Indwara ya Timothy Syndrome ni iki? Ese umwana wawe afite izi ngaruka? Reka tuganire!

Ese uhangayikishijwe n'ikibazo cy'umutima cy'umwana wawe, cyangwa impinduka mu miterere ye cyangwa imikurire ye? Hari igihe impamvu nyamukuru ishobora kuba indwara y'uturemangingo tutarabyumva cyane. Imwe muri izo ndwara zidasanzwe ariko z'ingenzi ugomba kumenya ni indwara ya Timothy. Uyu munsi, turayivugaho mu buryo bworoshye, mu buryo ushobora gusobanukirwa.

Indwara ya Timothy Syndrome ni iki?

Muri make, indwara ya Timothy syndrome ni indwara idakunze kugaragara mu maraso. Ishobora kugira ingaruka ku mutima w'umwana wawe, ku miterere ye, ku mitsi ye, no ku budahangarwa bw'umubiri . Ibimenyetso biratandukanye, kandi bamwe mu bana bashobora kugira ibibazo by'umutima bishobora gushyira ubuzima bwabo mu kaga.

Ni nde ubibona? Ni gute byarazwe?

Ubu ushobora kuba wibaza uti 'Ni nde urwara ibi?' Indwara ya Timothy ni indwara iterwa n'uturemangingo, bityo umuntu wese ashobora kurwara. Bibaho gutya:

• Ubusanzwe, umwana agomba kuragwa iyo ndwara n'umubyeyi umwe gusa, ari byo byitwa autosomal dominant inheritance.
• Hari igihe bitangaje ko umwana ashobora kuragwa iyi ndwara n'umubyeyi udafite ibimenyetso. Ibi biterwa nuko gene yanduye ishobora kuba iri mu tunyangingo tumwe na tumwe tw'umubiri w'umubyeyi, atari mu tunyangingo twose . Ibi byitwa `mosaic` condition.
• Ariko, bitewe n'ubukana bw'ibi bimenyetso, ni gake cyane umuntu urwaye indwara ya Timothy syndrome yanduza iyi gene ku gisekuru gikurikira.
• Akenshi, iyi ndwara iterwa n'ubwoko bushya bw'uturemangingo, budafite amateka y'umuryango . Ni ukuvuga, bitewe n'impinduka nshya z'uturemangingo.

Ibi ni ibisanzwe gute?

Ukurikije uburyo ikunze kugaragara, indwara ya Timothy syndrome ni indwara idakunze kugaragara cyane . Abantu bari munsi y'ijana gusa ku isi nibo bazwiho kuyirwara. Bityo ntabwo bivugwaho byinshi.

Ni ibihe bimenyetso by'indwara ya Timothy Syndrome?

Ibi bimenyetso bishobora gutandukana bitewe n'umwana umwe, kandi ubukana bw'ibimenyetso bushobora gutandukana. Umwana wawe ashobora kugira ibimenyetso bimwe na bimwe, ariko ashobora kuba adafite bimwe. Ibi bimenyetso bigira ingaruka cyane cyane ku mutima, ku miterere y'umubiri, n'indi mikorere y'umubiri .

Ibimenyetso bigira ingaruka ku mutima

Ibimenyetso bifitanye isano n'umutima ni byo by'ingenzi cyane ugomba kwitaho, kuko bishobora gushyira ubuzima mu kaga.

• Ushobora kubona umutima utera cyane cyangwa utera nabi (gutera cyane) iyo ushyize ikiganza cyawe ku gituza cy'umwana wawe.
• Gutakaza ubwenge mu buryo butunguranye (syncope) .

Ibi biterwa na:

• Guhagarara igihe kirekire hagati y'uko umutima utera. Abaganga babyita 'QT ndende'.
• Indwara z'umutima zivukanwa (inenge iri mu miterere y'umutima iboneka mu gihe cyo kuvuka) ishobora kugira ingaruka ku bushobozi bw'umutima bwo kupompa amaraso.
• Umutima utari umeze neza (arrhythmia) .
• Ibyumba byo hasi by'umutima (ventricles) bitera cyane (`ventricular tachycardia`) . Ibi ni bibi cyane.

Wibuke ko ibi bimenyetso bifitanye isano n'umutima bishobora gushyira ubuzima mu kaga . Ugomba kwitonda cyane kuko bishobora gutera umutima guhagarara mu buryo butunguranye (guhagarara k'umutima) cyangwa ndetse n'urupfu rutunguranye.

Ibiranga bifitanye isano n'imiterere y'umubiri

Abana barwaye indwara ya Timothy bafite imiterere yihariye y'umubiri igaragara igihe bavuka:

• Uruhu ruri hagati y'intoki rurafatanye (`cutaneous syndactyly`) . Nk'urw'igishuhe. Rushobora kubaho ku maboko no ku birenge byombi.
• Kugorora ikiraro kiri hagati y'izuru .
• Amatwi ashyirwa hasi ugereranyije n'ibisanzwe .
• Gukomeretsa umusaya wo hejuru .
• Kugabanya umunwa wo hejuru .
• Gusya amenyo no kugorama .
• Kutagira umusatsi, nk'aho ari umusatsi wo mu ivuka .

