba hari igufwa ryinjiramo imbere.
• Indwara ya Scoliose .
• Acanthosis nigricans (`(Acanthosis nigricans)`) - Kwijima k'uruhu mu mipfundo y'umubiri no mu bice nko mu nkokora, mu ijosi, n'ibindi.
• Ibibyimba by'ibinure (lipoma) bikura munsi y'uruhu.
• Utubyimba tutari kanseri tugizwe n'ibinure n'imitsi y'amaraso (angiolipoma).
• Utudomo tumeze nk'udukoko tw'ivuka (hemangiomas) twibasira imitsi y'amaraso iri munsi y'uruhu.

Wibuke ko atari buri wese ufite ibi bintu byose. Hari abantu bashobora kuba bafite bike muri byo.

Ni izihe mpamvu za `(BRRS)`?

Hari impamvu ebyiri z'ingenzi zituma iyi ndwara ya ``(BRRS)`` iba:

1. Impinduka mu ngirabuzimafatizo yawe ya `(PTEN)`. (Iyi ni yo mpamvu ikunze kugaragara.)

2. Gusiba cyane ibintu bigize gene yawe byose cyangwa igice cyayo. (Ibi bibaho mu manza zigera kuri 10%.)

Nkuko twabiganiriyeho mbere, gene yawe ya PTEN ikora poroteyine igenzura ikura ry'ibibyimba. Iyo iyi gene ibuze cyangwa idakora neza, uturemangingo twawe dutangira kwigabanyamo ibice mu buryo butunguranye. Ibi bivamo hamartomas n'izindi kanseri za kanseri n'izitari kanseri.

Ariko, abahanga ntibaramenya neza uburyo impinduka mu ngirabuzimafatizo ya PTEN zitera ibindi bimenyetso bya BRRS, nko kurwara umutwe munini, indwara z’imitsi n’amagufwa, ndetse no gutinda mu mikurire no mu bwenge.

Ese `(BRRS)` iva ku gisekuru ijya ku kindi?

Yego, ababyeyi bashobora guha abana babo iki kibazo `(BRRS). Ibi byitwa `(autosomal dominant inheritance )`. Mu magambo make, niba umwe mu babyeyi afite kopi imwe ya `(PTEN)` yahinduwe, umwana wabo afite amahirwe ya 50% yo kurwara iki kibazo.

Ni gute wamenya `(BRRS)`?

Niba umuganga akeka ko ushobora kuba ufite BRRS, ashobora gutegeka ko hakorwa isuzuma ry’uturemangingo twa PTEN.Gupima imiterere y’uturemangingo birasabwa. Ibi bikubiyemo inzira yitwa sequencing ya gene. Ibi bivuze ko buri gice cya gene gisuzumwa kugira ngo harebwe niba hari impinduka cyangwa impinduka.

Iki kizamini cya `(PTEN)` ni ukuri cyane. Muganga wawe aramutse abonye impinduka mu ngirabuzimafatizo ya `(PTEN)`, ashobora kwemeza neza 100% ko ufite `(BRRS)`. Ariko, 60% by'abantu bafite ibimenyetso bya `(BRRS)` ni bo bonyine bafite impinduka mu ngirabuzimafatizo. Ibi bivuze ko hafi 40% by'abantu bafite ibimenyetso bya `(BRRS)` bashobora kuba bafite ibisubizo bisanzwe by'ibizamini. Niba ushishikajwe no gupimwa `(PTEN)`, vugana na muganga wawe.

`(BRRS)` ivurwa ite?

Nta buryo bwihariye bwo kuvura indwara ya ``(BRRS)``. Ahubwo, kuvura indwara ya Bannayan-Riley-Ruvalcaba bikubiyemo gucunga ibimenyetso n'ibimenyetso byihariye by'indwara yawe .

Abantu barwaye BRRS bagomba gupimwa ubwoko butandukanye bwa kanseri, baba bafite ibimenyetso cyangwa badafite. Abaganga basaba ko abantu basanzwe bafite PTEN gene mutation bagomba gukurikiza amabwiriza yo gusuzuma indwara ya Cowden syndrome. Ibi birimo gusuzuma izi kanseri:

• Kanseri y'ibere
• Kanseri yo mu mura
• Kanseri ya tiroyide
• Kanseri y'impyiko

Ubujyanama ku ngirabuzimafatizo burafasha cyane abantu barwaye BRRS. Abagize umuryango badafite ibimenyetso bya BRRS nabo bagomba gupimwa ngirabuzimafatizo ya PTEN kugira ngo barebe niba bagomba gukurikiza amabwiriza yo gusuzuma kanseri .

Amabwiriza yo Kwitegereza `(BRRS)`

Hari amabwiriza yihariye yo kugenzura buri bwoko bwa kanseri, harimo n'igihe cyo gutangira gupimwa. Si kanseri zose zitangira gupimwa icyarimwe no gusuzuma indwara - biterwa n'imyaka umuntu afite mu gihe cyo kuyisuzuma.

Ku bantu bari munsi y'imyaka 18 , abaganga bashobora kubagira inama:

• Isuzuma rya ultrasound rya tiroyide buri mwaka kuva ku myaka 7.
• Isuzuma ry'umubiri ngarukamwaka hamwe n'isuzuma ry'uruhu .
• Isuzuma ry'iterambere ry'imitsi .
• Ikizamini cya hemoglobine cya buri mwaka kirakenewe kugira ngo hamenywe hakiri kare.

