Ese umwana wawe yumva ananiwe kandi ananiwe buri gihe? Ese asa n'uwanduye? Cyangwa hari impinduka ku mubiri zibaho kuva akivuka? Ahari impamvu y'ibi bintu ni indwara idakunze kugaragara yitwa Fanconi Anemia. Ntugatinye iyo wumvise iri zina, kuko ni indwara abantu benshi batamenye, iragoye gato, kandi ni gake cyane. Uyu munsi rero turaganira kuri ibi, icyo ari cyo, ibimenyetso ni ibihe, ndetse hari uburyo bwo kuvura, byose mu buryo bworoshye cyane ushobora gusobanukirwa.
Reka tubanze turebe icyo Fanconi anemia (FA) ari cyo?
Muri make, Fanconi Anemia (FA) ni indwara idakunze kugaragara mu ngirabuzimafatizo, ikaba yibasira cyane cyane umwongo w'amagufwa mu mubiri wacu.
Noneho ushobora kuba wibaza icyo iyi soursour yo mu magufwa ari cyo. Igice cyoroshye, gifite umusemburo mu magufwa manini y'umubiri wacu. Ni nk'uruganda rw'amaraso mu mubiri wacu. Ubwoko butatu bw'ingenzi bw'uturemangingo tw'amaraso umubiri wacu ukeneye , uturemangingo dutukura, uturemangingo tw'amaraso umweru, na plaquettes, bikomoka kuri iyi soursour yo mu magufwa.
Ariko, umwongo w'amagufwa y'umuntu ufite FA ntushobora gukora utwo turemangingo tw'amaraso neza. Ni nk'aho umusaruro w'uruganda uhungabana. Kubera iyo mpamvu, utwo turemangingo tw'amaraso tuzima ntitwongerwa ku bwinshi buhagije. Iyi ndwara ishobora gutera ibibazo bitandukanye by'ubuzima. Nanone, FA ishobora kugira ingaruka ku mwongo w'amagufwa gusa, ahubwo no ku bindi bice byinshi by'umubiri.
Ni gute FA igira ingaruka ku mubiri?
Uburyo iyi ndwara igira ingaruka kuri buri muntu bushobora gutandukana, ariko muri rusange, hari ingaruka nyinshi z'ingenzi.
- Ibitagenda neza ku mubiri: Abana bagera kuri 75% bavukanye ubumuga bwo mu mutwe, cyangwa batatu kuri bane, bafite ubwoko runaka bw'ibitagenda neza ku mubiri. Ibi bishobora kugira ingaruka ku miterere ndetse no ku ngingo z'imbere.
- Kunanirwa k'umusemburo w'amagufwa: Abantu bagera kuri 90% bafite FA bagira ikibazo cy'umusemburo w'amagufwa. Ibi bivuze ko umusemburo w'amagufwa udashobora gukora uturemangingo tw'amaraso dufite ubuzima bwiza. Ibi bishobora gutera izindi ndwara z'amaraso, nka aplastic anemia na myelodysplastic syndrome (MDS) . MDS ifatwa nk'indwara ibanziriza kanseri y'amagufwa.
- Ubwiyongere bw'ibyago byo kurwara kanseri: Hagati ya 10% na 30% by'abantu bafite FA bafite ibyago byinshi byo kurwara ubwoko bumwe na bumwe bwa kanseri, nka kanseri y'amaraso. Izi kanseri zishobora no kugaragara mu bana bato ugereranyije n'umuntu usanzwe.
Ariko ntugahangayike iyo wumvise ibi bintu. Muri iki gihe, hamwe n’ubumenyi buhanitse mu buvuzi, cyane cyane uburyo bwo kuvura nko gutera umwongo w’amagufwa, abantu bafite ubumuga bwo gupfa bafite amahirwe yo kubaho ubuzima bwiza kandi burambye.
Ese indwara ya Fanconi anemia ni kanseri?
Iki ni ikibazo abantu benshi bibaza. Igisubizo cyoroshye ni oya . FA si kanseri. Ni indwara iterwa n'uturemangingo.