Ibimenyetso bigira ingaruka ku mikorere y'umubiri

Iyi ndwara kandi igira ingaruka ku bice by'ubwonko bw'umwana bigenzura zimwe mu ngingo z'umubiri. Kubwibyo, ushobora no kubona ibimenyetso nka:

• Gutinda mu mikurire n'ibibazo bijyanye n'imikorere y'ubwonko . Kuvuga no kugenda bishobora gutinda ugereranije n'abandi bana.
• Kwandura indwara kenshi . Kubera ubudahangarwa buke bw'umubiri, indwara zikwirakwira byoroshye.
• Isukari nke mu maraso (hypoglycemia) .
• Kugabanuka k'ubushyuhe bw'umubiri (hypothermia) .
• Indwara zo mu gicuri (izi zishobora kandi kwitwa igicuri cyangwa igicuri cyoroshye kubona urumuri) .
• Kugorwa no kuvugana n'abandi no kubana nabo (indwara ya autism spectrum) . Bashobora kumva ko bari mu isi yabo bwite.

Ni iki gitera indwara ya Timothy Syndrome?

Iyo turebye impamvu y'ibi, indwara ya Timothy iterwa n'uburyo gene ihinduka cyangwa impinduka mu gene `CACNA1C` . Iyi gene idutegeka gukora poroteyine ijyana iyoni za kalisiyumu mu turemangingo tw'umutima (cardiomyocytes) no mu turemangingo tw'ubwonko (neurons).

Tekereza, poroteyine ikorwa na gene ya `CACNA1C` imeze nk'urugi. Uru rugi rurakinguka kandi rugafunga, bigatuma atome za kalisiyumu zinjira kandi zigasohoka mu karemangingo. Iyo habayeho impinduka mu miterere y'uturemangingo, uru rugi rukomeza gukingurwa rudafunze neza . Hanyuma kalisiyumu ikomeza kwinjira mu karemangingo. Iyo iyi kalisiyumu nyinshi yirundanyije, ibimenyetso bya Timothy syndrome biragaragara, kandi zimwe mu ngingo z'umubiri ntizikora neza.

Izi atome za kalisiyumu ni ingenzi cyane ku mubiri wacu:

• Kugenzura imikorere y'amashanyarazi y'uturemangingo.
• Utunyangingo turakorana.
• Fasha imitsi gufungana.
• Ingirabuzimafatizo zigenzura ijyanye n'imikurire y'ubwonko n'amagufwa mu gihe cy'uruhinja.

Abaganga bapima iki kibazo gute?

Indwara ya Timothy ishobora gupimwa mbere cyangwa nyuma yo kuvuka .

• Mu gihe cyo gupima umwana akiri mu nda , muganga azasuzuma niba umutima w'umwana utera neza. Umutima utari mwiza ujyana na Timothy syndrome ni ugutera buhoro mu nda y'umwana uri mu nda (fetal bradycardia) .
• Nyuma yo kuvuka k'umwana, ikizamini cya `EKG` (Electrocardiogram) gishobora gukorwa kugira ngo harebwe uko umutima w'umwana uhagaze.

Byongeye kandi, ibi bizamini bifasha kwemeza iyi ndwara:

• Ibizamini bya genetiki kugira ngo hamenyekane gene itera ibimenyetso .
• Ibindi bizamini byo gufata amashusho (urugero: MRI, CT scan, X-ray) .
• Isuzuma rya muganga w'indwara z'umutima kugira ngo arebe ubuzima bw'umutima .
• Isuzuma rya muganga w’indwara z’imitsi kugira ngo arebe imikorere y’imitsi .
• Gupima amaraso kugira ngo harebwe niba hari ibindi bimenyetso .

Ni ubuhe buryo bwo kuvura ibi?

Intego nyamukuru yo kuvura indwara ya Timothy ni ukugenzura ibimenyetso bishobora gushyira ubuzima mu kaga bigira ingaruka ku mutima :

• Imiti igenzura umuvuduko w'umutima (urugero: `beta-blockers`) .
• Gukoresha icyuma gitera umutima guhindagurika (ICD) cyangwa pacemaker . Ibi bifasha kugarura umuvuduko w'umutima iyo ubaye nk'aho udasanzwe.

Byongeye kandi, hari uburyo bwo kuvura ibindi bimenyetso bishobora kugira ingaruka ku mwana:

• Gutanga imiti igabanya ubukana bw'indwara .
• Gukosora uruhu rufatana hagati y'intoki .
• Gukurikirana buri gihe urugero rw'isukari mu maraso .
• Kohereza abana muri gahunda z'uburezi bwihariye kugira ngo bifashe mu bibazo byo kwiga umwana .

Ese hari ingorane ziri mu kuvura?

Abana barwaye indwara ya Timothy syndrome baba bafite ibyago byinshi byo kurwara indwara z’umutima n’indwara z’umutima iyo bahabwa ikinya . Ibi ni ukuri cyane cyane ku miti igabanya igihe cyo kuvura indwara z’umutima (anesthesia) yongera igihe cyo kuvura indwara z’umutima (QT). Kubwibyo, ni ngombwa kubimenyesha muganga wawe mbere yo kubagwa.

