Reka twige gusa kuri Turner Syndrome, ifata umukobwa wawe.

Ese hari igihe wumva umukobwa wawe ari mugufi kurusha abandi bana? Nubwo abandi bakobwa b'ingeri ze bageze mu bwangavu, umukobwa wawe ntabwo agaragaza ibyo bimenyetso? Ni ibisanzwe ko umubyeyi cyangwa se yumva afite ubwoba kandi ahangayikishijwe n'ibintu nk'ibi. Akenshi, ibi bishobora kuba ibintu bisanzwe. Ariko, rimwe na rimwe impamvu ibi bishobora kuba indwara yihariye yitwa 'Turner Syndrome' yibasira abakobwa gusa. Ntidukwiye gutinya iyo twumvise iri zina. Uyu munsi, tuzavuga mu buryo bworoshye kandi busobanutse icyo ari cyo, impamvu bibaho, n'icyakorwa kuri byo.

Mu magambo make, Turner Syndrome ni iki?

Indwara ya Turner ni indwara ivukanwa mu buryo bw’uturemangingo, ikaba yibasira abakobwa gusa. Ntabwo yandurira mu buryo bw’umubiri.

Reka dusubire ku binyabuzima kugira ngo tubisobanukirwe. Mu magambo make, buri karemangingo mu mubiri wacu karimo 'chromosomes' zigena amakuru y'uturemangingo (uburebure bwacu, ibara, uko tugaragara, nibindi). Ubusanzwe, ingirabuzimafatizo y'abagore igira chromosomes ebyiri z'igitsina zitwa X (XX). Ingirabuzimafatizo y'abagabo ifite X imwe n'imwe Y (XY).

Indwara ya Turner ni indwara aho umwana w’umukobwa abura chromosomes ebyiri za X zose cyangwa igice cyazo. Iki ni ikintu gitunguranye kibaho mu gihe cyo gutwita cyangwa mu gihe cy’inda. Ni ngombwa kwibuka ko ibi bidaterwa n’ikosa rya nyina cyangwa se .

Iyi ndwara ishobora kugira ingaruka ku mwana mu buryo butandukanye, ariko hari ibimenyetso bibiri by'ingenzi bikunze kugaragara:

1. Kuba mugufi kurusha abandi (uburebure bugufi)

2. Intanga ngore zidakora neza , bivuze ko ubugimbi n'ubushobozi bwo kubyara bigira ingaruka.

Ibimenyetso ni ibihe? Ni gute twabimenya?

Hari abana bagaragaza ibi bimenyetso bakivuka. Ku bandi, ibimenyetso bigaragara buhoro buhoro mu bwana. Hari igihe ibi bidakekwa kugeza igihe bazaba bakuru. Kubwibyo, ni ngombwa cyane kumenya ibi bimenyetso.

Hari igihe ibizamini byo kubyara, nko gupima umwana utwite hakoreshejwe ultrasound, bishobora gutanga ibimenyetso. Urugero, iyo umwana asa n'aho afite amazi inyuma y'ijosi rye, cyangwa niba hari ikibazo ku mutima we cyangwa impyiko ze, abaganga bashobora gukeka ko ari ikibazo.

Ese hari ubwoko bw'ingenzi bwa Turner syndrome?

Yego, hari ubwoko bubiri bw'ingenzi bitewe n'uko iyi ndwara ibaho.

Monosomy X

Ubu ni bwo bwoko bukunze kugaragara cyane. Aha niho chromosome imwe ya X ibura burundu muri buri karemangingo k’umubiri w’umwana. Ibi akenshi biterwa n’ikosa ritunguranye mu igi rya nyina cyangwa intanga za se mu gihe cyo gusama. Ibimenyetso bikunze kugaragara cyane muri ubwo bwoko.

Indwara ya Mosaic Turner

Nk’uko ijambo 'mosaic' ribisobanura, ikigaragara hano ni uko igice cyangwa chromosome yose ya X ibura muri zimwe mu turemangingo tw’umubiri w’umwana gusa.Izindi selile zifite chromosomes zisanzwe (XX). Tekereza umubiri wacu nk'urukuta rukozwe mu matafari mato (selile). Mu mimerere ya mosaic, amwe mu matafari ni yo afite iri tandukaniro. Andi ni asanzwe. Iri ni ikosa ritunguranye ribaho mu gihe cy'igabanyuka ry'ingirabuzimafatizo mu gihe cy'inda. Ibi bishobora gutera ibimenyetso bike, kandi bishobora no kugorana kubisuzuma.

Ni izihe ngorane zindi z'ubuzima (ingorane) zishobora guterwa n'iyi ndwara?

Abana barwaye Turner syndrome baba bafite ibyago byinshi byo kugira ibibazo bimwe na bimwe by’ubuzima, bityo ni ngombwa ko bajya basuzumwa na muganga buri gihe.