Ariko, kubera ko ubushobozi bw'umubiri bwo gusana uturemangingo twangiritse bugabanuka ku bantu bafite FA, baba bafite ibyago byinshi byo kurwara kanseri kurusha abandi. By'umwihariko, bafite amahirwe menshi yo kurwara kanseri nka kanseri ya myeloid ikabije , kanseri y'uruhu, na kanseri yo mu mutwe n'ijosi.
Ni ibihe bimenyetso by'iyi ndwara?
Ibimenyetso bya FA biratandukanye cyane. Hari abantu bagira ibimenyetso bigaragara igihe bavuka, mu gihe abandi bashobora kutagaragaza ibimenyetso mu gihe cy'imyaka myinshi. Reka tubice mu byiciro bitandukanye.
1. Ibimenyetso bya Anemia
Ibi bimenyetso bigaragara iyo uturemangingo dutukura tw’umubiri tugabanuka.
- Umunaniro uhoraho: Kumva unaniwe cyane kandi unaniwe ku buryo udashobora no gukora imirimo isanzwe.
- Uruhu rwerurutse: Uruhu rusa n'urukeye bitewe n'uko amaraso abura mu mubiri.
- Guhumeka nabi: Kumva uhumeka nabi nubwo umaze kugenda gato.
- Kumva umutima wawe urimo gutera cyane.
- Kurwara umutwe kenshi.
2. Ibimenyetso by'uko amagufwa adakora neza
Ibi bitera ibimenyetso bitewe no kugabanuka kw'uturemangingo dutukura tw'amaraso, uturemangingo twera tw'amaraso, na plaquettes.
- Kwandura indwara zikunze kugaragara: Bitewe n’uko uturemangingo tw’amaraso tw’umweru tuba duke, ubudahangarwa bw’umubiri buragabanuka, bigatuma habaho kwandura indwara ziterwa na bagiteri n’ibihumyo kenshi.
- Kuva amaraso byoroshye: Umubare muto w’amaraso akoreshwa mu gupima utwo dukoko utuma amaraso adakora neza. Ibi bishobora gutera kuva amaraso mu ishinya no mu mazuru, gukomereka no gucika intege, ndetse no kuva amaraso bidahagarara ndetse no mu bikomere bito.
3. Ibimenyetso bya kanseri bishobora kuba bifitanye isano na FA
- MDS na AML: Izi ndwara zishobora gutera umunaniro ukabije, kuva amaraso no gukomereka byoroshye, guhisha, guhumeka bigoranye, ndetse no kwandura indwara zikomeye.
- Kanseri ya squamous cell: Utubyimba duto cyangwa udusebe tudakira ku ruhu.
4. Imiterere ijyanye n'impinduka z'umubiri
Izi kamere zikunze kugaragara igihe umuntu avuka. Si buri wese ufite izi kamere zose, ariko ashobora kuba afite imwe cyangwa nyinshi.
| Itandukaniro ry'imiterere/ishusho | Ibisobanuro byoroshye |
|---|---|
| Impinduka mu biganza no ku gikumwe | Ibikumwe bifite ishusho idasanzwe, bifite ibikumwe bibiri ku kuboko kumwe, cyangwa nta gikumwe na kimwe bifite. |
| Umutwe muto ugereranije n'usanzwe (Microcephaly) | Aba bana bashobora kugira gutinda kwiga ibintu nko kuvuga, guhagarara no kugenda. |
| Hydrocephalus | Ibi bishobora guteza ibibazo mu kuringaniza imikorere, kureba kure, no kwiga. |
| Ubumuga bwo kutumva | Utumva duterwa n'amatwi adasanzwe cyangwa mato. |
| Ihinduka ry'ibara ry'uruhu | Uduheri tw'umukara woroshye (uduheri twa café-au-lait) cyangwa utuheri tunini ku ruhu. |
| Indwara ya Scoliose | Kubona umugongo ugoramye ku buryo budasanzwe. |
| Kudindira mu mikurire | Kuba muremure kandi uremereye kurusha bagenzi bawe. |
Kuki ibi bibaho? Impamvu ni iyihe?
