Indwara ya Turner ni iki? Ibimenyetso, Intandaro, n'Ubuvuzi

Indwara ya Turner ni indwara y'impyiko iterwa n'ikibazo mu mporokari z'umuntu, ikaba igira ingaruka ku bagore gusa, ikaba ibaho iyo imwe mu mporokari za X ibura cyangwa igabanuka. Iyi mpinduka mu mporokari ibaho ku mwana umwe kuri 2.000 kugeza kuri 2.500 bavutse ari abakobwa, bituma idakunze kugaragara cyane ariko si indwara idasanzwe.

Iyi ndwara igira ingaruka ku iterambere n'ubuzima bw'umuntu mu buzima bwe bwose. Nubwo indwara ya Turner igira ibibazo byihariye, abagore benshi bafite iyi ndwara babasha kubaho ubuzima buzuye, bwiza kandi bwiza, bafashwe neza n'abaganga.

Indwara ya Turner ni iki?

Indwara ya Turner ibaho iyo umukobwa avuka afite imwe gusa mu mporokari za X zuzuye aho kuba ebyiri za X zisanzwe. Rimwe na rimwe, igice cy'imporokari ya kabiri ya X gishobora kuba cyabuze cyangwa kigahinduka mu buryo butandukanye.

Imporokari zawe ziba zirimo amabwiriza y'impyiko agena uko umubiri wawe uterambere kandi ukora. Kubera ko abagore basanzwe bafite imikorokari ebyiri za X (XX), kugira imwe gusa mu mporokari za X zuzuye bigira ingaruka ku iterambere risanzwe mu buryo runaka. Ibintu byabuze mu mporokari bigira ingaruka cyane ku gukura, imyaka y'ubugimbi, n'imikorere y'imigongo imwe.

Iyi ndwara ibaho kuva umuntu avuka, nubwo ishobora kutaboneka kugeza mu bwana cyangwa mu bukure. Ubukana bw'ibimenyetso bishobora gutandukana cyane ukurikije uko ibintu byinshi byabuze mu mporokari n'uko uturemangingo twagizweho ingaruka.

Ni ibihe bimenyetso by'indwara ya Turner?

Ibimenyetso by'indwara ya Turner bishobora kugaragara mu bihe bitandukanye by'ubuzima, kandi si buri wese uba afite ibimenyetso byose bishoboka. Ibimenyetso bikunze kugaragara cyane mu bwana no mu myaka y'ubugimbi iyo itandukaniro mu gukura no gutera imbere biboneka.

Mu buto bwa mbere no mu bwana, ushobora kubona:

• Gukura buhoro ugereranije n'abandi bana
• Kubyimbagira mu ntoki no mu birenge (lymphedema)
• Ikibero kinini gifite amabere atandukanye
• Umusatsi muke inyuma y'ijosi
• Ijosi rigufi, rihambiriye
• Ibibazo by'umutima cyangwa ibibazo by'impyiko
• Imyanda y'amatwi cyangwa ibibazo by'umva

Uko abana bafite indwara ya Turner bakura, ibindi bimenyetso bishobora kuza. Ibi bikunze kuba harimo uburebure buke, ibibazo byo kwiga imibare n'ibintu by'umwanya, n'ibibazo by'imibanire mu gusoma ibimenyetso bidashyirwa mu magambo.

Mu myaka y'ubugimbi, ikimenyetso gikunze kugaragara ni ukubura cyangwa gutinda kw'imyaka y'ubugimbi. Abakobwa benshi bafite indwara ya Turner ntibabasha gutera imbere nk'uko bikwiye mu myaka y'ubugimbi, nko gutera amabere cyangwa imihango, badafashwe imiti y'imisemburo. Ibi bibaho kuko imikorere y'amagi yabo idakora neza.

Ibindi bimenyetso bidafite akamaro bishobora kuba harimo amaso yamanuka, isura nto, cyangwa isura idasanzwe. Ariko kandi, abantu benshi bafite indwara ya Turner bafite isura isanzwe rwose.

Ni izihe ubwoko bw'indwara ya Turner?

Indwara ya Turner ifite ubwoko butandukanye bushingiye ku buryo bw'imporokari ziba mu turemangingo tw'umuntu. Ubwoko bw'indwara bushobora kugira ingaruka ku bimenyetso umuntu agira n'uburyo bubi.

Ubwoko bwakunze kugaragara cyane ni indwara ya Turner isanzwe cyangwa monosomy X. Muri ubwo bwoko, buri turemangingo mu mubiri tugira imwe gusa mu mporokari za X aho kuba ebyiri. Ibi bikunze gutera ibimenyetso bikunze kugaragara kandi bigira ingaruka kuri 45% by'abantu bafite indwara ya Turner.

