Ese urimo kugira ibibyimba bidasanzwe ku mubiri wawe? Ibi bishobora kuba ari indwara ya PTEN Hamartoma Tumor Syndrome (PHTS)!

Ese wigeze ubona ibibyimba bidasanzwe ku mubiri wawe cyangwa ku muntu wo mu muryango wawe? Bimwe muri byo bishobora gusa nkaho nta kintu na kimwe giteye impungenge, ariko rimwe na rimwe bishobora kuba ibimenyetso by'uburwayi. Uyu munsi, tugiye kuvuga kuri imwe muri izo ndwara ugomba guhangayikishwa nazo.

Indwara ya PTEN Hematoma Tumor Syndrome (PHTS) ni iki?

Mu magambo make, PTEN Hamartoma Tumor Syndrome (PHTS) ni itsinda ry'indwara ziterwa n'impinduka, cyangwa impinduka, muri gene yitwa 'PTEN' mu mubiri wacu. Noneho ushobora kuba urimo kwibaza icyo gene ya 'PTEN' ari cyo. Tekereza ko hari umuntu mu mubiri wacu ugenzura imikurire y'uturemangingo, ukora nk'umurinzi. Uko ni ko iyi gene ya 'PTEN' imeze. Iyi ni gene igabanya ikibyimba . Icyo ikora ni ukurema 'enzyme' ihagarika ingirabuzimafatizo zacu gukura mu buryo butunguranye no gukora ibibyimba.

Rero, iyo habayeho impinduka, cyangwa inenge, muri iyi gene ya 'PTEN', kugenzura gukura kw'uturemangingo ntibikora neza. Hanyuma uturemangingo dutangira gukura mu buryo butunguranye, kandi ibintu byitwa 'hamartomas' bishobora kuvuka. Hamartoma ni ikura ritari kanseri (`ryin`) , ritari riteje akaga, rimeze nk'iry'ibibyimba. Niba ufite PHTS, uba uri mu kaga ko kurwara ubwo bwoko bwa hematoma n'izindi kanseri zitari kanseri. Nanone, rimwe na rimwe hari ibyago byo kurwara kanseri (`malignant`) , ibibyimba, bivuze kanseri.

Ni ubuhe bwoko bw'indwara ziterwa n'indwara zigaragara mu cyiciro cya PHTS?

Iki cyiciro kinini cya PHTS kirimo indwara ebyiri z'ingenzi: Cowden syndrome na Bannayan-Riley-Ruvalcaba syndrome (BRRS) . Abaganga babonaga izi ndwara ebyiri nk'indwara zitandukanye, ariko ubu zombi zifitanye isano n'impinduka mu ngirabuzimafatizo ya PTEN, bityo zishyizwe mu itsinda rimwe, PHTS.

Ingaruka ku buzima umuntu urwaye PHTS ahura nazo, zaba Cowden syndrome cyangwa BRRS, zirasa cyane. Hari igihe umuntu urwaye PHTS ashobora kugira ibimenyetso bijyanye n'izo ndwara zombi mu buzima bwe.

• Indwara ya Cowden: Iyi ndwara ikunze kugaragara cyane mu bantu bakuru. Aba bantu bashobora kurwara ibibyimba bibi ndetse n'ibibyimba bibi. Ibi bibyimba bikunze kugaragara mu ibere, mu mura, mu mvubura ya tiroyide, mu nzira y'igifu, mu ruhu, mu rurimi no mu ishinya.
• Indwara ya Bannayan-Riley-Ruvalcaba (BRRS): Iyi ndwara yibasira cyane abana bato. Abana bafite BRRS bashobora kurwara ibibyimba by'uruhu n'ibisebe byo mu nda. Bashobora kandi kugira ibibazo byo gukura .

Ni ibihe bimenyetso bya PHTS?

PHTS ishobora gutuma hematoma zivuka mu ngingo zitandukanye z'umubiri wawe. Ibimenyetso nyabyo ubona bizatandukana bitewe n'ubwoko bwa PHTS ufite. Muri rusange, niba ufite PHTS, ushobora kugira kimwe cyangwa byinshi muri ibi bikurikira:

Uduheri n'ibibyimba ku ruhu

• Udusimba duto dusa n'aho tumanitse ku ruhu (utumenyetso tw'uruhu cyangwa acrochordons) .
• Uduce twijimye kandi duto ku biganza no ku birenge (palmoplantar keratoses ).
• Utubyimba duto tworoshye mu maso (trichilemmomas ).
• Utubyimba tw’uruhu, twazamutse ( papillomas ).
• Ibibyimba by'ibinure ( lipoma ) bikura munsi y'uruhu.
• Udusimba dukomeye tumeze nk'ishinya mu kanwa (fibroma zo mu kanwa ).
• Imitsi y'amaraso igaragara ku ruhu ( hemangiomas n'ibibara by'amavuko ).
• Udukoko ku gitsina cy'umugabo (`udukoko ku gitsina cyawe` ).