Ese indwara ya Timothy Syndrome ishobora kwirindwa?

Indwara ya Timothy mu by'ukuri si ikintu gishobora kwirindwa.Kubera ko ibi biterwa n'impinduka mu ngirabuzimafatizo. Ushobora kubiragwa, cyangwa bigakura mu buryo butunguranye nta mateka y'umuryango.

Ariko, niba uteganya gutwita kandi ukaba ushaka kumenya ibyago byo kubyara umwana ufite indwara ya genetiki nka Timothy syndrome, ushobora kuvugana na muganga wawe ku bijyanye no kubagira inama ku genetiki no gupima genetiki .

Bigenda bite iyo umwana wanjye arwaye indwara ya Timothy Syndrome?

Nta muti uhari w'iki kibazo, ariko kuvura bishobora kugabanya ibimenyetso bishobora gushyira ubuzima bw'umwana mu kaga no kunoza ubuzima bwe .

Iteganyagihe ku bana bafite indwara zikomeye z'umutima si ryiza . Bitewe n'indwara nka arrhythmia cyangwa tachycardia y'imitsi, ibyago byo gupfa mu bwana ni hafi 80% . Ibi birababaje kubyumva, ariko ni ngombwa kumenya ukuri.

Ariko, mu bihe bidakabije bya sida ya Timothy, umusaruro ushobora kuba mwiza kurushaho .

Ni gute wakwita ku mwana ufite iyi ndwara?

Kubera ko ibimenyetso bya Timothy syndrome bishobora gushyira ubuzima mu kaga, ni ngombwa kujya kwa muganga w'umwana wawe buri gihe kugira ngo akurikirane ubuzima bwe muri rusange, cyane cyane ubuzima bw'umutima we . Gusuzumwa buri gihe bishobora gufasha kumenya no kuvura ibimenyetso bishya hakiri kare.

Niba umwana wawe afite ibibazo byo gukura cyangwa ibibazo byo kwiga, gahunda z'uburezi bwihariye cyangwa uburyo bwo kumufasha bushobora gufasha umwana wawe mu mirimo y'ishuri .

Ni ryari nkwiye kujyana umwana wanjye kwa muganga? Ni iki nakora mu gihe cyihutirwa?

Niba umwana wawe afite ibimenyetso bya sindrome ya Timothy, urugero nk'ubwandu, ingorane zo kugumana ubushyuhe bw'umubiri, cyangwa isukari nke mu maraso , menya neza ko wagiye kwa muganga.

Ibimenyetso bikomeye kurushaho, nko gucika intege no gutera umutima mu buryo butari bwo (cyane cyane iyo gutera umutima mu buryo bwihuta cyane cyangwa butari bwo) , bishobora gushyira ubuzima mu kaga kandi bigasaba ubuvuzi bwihuse . Ibi nibibaho, jya mu cyumba cy’ubutabazi bwihuse (ER) cyangwa uhamagare 911.

Ni ibihe bibazo ugomba kubaza muganga w'umwana wawe?

Ni byiza kubaza muganga w'umwana wawe ibibazo nk'ibi:

• Ese hari ingaruka mbi zishobora guterwa n'umuti wanditse?
• Ese umwana wanjye akeneye kubagwa?
• Ese umwana wanjye afite ubuzima bwiza buhagije bwo kubagwa?
• Ni gute nakurikirana ibimenyetso by'umwana wanjye?

Guhangana n'indwara idakunze kugaragara mu buryo bw'uturemangingo bishobora kugora ababyeyi bashya n'abana babo. Ni ngombwa gukurikirana ubuzima bw'umwana wawe neza, cyane cyane kugira ngo urebe niba uburyo bwo kuvura burimo kugabanya ibimenyetso no kongera igihe umwana wawe ashobora kumarana nawe. Mu gihe utekereza ku kwita ku mwana wawe, tekereza kuri wowe ubwawe n'umuryango wawe. Ni ngombwa kandi kuvugana n'umujyanama w'ubuzima bwo mu mutwe w'umuhanga kugira ngo ugabanye imihangayiko n'ihungabana, kandi umenye uko wafasha umwana wawe.

Ibuka ibi bintu (Ubutumwa bwo kujyana mu rugo)

Indwara ya Timothy ni indwara idakunze kugaragara cyane, ariko ikomeye cyane.

• Buri gihe ujye ubyitondera, kuko bigira ingaruka nyamukuru ku mutima .
• Ibimenyetso biratandukanye bitewe n'umwana .
• Gusuzuma umwana hakiri kare no kumuvura neza bishobora gutuma ubuzima bwe burushaho kuba bwiza.
• Ni ingenzi cyane gukurikiza inama za muganga no kudasiba ibizamini byateganyijwe .
• Ntabwo uri wenyine muri uru rugendo. Shaka ubufasha ku baganga, abajyanama, n'abakunzi .

` Indwara ya Timothy, indwara ya Timothy, indwara z’uturemangingo, indwara z’umutima, indwara z’abana, gutinda mu mikurire, gene ya CACNA1C, indwara zidasanzwe