Indwara ya Turner ya mosaic ibaho iyo imwe mu turemangingo ifite imwe mu mporokari za X mu gihe ibindi bifite imikorokari ebyiri za X cyangwa ibindi bintu bitandukanye. Abantu bafite indwara ya Turner ya mosaic bakunze kugira ibimenyetso bito kuko imwe mu turemangingo twabo ikora neza. Ibi bigize 15-25% by'imibare.

Ibindi bwoko bidafite akamaro bikubiyemo gukuraho igice cyangwa impinduka mu buryo bw'imikorokari imwe ya X. Izi mpinduka zishobora gutera imikorere itandukanye y'ibimenyetso, kandi bamwe mu bantu bashobora kugira ibimenyetso bito cyane bidapimwa imyaka myinshi.

Ni iki gituma indwara ya Turner ibaho?

Indwara ya Turner iterwa n'ikosa ry'impanuka mu gihe cyo gukora uturemangingo tw'imyororokere cyangwa mu iterambere rya mbere ry'umwana. Iyi mpinduka mu mporokari ibaho ku bw'impanuka kandi ntiterwa n'icyo ababyeyi bakoze cyangwa batakoze.

Iyo mpinduka ishobora kuba mu buryo butandukanye. Rimwe na rimwe, intanga y'umugore cyangwa iy'umugabo iba idafite imikorokari ya X, cyangwa imikorokari ya X iba ibuze mu ntangiriro nyuma yo gusama. Mu gihe cya mosaic, igihombo cy'imikorokari iba nyuma mu iterambere ry'umwana, ikagira ingaruka ku turemangingo tumwe na tumwe.

Iyi ndwara ntiragwa ku babyeyi mu buryo busanzwe. Ni icyo abaganga bita impinduka nshya cyangwa impinduka nshya ibaho ku bwayo. Ababyeyi bafite umwana ufite indwara ya Turner ntibagira ibyago byinshi byo kubyara undi mwana ufite iyo ndwara.

Imyaka myinshi y'umubyeyi ntigira ingaruka ku kubaho kw'indwara ya Turner, bitandukanye n'izindi ndwara ziterwa n'ikibazo mu mporokari. Iyi ndwara ishobora kuba mu gihe cyo gutwita icyo ari cyo cyose, nubwo bikwiye kuzirikana ko abana benshi bafite indwara ya Turner bapfa mu nda.

Ni ryari ukwiye kujya kwa muganga kubera indwara ya Turner?

Ukwiye kujya kwa muganga niba ubona ibimenyetso bishobora kugaragaza indwara ya Turner, cyane cyane gukura buhoro cyangwa itandukaniro mu iterambere. Kumenya hakiri kare indwara bifasha mu gukurikirana neza no kuvura.

Mu bwana, tekereza kujya kwa muganga niba umukobwa wawe ari muto cyane ugereranije n'abandi bana, afite imyanda y'amatwi cyangwa afite ibimenyetso by'umubiri bidasanzwe nko kuba afite ijosi rihambiriye cyangwa kubyimbagira mu ntoki no mu birenge. Ibibazo byo kwiga, cyane cyane imibare, bishobora kuba ikimenyetso cya mbere.

Ku rubyiruko, gutinda kw'imyaka y'ubugimbi ni ikimenyetso cya mbere gikunze kugaragara gitera gupimwa. Niba umukobwa ataratangiye gutera amabere cyangwa ataratangiye imihango afite imyaka 13-14, ni ngombwa gusaba inama y'abaganga.

Abantu bakuru bakeka ko bashobora kuba bafite indwara ya Turner bataramenya bagomba kujya kwa muganga, cyane cyane niba bafite uburebure buke, ibibazo byo kubyara, cyangwa ibibazo by'ubuzima nko kubabara umutima cyangwa ibibazo by'impyiko. Bamwe mu bantu bahabwa ubuvuzi bwa mbere mu bukure iyo bashaka kumenya ibibazo byo kubyara.

Ni ibihe bintu byongera ibyago byo kurwara indwara ya Turner?

Indwara ya Turner ibaho ku bwayo kandi ntabwo ifite ibyago bisanzwe nk'izindi ndwara nyinshi. Ikosa ry'imikorokari itera indwara ya Turner ibaho ku bwayo mu gihe cyo kugabana uturemangingo.

Bitandukanye n'izindi ndwara ziterwa n'ikibazo mu mporokari, indwara ya Turner ntiyihuzwa n'imyaka myinshi y'umubyeyi. Abagore b'imyaka yose bashobora kubyara umwana ufite indwara ya Turner, kandi ibyago bikomeza kuba bike mu myaka yose yo kubyara.