Ubwoko bw'ibibyimba bitari kanseri (`Benign`)

• Utubyimba twa tiroyide ( utubyimba muri tiroyide).
• Kwaguka kwa tiroyide hamwe no kurema utudomo twinshi (goiter nyinshi ).
• Ibibyimba mu mura ( fibroids zo mu mura ).
• Fibroadenomas zo mu ibere .
• Impinduka mu ngingo zoroshye z'amabere ( amabere ya fibrocystic ).
• Udukoko duto twibasira igice cyo hejuru cy'inzira y'igogora n'amara manini (polyps zo mu mara ).

Ibibazo by'ubwonko n'iterambere

• Kugira umutwe munini kuruta ibisanzwe (macrocephaly ).
• Kugira umutwe muremure cyane ( dolichocephaly ).
• Gutinda mu iterambere .
• Indwara ya Autism spectrum (indwara ya Autism spectrum ).

Ni iki gitera PHTS?

Nkuko twabiganiriyeho mbere, impamvu nyamukuru ya PHTS ni impinduka mu miterere ya gene ya `PTEN`. Iyi gene ya `PTEN` niyo ishinzwe kurekura `enzyme` imenyesha uturemangingo ko duhagarika kwigabanyamo ibice ndetse inatanga ikimenyetso cy'igihe uturemangingo tugomba gupfa (`apoptosis`). Ibi bituma habaho umwanya w'uturemangingo dushya kandi dufite ubuzima bwiza.

Muri PHTS, gene ya PTEN ntikora neza. Ingaruka zabyo ni uko uturemangingo dushobora gukomeza kwigabanya no gukura mu buryo butunguranye. Amaherezo, utwo turemangingo dushobora gukura hamwe tugakora uturemangingo. Nubwo utwo turemangingo akenshi tuba tudafite ingaruka mbi, rimwe na rimwe dushobora kuba kanseri.

PHTS ni indwara y’uturemangingo ihererekanywa mu bisekuruza.Ibyo bivuze ko abana bashobora kuragwa iyi gene yahinduwe n'ababyeyi babo.

Ni gute PHTS ikomoka mu muryango?

Uragwa PHTS mu buryo bwa "autosomal dominant" . Uzi icyo bivuze? Twese dufite kopi ebyiri za gene ya "PTEN" mu mibiri yacu. Imwe ikomoka kuri mama wacu, indi ikomoka kuri data. Ku bijyanye na PHTS, uragwa kopi imwe nzima ya gene ya "PTEN" n'ikopi imwe ifite "mutated". Nubwo waba ufite kopi imwe nzima, gene ya "PTEN" yahinduwe itera ibibazo bijyanye na PHTS. Ibi bivuze ko nubwo umwe mu babyeyi ari we ufite gene yahinduwe, hari amahirwe 50% ko umwana we azayiragwa.

Hari igihe utaragwa gene ya PTEN yahinduwe n'ababyeyi bawe. Ahubwo, iyo gene ishobora kubaho mbere yuko uvuka, waba uri urusoro cyangwa uri uruhinja .

Uko wakira iyi mihindukire uko byagenda kose, niba uyifite, umwana wawe afite amahirwe angana na 50% yo kuzungura iyo mihindukire ya gene.

Ni izihe ngaruka zo kurwara kanseri zijyanye na PHTS?

Niba ufite indwara ya Cowden syndrome, ufite ibyago byinshi byo kurwara kanseri imwe n'imwe kurusha abaturage muri rusange. Kubwibyo, ugomba gupimwa kanseri mu buzima bwawe bwose kugira ngo ucunge iyi ndwara. Nubwo ibi bizamini bidashobora gukumira kanseri, iyo bigaragaye hakiri kare, ubuvuzi bushobora gutangira hakiri kare kandi ibisubizo bikaba byiza kurushaho.

Ubwoko bwa kanseri ushobora kuba ufite ibyago byinshi byo kurwara ni ubu:

• Kanseri y'ibere
• Kanseri ya tiroyide
• Kanseri y'impyiko
• Kanseri yo mu mura
• Kanseri y'inkondo y'umura
• Melanoma, kanseri y'uruhu

Ubushakashatsi bukomeje gukorwa ku byago bya kanseri bifitanye isano na BRRS.

Ni gute PHTS ipimwa?

Muganga wawe azagusuzuma niba ufite PHTS niba asanze hari impinduka muri gene ya PTEN. Uzakenera gupimwa imiterere y'uturemangingo kugira ngo arebe niba ufite iyi mpinduka. Ibi bikunze gukorwa binyuze mu gupima amaraso .