Ni gute umuganga asuzuma ibi?

Umuganga ashobora gusuzuma iyi ndwara mbere cyangwa nyuma yuko umwana avutse.

Mbere yo kuvuka:

• NIPT (Gupima mbere yo kubyara): Ubu ni uburyo bwo gupima amakuru y’uturemangingo tw’umwana hakoreshejwe ingero z’amaraso yakuwe ku mubyeyi utwite.
• Gupima hakoreshejwe ultrasound: Ibi bishobora gukeka ko ari ikibazo iyo gupima bigaragaje ibimenyetso by'ibibazo by'umutima w'umwana, impyiko, cyangwa amazi yibumbiye inyuma y'ijosi.
• Amniocentesis: Iyi ndwara ishobora kwemezwa 100% hakoreshejwe icyitegererezo cy'amazi y'umwana akikije umwana no gukora ikizamini cya genetiki (karyotype analysis) ku tunyangingo tw'umwana.

Nyuma yo kuvuka:

Nyuma y'uko umwana avutse, niba muganga akeka ko hari ikibazo gishingiye ku bimenyetso by'umwana, azategeka ko apimwa amaraso yitwa 'karyotyping'. Ibi bikubiyemo gufata ikizamini cy'amaraso no gusuzuma chromosomes hifashishijwe mikorosikopi kugira ngo hamenyekane neza niba chromosome X ibuze, yose cyangwa igice cyayo.

Uburyo bwo kuvura ni ubuhe? Ese bushobora gukira burundu?

Mbere na mbere, kubera ko Turner syndrome ari indwara iterwa n’uturemangingo, ntishobora gukira burundu.

Ubuvuzi bwibanda cyane cyane ku misemburo.

• Uburyo bwo kuvura imisemburo ikura mu bantu: Ubu buryo ni ingenzi cyane kugira ngo bwongere uburebure bw'umwana. Ubu ni urushinge rw'imisemburo rutangwa buri munsi. Iyo ubu buryo butangiye akiri muto, ni ukuvuga ko iyo bigaragaye ko gukura buhoro, umwana azabasha kugera ku burebure bwiza.
• Ubuvuzi bwa estrogen: Abakobwa benshi barwaye Turner syndrome ntibakora estrogen mu buryo busanzwe, bityo akenshi bahabwa estrogen iturutse hanze mu gihe cy'ubwangavu (hagati y'imyaka 11-12). Ibi nibyo bitera ibimenyetso by'ubwangavu, nko gukura kw'amabere no gutangira imihango. Ni ingenzi kandi ku magufwa akomeye n'ubuzima bwiza bw'umutima.
• Uburyo bwo kuvura porojestini: Nyuma y'imyaka mike yo kuvura estrogen, imisemburo yitwa progestin nayo iratangwa kugira ngo ikomeze imihango mu buryo busanzwe.

Uretse ubu buryo bwo kuvura imisemburo, ni ngombwa gushaka abaganga no kwisuzumisha buri gihe ku nzobere zibishinzwe ku bibazo twavuze mbere (nk'indwara z'umutima, ibibazo by'impyiko, n'ubumuga bwo kutumva).

Ni ryari nkwiye kuvugana na muganga ku bijyanye n'umwana wanjye?

Ni ngombwa cyane gusuzuma indwara no gutangira kuyivura vuba bishoboka.

Itondere imikurire y'umwana wawe n'intambwe ze. Niba ubona ko umukobwa wawe ari mugufi cyane ugereranyije n'abandi bana bo mu kigero cye, cyangwa niba agaragaza kimwe mu bimenyetso byavuzwe haruguru, ntutinde kuvugana na muganga w'abana.

Hari ibindi bintu bibiri by'ingenzi abaganga basaba:

• Gusuzuma ubumuga bwo kwiga: Ni byiza kwita ku mikurire y'umwana wawe hakiri kare, wenda kuva ku mwaka umwe kugeza kuri ibiri, no gusuzuma ubumuga bwo kwiga. Niba buhari, ushobora kandi kuvugana n'abarimu ku ishuri ukamuha ubufasha bwihariye akeneye.
• Gushaka ubufasha mu by’ubuzima bwo mu mutwe: Ni ngombwa cyane gushaka ubufasha bw’umujyanama mu by’ubuzima bwo mu mutwe (umwana mu by’imitekerereze y’abana) kugira ngo afashe umwana wawe guhangana n’ibibazo byo mu muryango, kutigirira icyizere, ndetse n’imihangayiko ivuka iyo abayeho muri iki kibazo.

Nubwo igihe cyo kubaho cy'umwana urwaye Turner syndrome gishobora kuba gito ugereranyije n'ic'abaturage muri rusange, iyo akurikiranwe n'abaganga buri gihe, akavurwa ku gihe, kandi agakemura ibibazo by'ubuzima neza, ashobora kubaho ubuzima busanzwe kandi bushimishije.