Amateka y'umuryango ntiyagira ingaruka ku kubaho kw'indwara ya Turner. Kubera ko idasimburwa mu buryo busanzwe, kugira umuntu wo mu muryango ufite indwara ya Turner ntibitera abandi bantu bo mu muryango kugira iyo ndwara.

Ikintu rukumbi gikomeye ni igitsina, kuko indwara ya Turner igira ingaruka ku bantu b'igitsina gore gusa. Ariko kandi, ibi ntabwo ari ikintu cyongera ibyago mu buryo busanzwe, kuko ni igice cy'uburyo iyi ndwara isobanurwa.

Ni izihe ngaruka zishoboka z'indwara ya Turner?

Indwara ya Turner ishobora gutera ibibazo bitandukanye by'ubuzima bishobora kuza mu gihe, nubwo atari buri wese uba afite ibyo bibazo byose. Gusobanukirwa izi ngaruka zishoboka bifasha mu gukurikirana neza no kuvura hakiri kare igihe bikenewe.

Ibibazo by'umutima biri mu ngaruka zikomeye kandi zishobora kuba harimo:

• Coarctation of the aorta (kugabanya umuyoboro mukuru w'amaraso)
• Bicuspid aortic valve (umuvure w'umutima ufite ibice bibiri aho kuba bitatu)
• Umuvuduko w'amaraso uri hejuru
• Aortic root dilation

Ibi bibazo by'umutima bisaba gukurikiranwa buri gihe mu buzima bwose, kuko bimwe bishobora gukenera kubagwa cyangwa kuvurwa buri gihe.

Ibibazo by'impyiko n'inzira z'umushitsi bibaho kuri kimwe cya gatatu cy'abantu bafite indwara ya Turner. Ibi bishobora kuba harimo itandukaniro mu buryo bw'impyiko cyangwa aho ziri, cyangwa ibibazo by'uko inkari zisohoka mu mpyiko. Ibibazo byinshi by'impyiko ntibitera ibimenyetso ariko bikeneye gukurikiranwa.

Ibibazo by'amagufwa bikunze kuza, birimo osteoporosis (amagufwa adakomeye) n'ibyago byinshi byo kuvunika. Ibi bibaho kubera kubura estrogen kandi bisaba kwita ku nyongeramusaruro ya calcium n'imyitozo ngororamubiri.

Ingaruka zidafite akamaro ariko zikomeye zishobora kuba harimo ibibazo bya thyroid, diyabete, ibibazo by'umwijima, n'izindi ndwara ziterwa n'ubudahangarwa bw'umubiri. Gupimwa buri gihe bifasha mu gufata ibyo bibazo hakiri kare igihe bishobora kuvurwa.

Indwara ya Turner imenyekanwa gute?

Indwara ya Turner imenyekanwa hakoreshejwe ikizamini cy'amaraso cyitwa chromosomal analysis cyangwa karyotyping, gisuzuma imikorokari iri mu turemangingo twawe. Iki kizamini gishobora kugaragaza neza niba indwara ya Turner ibaho kandi kigaragaza ubwoko bwayo.

Uburyo bwo gupima indwara bukunze gutangira iyo muganga abonye ibimenyetso by'umubiri cyangwa imikorere iterambere igaragaza indwara ya Turner. Muganga wawe azatangira gusuzuma umubiri wawe no kureba amateka yawe y'ubuzima n'uko wakuriye.

Rimwe na rimwe indwara ya Turner imenyekanwa mbere y'uko umwana avuka hakoreshejwe ibizamini byo gutwita. Ultrasound ishobora kugaragaza ibimenyetso bimwe na bimwe nko kubabara umutima cyangwa amazi menshi, bigatuma hakorwa ibizamini by'imporokari. Ariko kandi, imibare myinshi imenyekanwa mu bwana cyangwa mu myaka y'ubugimbi iyo ibibazo byo gukura cyangwa gutera imbere biboneka.

Ibizamini by'inyongera bishobora kuba bikenewe kugira ngo harebwe ibibazo by'ubuzima bifitanye isano iyo indwara ya Turner imaze kumenyekana. Ibi bikunze kuba harimo ibizamini by'umutima, ibizamini by'impyiko, ibizamini by'umva, n'amaraso kugira ngo harebwe imikorere ya thyroid n'indi migongo.

Ni ubuhe buvuzi bw'indwara ya Turner?