Impamvu y'ibi ni inenge iri mu turemangingo twacu. Tekereza ku mubiri wacu nk'inyubako yubatswe hakurikijwe gahunda igoye. Iyo gahunda ni uturemangingo twacu. Hariho uturemangingo tugera kuri 20 dufitanye isano na FA. Inshingano nyamukuru y'utu turemangingo ni ukurinda no gusana uturemangingo tw'umubiri wacu, cyane cyane ADN, kwangirika kwa buri munsi.
Umuntu ufite FA agira impinduka muri izi gene. Kubwibyo, inzira yo gusana ibyangiritse ntibaho neza.
- Kubera ibiIbindi byangiritse kuri ADN biraterana maze uturemangingo tugatangira kwigabanyamo ibice mu buryo budasanzwe cyangwa tugapfa.
- Impinduka mu mubiri no kugabanuka k'umubare w'uturemangingo tw'amaraso bibaho iyo uturemangingo dupfuye mu buryo budasanzwe.
- Kanseri nka leukemia ibaho iyo uturemangingo dutangiye gukura mu buryo budasanzwe.
Iki ni ikintu ababyeyi bakura ku bana. Ababyeyi babiri bafite gene ifite inenge bafite amahirwe angana na 25% (umwe muri bane) yo kubyara umwana ufite FA.
Ni gute abaganga basuzuma iyi ndwara?
Akenshi, FA ikekwaho iyo hasuzumwe ibindi bimenyetso (urugero, kubura amaraso, kwandura kenshi), aho gupimwa mu buryo butaziguye. Icyo gihe ni bwo hakorwa ibizamini byihariye kuri iyi ndwara.
Dore bimwe mu bizamini bikunze gukorwa:
| Ikizamini | Ubona iki hano? |
|---|---|
| Umubare w'amaraso yuzuye (CBC) | Umubare w'uturemangingo dutukura, uturemangingo twera, n'udupira tw'amaraso mu maraso n'ubuzima bwatwo biragenzurwa. |
| Isuzuma ry'Ubwonko bw'Amagufwa (Bone Marrow Biopsy) | Hafatwa urugero ruto rw'umusemburo w'amagufwa hanyuma uturemangingo tugasuzumwa kugira ngo hamenyekane indwara. |
| MRI na Ultrasound Scans | Ibi bikoreshwa mu gukurikirana impinduka mu ngingo z'imbere z'umubiri. |
Hariho kandi ibizamini byihariye bya genetike bikoreshwa mu kwemeza iyi ndwara:
- Ikizamini cyo kuvunika kwa chromosome: Iki ni cyo kizamini nyamukuru cyo gusuzuma FA. Muri iki kizamini, hongerwamo imiti mu tunyangingo tw'amaraso maze chromosomes muri utwo tunyangingo zigapimwa kugira ngo harebwe uburyo byoroshye kuvunika. Chromosomes mu tunyangingo tw'umuntu ufite FA zivunika cyane kurusha umuntu usanzwe.
- Gupima imiterere y'uturemangingo: Iki kizamini gikorerwa kugira ngo hamenyekane inenge yihariye y'uturemangingo itera FA.
Ese nshobora kumenya niba umwana wanjye afite iyi ndwara mu gihe atwite?
Yego. Niba hari amateka y'umuryango wa FA, umwana wawe ashobora gupimwa iyi ndwara mu gihe atwite. Ibi bishobora gukorwa hakoreshejwe ibizamini nka amniocentesis cyangwa chorionic villus sampling . Ushobora kuvugana na muganga wawe kuri ibi ukamenya byinshi.
Ni ubuhe buryo bwo kuvura ibi?