Hari amabwiriza agenga isuzuma ry’uturemangingo mu gusuzuma indwara ya Cowden (urugero, aturuka ku rubuga rw’igihugu rushinzwe kurwanya kanseri n’ivuriro rya Cleveland). Aya mabwiriza ahora avugururwa hashingiwe ku bushakashatsi bushya. Ishyirahamwe Mpuzamahanga rya Cowden Consortium ryashyizeho kandi ibipimo ngenderwaho mu gusuzuma indwara ya Cowden. Muganga wawe ni we uzagena niba ukeneye iki kizamini hashingiwe ku bimenyetso byawe, amateka y’umuryango wawe ya kanseri, ndetse niba ufite PTEN mutation.

Nubwo nta mabwiriza asanzwe yo gusuzuma BRRS, muganga wawe ashobora kukugira inama yo gusuzuma indwara ya Cowden.

Igikuru ni uko niba wemejwe ko ufite iyi mpinduka, ni ngombwa cyane ko n'abandi bo mu muryango wawe nabo bapimishwa iki kizamini.

Ese PHTS ishobora gukira burundu?

Ikibabaje ni uko nta muti uhari wa PHTS. Ariko, abahanga mu bya siyansi bakomeje gukora ubushakashatsi ku buryo bwo kuvura kanseri bugira ingaruka nziza ku ndwara ya PTEN.

Ni gute PHTS ivurwa kandi igacungwa?

Niba ufite PHTS, ushobora kugira itsinda ry'abaganga bakwitaho. Bazagufasha guhangana n'ibintu byose kuva ku bimenyetso byawe kugeza ku mikurire idasanzwe kugeza ku gutinda gukura. Bazasuzuma kandi ibyago byo kwandura kanseri no gufata icyemezo cy'inshuro ugomba kwipimisha kanseri.

Uburyo bwo kuvura

Nubwo nta mabwiriza yihariye agenga kuvura ibibyimba, byaba ibya kanseri cyangwa ibitari kanseri, hamwe n’impinduka za PTEN, ubuvuzi buzaterwa n’ibimenyetso byawe. Ubu buryo bwo kuvura bushobora kuba burimo:

• Kubagwa: Gukuraho ingingo zidasanzwe. Mbere yo kubagwa, muganga ashobora gufata urugero rw'ingingo kugira ngo arebe niba nta tunyangingo twa kanseri ( biopsy ).
• Cryotherapy: Gukoresha ubukonje bukabije kugira ngo usenye ingingo zidasanzwe.
• Gukoresha laser ablation: Gukoresha ubushyuhe bwinshi mu gusenya ingingo zidasanzwe.
• Amavuta yo kwisiga akoreshwa mu kuvura indwara: Amavuta yihariye agenewe gusenya ibibyimba by'uruhu.

Ibizamini bya kanseri

Niba ufite indwara ya Cowden syndrome, uzakenera gukurikiranwa buri gihe, ubuzima bwawe bwose kugira ngo urebe ko hari indwara ziterwa na kanseri cyangwa izitari kanseri. Ibi bivuze ko niba hari ikibazo kivutse, gishobora gufatwa hakiri kare, mu gihe cyiza cyo kuvura. Nubwo nta mabwiriza asanzwe yo gukurikirana abantu barwaye BRRS, muganga wawe ashobora kukugira inama yo gupima abantu nk'uko byakozwe kuri iyo ndwara ya Cowden syndrome.

Ubu buryo bwo gupima bushobora kuba bukubiyemo ibi bikurikira, bikunze gukorwa:

• Mammogram: Ikizamini gikoresha X-ray nkeya kugira ngo gifate amafoto y'imitsi y'ibere.
• MRI y'ibere: Ikizamini gikoresha rukuruzi nini n'imiraba ya radiyo kugira ngo gifate amafoto y'ingingo z'ibere.
• Ultrasound: Ikizamini gikoresha amajwi mu gufata amafoto y'imitsi y'ibere.
• Colonoscopies: Ikizamini gisuzuma imbere mu mara manini gikoresheje umuyoboro wa kamera (scope). Uyu muyoboro ushobora kandi gukoreshwa mu gukuraho polyps. Ibi bishobora guhagarika gukura mbere yuko biba kanseri.
• Endoskopi ('Endoskopi'):Ikizamini aho umuyoboro (scope) ufite kamera ifatanye ushyirwamo kugira ngo harebwe umwobo, igifu, n'igice cyo hejuru cy'amara mato (duodenum).

Bitewe n'ibisubizo by'ibizamini, hashobora kuba ngombwa ko hakorwa isuzuma rya biopsy kugira ngo hemezwe niba uturemangingo tudasanzwe dufite uturemangingo twa kanseri.