Ubuvuzi bw'indwara ya Turner bugamije gucunga ibimenyetso no gukumira ingaruka hakoreshejwe imiti y'imisemburo, gukurikirana buri gihe, no kwitaho. Gahunda y'ubuvuzi igenewe umuntu umwe iterwa n'ibimenyetso afite n'uburyo bubi.

Imiti y'imisemburo yo gukura ikunze gusabwa ku bana bafite indwara ya Turner bafite uburebure buke ugereranije n'imyaka yabo. Iyi miti ishobora gufasha kongera uburebure bw'umuntu mukuru, nubwo isaba inshinge buri gihe mu myaka myinshi. Gutangira kuvura hakiri kare mu bwana bikunze gutera umusaruro mwiza.

Imiti yo gusimbuza estrogen ikunze gutangira mu myaka y'ubugimbi kugira ngo itere imyaka y'ubugimbi isanzwe n'iterambere ry'ibimenyetso by'ubugimbi. Iyi miti y'imisemburo ifasha mu gutera amabere, imihango, n'amagufwa. Igihe n'umwanya byateguwe neza kugira ngo bigere ku myaka y'ubugimbi isanzwe.

Gukurikirana umutima no kuvura ni ibice by'ingenzi byo kwitaho buri gihe. Bitewe n'ibibazo by'umutima umuntu afite, ubuvuzi bushobora kuba harimo imiti, gupimwa buri gihe na cardiologue, cyangwa kubagwa kugira ngo hakorwe impinduka mu buryo bw'umubiri.

Inkunga y'uburezi ishobora gufasha mu gukemura ibibazo byo kwiga, cyane cyane imibare n'ibintu by'umwanya. Abantu benshi bafite indwara ya Turner bagira inyungu mu gufashwa kwiga cyangwa mu guhabwa ubufasha bwo kwiga kugira ngo bagere ku bushobozi bwabo bwose mu mashuri.

Uko wakwitwara mu rugo ufite indwara ya Turner

Kwitwara mu rugo ufite indwara ya Turner bikubiyemo gushinga ahantu hafasha iterambere ryiza no guha buri wese ibyo akeneye. Gahunda ya buri munsi n'ibiganiro bigaragara ku ndwara bifasha mu kubaka icyizere n'ubwigenge.

Kugira ubuzima bwiza biba byiza cyane ku bantu bafite indwara ya Turner. Imikino ngororamubiri ifasha mu buzima bw'amagufwa, imikorere y'umutima, n'imibereho myiza muri rusange. Ibikorwa byo gutwara ibiro nko kugenda, kubyina, cyangwa siporo bishobora kugira akamaro cyane ku gukomera kw'amagufwa.

Ibiryo byiza bifasha mu gukura no gutera imbere, cyane cyane mu bwana no mu myaka y'ubugimbi. Ibiryo byuzuye birimo calcium na vitamine D bifasha mu kurinda amaguru, mu gihe kugira ibiro bisanzwe bigabanya umuvuduko ku mutima n'indi migongo.

Kugendera ku mabwiriza y'abaganga ni ingenzi iyo uhawe imiti y'imisemburo. Gushyiraho uburyo bwo kwibutsa no gusobanukirwa akamaro ko kuvurwa buri gihe bifasha mu kugera ku musaruro mwiza.

Inkunga yo mu mutwe n'ubujyanama bishobora gufasha mu gukemura ibibazo by'icyizere, ibibazo by'imibanire, cyangwa impungenge ku isura n'uburumbuke. Imiryango myinshi isanga amatsinda y'inkunga afasha mu guhuza n'abandi basobanukiwe ibintu byihariye byo kubaho ufite indwara ya Turner.

Uko wakwitegura kujya kwa muganga

Kwitwara neza mbere yo kujya kwa muganga bifasha mu kugira inyungu nyinshi mu gihe cyawe hamwe n'abaganga. Kugira inyandiko ziteguwe neza no gutegura ibibazo mbere bifasha mu gukora neza igihe cyo kujya kwa muganga.

Zana urutonde rwuzuye rw'imiti ukoresha ubu, harimo umwanya n'igihe uyinywa. Ibi bikubiyemo imiti y'abaganga, imiti yo mu maduka, n'ibindi byongeramusaruro. Nanone, zana inyandiko z'ibizamini byakozwe vuba, imbaraga, n'ibimenyetso byose wabonye.

Andika ibibazo byihariye cyangwa impungenge mbere yo kujya kwa muganga. Ibintu bisanzwe bishobora kuba harimo uburyo bwo gukura, ibimenyetso by'iterambere, uburyo bwo kuvura, cyangwa impungenge ku ngaruka. Ntugatinye kubabaza icyo ari cyo cyose gikubabaza.