Ese BRRS ishobora kwirindwa?

Oya, BRRS ntishobora kwirindwa. Ni indwara y’uturemangingo iterwa n’impinduka mu turemangingo. Abantu bafite BRRS bashobora guhabwa inama ku turemangingo. Ibi bishobora kubafasha gufata ibyemezo bisobanutse neza ku bijyanye n’ubuvuzi no kubyara abana.

Ni iki nakwitega mu gihe mfite `(BRRS)`?

Iteganyagihe ry’umuntu urwaye BRRS riratandukanye cyane bitewe n’umuntu ku giti cye. Hari abantu bashobora kugira ibimenyetso bike n’ibimenyetso bike - abandi bashobora kugira ibimenyetso bike cyangwa ntibagire na kimwe. Hari uburyo bwinshi bwo kuvura abantu bafite BRRS bushobora gufasha mu kunoza ubuzima bwabo muri rusange. Urugero, harimo ubuvuzi bw’umubiri n’ubuvuzi bwo kuvuga .

Nkuko byavuzwe mbere, abantu barwaye kanseri bagomba gupimwa buri gihe ubwoko butandukanye bwa kanseri. Baza muganga wawe igihe ugomba gutangira gupimwa n'inshuro ugomba kubafata.

Indwara ya Bannayan-Riley-Ruvalcaba n'igihe umuntu ategereje kubaho

Abashakashatsi ntibaramenya igihe abantu bafite BRRS bamara. Mu by’ukuri, nta gihamya igaragaza ko abantu bafite BRRS baba bafite igihe cyo kubaho gito. Ariko, abantu bafite BRRS baba bafite ibyago byinshi byo kurwara kanseri imwe n’imwe bakiri bato. Kubera iyo mpamvu, bamwe bashobora kubaho igihe gito bitewe na kanseri.

Ni ryari ngomba kubonana na muganga wanjye?

Niba abagize umuryango wawe wa hafi (urugero, abavandimwe, ababyeyi, cyangwa abana) bafite `(BRRS)`, ugomba kubaza muganga wawe ibijyanye no gupima `(PTEN)`. Gupima `(PTEN)` bishobora kumenya niba ufite `(PTEN)` mutation y'uturemangingo ndetse niba ukwiye gupimwa buri gihe kanseri zimwe na zimwe.

Niba wowe cyangwa umwana wawe musanzwe murwaye BRRS, muganga wawe azakorana namwe kugira ngo acunge ibimenyetso byanyu kandi arusheho kugira ubuzima bwiza. Bazakubwira kandi inshuro mugomba gupimwa kanseri.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

Niba wowe cyangwa uwo ukunda basanze ufite BRRS, dore ibibazo bimwe na bimwe ushobora kubaza muganga wawe:

• Ese hari ihinduka ry'uturemangingo `(PTEN)` rishobora kugaragara kuri njye cyangwa ku mwana wanjye?
• Ese hari ibimenyetso n'ibimenyetso bigaragara?
• Ese nkwiye gupimwa imiterere y'umubiri (genetic test)?
• Ese abagize umuryango wanjye ba hafi nabo bagomba gupimwa imiterere y'uturemangingo?
• Ibi bigira ingaruka zite ku kuboneza urubyaro?
• Ni ubuhe buryo bwo kuvura cyangwa bwo kuvura usaba?
• Ni kangahe nkwiye gupimwa kanseri?

Ubutumwa bwo kujyana mu rugo

Indwara ya Bannayan-Riley-Ruvalcaba (BRRS) ni indwara idakunze kugaragara mu buryo bw'uturemangingo iterwa n'impinduka mu ngirabuzimafatizo yawe ya PTEN. Ibimenyetso bishobora gutandukana cyane, kandi bishobora kuva ku buryo bworoheje kugeza ku bukomere. Nta buryo bwihariye bwo kuvura BRRS, ariko uburyo bw'ingenzi bwo kuvura ni ukurwanya ibimenyetso. Ni ngombwa ko abantu barwaye BRRS basuzumwa buri gihe ubwoko bumwe na bumwe bwa kanseri, harimo kanseri y'ibere, kanseri y'umura, kanseri ya tiroyide, n'impyiko.

Kuganira n'umujyanama cyangwa umukozi ushinzwe imibereho myiza y'abaturage bishobora gufasha cyane mu guhangana n'amarangamutima aterwa no kwisuzumisha indwara nk'iyi. Ushobora kandi kwinjira mu itsinda ry'ubufasha ryo mu gace utuyemo cyangwa kuri interineti kugira ngo uhure n'abandi bahuye n'ibintu nk'ibyo. Ntugahangayike, nturi wenyine. Uramutse ufite inama n'ubufasha bikwiye by'abaganga, ushobora kwihanganira iyi ndwara no kubaho ubuzima bwiza.

Indwara ya Bannayan -Riley-Ruvalcaba, BRRS, gene ya PTEN, hamartoma, indwara y’uturemangingo, ibyago bya kanseri, macrocephaly, gutinda mu mikurire, indwara y’uturemangingo, ibyago bya kanseri, gutinda mu mikurire