Ese PHTS ishobora kwirindwa?

Nta buryo bwo kwirinda PHTS buhari. Ariko, gupima kanseri buri gihe bishobora gufasha kumenya kanseri hakiri kare, igihe ishobora kuvurwa neza. Kubwibyo, ni ngombwa kuyipima nk'uko muganga yabigutegetse.

Ni ubuhe buryo bw'ejo hazaza umuntu ufite PHTS yakwitega?

Ahazaza hawe haterwa n'ibintu byinshi, harimo ibimenyetso byawe n'ubuzima bwawe muri rusange. Niba ufite indwara ya PHTS/Cowden syndrome, ufite ibyago byinshi byo kurwara kanseri imwe n'imwe. Niyo mpamvu gusuzuma kanseri ari ingenzi cyane. Gufata kanseri no kuyivura hakiri kare ni bwo buryo bwiza bwo kongera amahirwe yo gukira (prognosis).

Ni ryari ngomba kujya kwa muganga?

Kurikiza amabwiriza ya muganga wawe yerekeye inshuro ugomba kwisuzumisha kanseri. Ni ngombwa kandi kumenya ibimenyetso by'umuburo bya kanseri. Baza muganga wawe ibimenyetso ugomba kumenya.

Kumenya ko wowe cyangwa umwana wawe afite indwara nka PHTS bishobora kugorana cyane. Ni indwara isaba kwitabwaho buri gihe. Ishobora gutera abantu benshi agahinda. Ariko, gusuzuma witonze bishobora kugufasha cyane mu kurokora cyangwa kongera igihe cyo kubaho niba urwaye kanseri. Niba usanzwe urwaye PHTS, menya neza ingaruka z'ubuzima bwawe, uburyo itsinda ry'abaganga rizakurikirana ubuzima bwawe, n'uburyo gahunda yawe yo kuvura ishobora kunoza ubuzima bwawe bw'igihe kirekire.

Ni gute gene ya PTEN itera kanseri?

Nkuko twabiganiriyeho mbere, impinduka mu ngirabuzimafatizo ya PTEN ishobora gutuma uturemangingo dukura mu buryo budasubirwaho kandi tukarema ibibyimba. Nubwo PHTS ikunze kujyana n'ibibyimba bitari kanseri byitwa hematoma, uku gukura kw'uturemangingo kudasubirwaho bishobora no gutera ibibyimba bya kanseri. Ubwoko bwombi bw'ibibyimba buterwa no kwigabanyamo ibice vuba. Nubwo ibibyimba bitari kanseri biba ahantu runaka, ibibyimba bya kanseri bishobora gukwirakwira mu mubiri wose (metastasize) . Iyo bigenze bityo, uturemangingo twa kanseri twangiza ingingo nzima.

Ingingo ngufi zo kwibuka

Sawa, reka dusubiremo bimwe mu bintu by'ingenzi tugomba kwibuka kuri PHTS twavuzeho:

• PHTS ni indwara iterwa n'impinduka mu ngirabuzimafatizo yitwa `PTEN`. Iyi ngirabuzimafatizo ifasha mu kugenzura imikurire y'uturemangingo twacu.
• Iyi ndwara ishobora gutuma ibibyimba bitari kanseri (hematoma) n'ibindi bimera bivuka mu bice bitandukanye by'umubiri.
• Abantu barwaye PHTS, cyane cyane abafite indwara ya Cowden syndrome, bafite ibyago byinshi byo kurwara ubwoko bumwe na bumwe bwa kanseri (nka kanseri y'ibere, kanseri ya tiroyide, impyiko, kanseri y'umura n'iy'amara).
• Iyi ni indwara ishobora kuragwa . Iyo uyifite, abana bawe bafite amahirwe angana na 50% yo kuyiragwa.
• PHTS ntabwo ishobora gukira burundu muri iki gihe. Ariko, ibimenyetso birashobora kugenzurwa kandi ibyago byo kurwara kanseri bikaba byakemurwa.
• Gusuzuma kanseri buri gihe bishobora kurokora ubuzima, kuko kanseri ishobora kuvurwa no gukira iyo igaragaye hakiri kare.
• Niba wowe cyangwa umuntu wo mu muryango wawe afite ibi bimenyetso, menya neza ko wagisha inama kwa muganga. Gupima imiterere y'uturemangingo no gukurikirana neza abaganga ni ingenzi cyane.

Ntugatinye, ariko icy'ingenzi ni ukumenyeshwa amakuru. Niba ufite ibindi bibazo, ntugatinye kuvugana na muganga wawe.

` PTEN, Hematoma, Ikibyimba, Indwara, Ihindagurika ry'uturemangingo, Kanseri, Indwara ya Cowden, BRRS