Tekereza kuzana umuntu wo mu muryango cyangwa inshuti kugira ngo aguhe inkunga, cyane cyane ku gihe cyo kujya kwa muganga cyangwa igihe uganira ku mpinduka mu buvuzi. Bashobora gufasha kwibuka amakuru yavuzwe no guha inkunga yo mu mutwe.

Tegura kuganira ku mibereho yawe ya buri munsi, ibibazo cyangwa impinduka wabonye, n'uko wumva mu mutwe. Ikipe yawe y'abaganga ikeneye ayo makuru kugira ngo iguhe ubuvuzi bwiza.

Icyingenzi cyo kuzirikana ku ndwara ya Turner

Indwara ya Turner ni indwara y'impyiko ishobora kuvurwa igira ingaruka ku bagore, kandi hakoreshejwe ubuvuzi n'inkunga, abantu benshi bafite indwara ya Turner bashobora kubaho ubuzima bwiza kandi buzuye. Kumenya hakiri kare indwara no kuvurwa neza bigira uruhare rukomeye mu musaruro.

Ikintu cy'ingenzi cyo kuzirikana ni uko indwara ya Turner igira ingaruka kuri buri wese mu buryo butandukanye. Nubwo hari ibimenyetso bisanzwe n'ingaruka zishoboka, uburambe bwa buri muntu ni bwihariye. Icyakorera umuntu kimwe gishobora kuba atari cyo cyiza ku wundi.

Gukurikirana buri gihe no kugendera ku buvuzi ni ingenzi mu gukumira ingaruka no kugira ubuzima bwiza. Ibi bikubiyemo gukorana n'ikipe y'inzobere zisoma indwara ya Turner kandi zishobora gutanga ubuvuzi buuzuye.

Inkunga y'umuryango, inshuti, n'abaganga igira uruhare rukomeye mu gufasha abantu bafite indwara ya Turner gutera imbere. Abantu benshi bafite iyi ndwara bagera ku ntego zabo mu burezi, mu kazi, no mu buzima bwite bafashijwe neza kandi bagira umuhate.

Ibibazo bikunze kubaho ku ndwara ya Turner

Abantu bafite indwara ya Turner bashobora kubyara?

Abantu benshi bafite indwara ya Turner bagira ibibazo byo kubyara kubera imikorere mibi y'amagi, ariko gutwita bishoboka mu bihe bimwe na bimwe. Hagati ya 2-5% by'abagore bafite indwara ya Turner bashobora gusama mu buryo busanzwe. Ku bandi, uburyo bwo kubyara bufasha nk'uko gutanga amagi bishobora gutuma gutwita bishoboka hakoreshejwe ubufasha bw'abaganga.

Indwara ya Turner ni ubwoko bw'ubumuga bwo mu mutwe?

Indwara ya Turner si ubumuga bwo mu mutwe. Abantu benshi bafite indwara ya Turner bafite ubwenge busanzwe muri rusange, nubwo bashobora kugira ibibazo byihariye byo kwiga, cyane cyane imibare, ibintu by'umwanya, n'ibimenyetso by'imibanire. Ibyo bibazo bishobora gukemurwa hakoreshejwe inkunga y'uburezi ikwiye.

Abantu bafite indwara ya Turner babaho igihe kingana gute?

Bafashwe neza n'abaganga, abantu bafite indwara ya Turner bashobora kugira ubuzima bwiza cyangwa hafi ya bwose. Ikintu cy'ingenzi ni gukurikirana buri gihe no kuvura ibibazo bishoboka, cyane cyane ibibazo by'umutima. Abagore benshi bafite indwara ya Turner babaho ubuzima bwiza, bwiza kugeza mu myaka yabo y'ubukure.

Indwara ya Turner izakomeza kuba mbi uko igihe gihita?

Indwara ya Turner ubwayo ntigira ingaruka mbi, ariko zimwe mu ngaruka zishobora kuza uko igihe gihita niba zitavuwe neza. Gukurikirana buri gihe bifasha mu gufata no kuvura ibibazo hakiri kare. Bafashwe neza, ibintu byinshi by'iyi ndwara bishobora gucungwa neza cyangwa bikumirwa.

Indwara ya Turner ishobora gukumirwa?

Indwara ya Turner ntishobora gukumirwa kuko ibaho kubera ikosa ry'imikorokari mu gihe cyo kugabana uturemangingo. Ntiterwa n'icyo ababyeyi bakoze cyangwa batakoze, kandi nta buryo bwo gukumira impinduka mu mporokari ziterwa n'iyi ndwara. Ariko kandi, kumenya hakiri kare indwara no kuvura bishobora gukumira cyangwa kugabanya ingaruka nyinshi.