Nta muti wa FA uraboneka kugeza ubu. Ariko, hari uburyo bwiza bwo kuvura ibimenyetso n'ingorane bikomoka kuri byo. Gahunda yo kuvura igenwa n'imyaka y'umurwayi, imiterere y'ibimenyetso, n'ubuzima bwe muri rusange.
| Uburyo bwo kuvura | Bigenda bite kuri ibi? |
|---|---|
| Gutera Umwobo w'Amagufwa | Ubu ni bwo buryo bwiza bwo kuvura ibibazo bifitanye isano n'amaraso biterwa na FA. Muri ibi, uturemangingo tw'umusemburo w'amagufwa tuva ku muntu muzima duterwa mu kindi gice kugira ngo dusimbuze umusemburo w'amagufwa urwaye. |
| Ubuvuzi bwa Androgen | Ubwo bwoko bwa hormone butuma umubiri ukora uturemangingo dutukura tw’amaraso na platelets. |
| Ibintu Bituma Hakura Ubuhanga | Ibi bitangwa nk'inshinge kandi bigafasha umusokoro wo mu magufwa gukora uturemangingo twinshi tw'amaraso twera n'udutukura. |
| Kubaga | Kubaga bishobora gukoreshwa mu gukosora ibibazo by'umubiri bibaho igihe umwana avuka (urugero: ikibazo cy'ikirenge kinini). |
Ibintu ugomba kumenya ku bijyanye no kubana na FA
Umuntu ufite ubumuga bwo mu mutwe cyangwa umubyeyi w'umwana urwaye indwara yo mu mutwe agomba guhora ari maso.
- Ingaruka za kanseri:Abantu bafite ubumuga bwo mu mutwe (FA) baba bafite ibyago byinshi byo kwandura kanseri nk'itabi, bityo kunywa itabi no kunywa umwotsi w'itabi bigomba kwirindwa burundu .
- Kurinda uruhu rwawe: Bitewe n'ibyago byinshi byo kurwara kanseri y'uruhu, ni ngombwa cyane gupfuka uruhu rwawe neza no gukoresha amavuta yo kwisiga ku zuba mu gihe ugiye ku zuba.
- Witondere imvune: Bitewe n'uko ibyago byo kuva amaraso byiyongera, ugomba kwitonda cyane mu gihe cy'ibikorwa bishobora gutera imvune.
- Gusuzumwa buri gihe kwa muganga: Nubwo watewe umwongo w'amagufwa neza, ibyago byo kurwara kanseri birakomeza, bityo ni ngombwa ko ukomeza gusuzumwa no gukurikiranwa na muganga mu buzima bwawe bwose. Menya neza impinduka iyo ari yo yose mu mubiri wawe (gukomereka kudasanzwe, kuva amaraso, umunaniro) kandi ubimenyeshe muganga wawe vuba niba ubonye iyo ari yo yose.
Kubana n'iki kibazo bishobora kugorana, ariko itsinda ry'abaganga bazaguha ubuyobozi n'ubufasha ukeneye. Rero ntutinye kuvugana na muganga wawe ku mpungenge ushobora kuba ufite.
Ubutumwa bwo kujyana mu rugo
- Fanconi anemia (FA) ni indwara idakunze kugaragara mu buryo bw'uturemangingo, ikaba yibasira cyane cyane umwongo w'amagufwa.
- Ibi bishobora gutuma uturemangingo tw’amaraso tudakora neza, impinduka mu mubiri, ndetse n’ibyago byo kurwara kanseri byiyongera.
- Menya ibimenyetso nko kunanirwa kenshi, kubura ubwiza, kuva amaraso byoroshye, no kwandura indwara kenshi.
- Iyi ndwara ishobora gupimwa neza binyuze mu maraso yihariye n'ibipimo by'uturemangingo.
- Nubwo uburyo bwo kuvura nko gutera umwongo w’amagufwa bushobora gukemura neza ibibazo by’indwara bifitanye isano n’amaraso, gukurikirana ubuzima bwose bw’abaganga ni ingenzi cyane.
- Niba wowe cyangwa umwana wawe mufite iyi ndwara, ntabwo muri mwenyine. Gukorana bya hafi n'itsinda ry'abaganga bishobora kubafasha gutsinda iki kibazo.
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