Ese umwana wawe afite ikibazo gikomeye mu mikurire y'amagufwa ye? Reka twige kuri Thanatophoric Dysplasia!

Nk'umubyeyi utwite, wuzuye amatsiko n'urukundo kuri buri kimwe cyose kijyanye n'umwana wawe, sibyo? Ariko rimwe na rimwe, tugomba guhangana n'amagambo tutigeze twumva kandi ashobora gutera ubwoba gato. Uyu munsi, tugiye kuvuga ku ndwara idasanzwe ariko ikomeye cyane yitwa "Thanatophoric Dysplasia". Nubwo izina rishobora kumvikana nk'iry'urujijo, reka turyohere.

Dysplasia ya Thanatophoric ni iki?

Muri make, thanatophoric dysplasia ni indwara iterwa n’uturemangingo (gene) igira ingaruka ku mikurire y’amagufwa n’ibihaha by’umwana. Akenshi itangira umwana akiri mu nda.

Ijambo "thanatophoric" rikomoka mu Kigiriki cya kera. Risobanura "kuzana urupfu." Mu by'ukuri iryo zina riteye ubwoba gato. Impamvu ni uko abana benshi bavukanye iki kibazo baba bafite ibyago byinshi byo gupfa mbere yo kuvuka (bavutse bapfuye) cyangwa mu minsi mike nyuma yo kuvuka bitewe n'indwara zo guhumeka, kuko ibihaha byabo biba bitarakura neza.

Ariko, ni gake cyane , hagaragaye amakuru y'abana bavukanye iki kibazo bagakomeza kuba abana bakiri bato bavurwa cyane, cyane cyane iyo bananiwe guhumeka. Uku kunanirwa guhumeka ni igihe umubiri w'umwana udafite ogisijeni ihagije cyangwa ufite umwuka wa karuboni mwinshi.

Ese hari ubwoko bwa chondrodysplasia?

Yego, hari ubwoko bubiri bw'ingenzi bw'iyi ndwara butandukanywa hashingiwe ku itandukaniro riri mu mikurire y'amagufwa:

• Ubwoko bwa 1: Abana bafite ubu bwoko bw'indwara baba bafite amaguru magufi cyane , igituza gito cyane, amatako asa n'umuheto, n'urutirigongo rurerure (platyspondyly). Hari igihe amagufwa y'agahanga ahura vuba cyane (craniosynostosis). Ubu bwoko bukunze kugaragara kurusha ubwoko bwa 2. Tekereza nk'amaboko n'ibirenge by'igipupe, ariko ntibingana ugereranije n'ibindi bice by'umubiri.

• Ubwoko bwa 2: Ubu bwoko bw'uruhinja bufite amaguru magufi cyane n'igituza gito . Ariko, amagufwa y'ikibero aragororotse . Nanone, kubera ko imitsi yo mu gahanga ifunga vuba, ibibyimba bigaragara imbere no ku mpande z'umutwe. Ibi rimwe na rimwe byitwa "agahanga k'ikibabi cya clover" bitewe n'imiterere yabyo.

Iyi ndwara ikunze kugaragara gute?

Thanatophoric dysplasia ni indwara ikunze kugaragara cyane. Dukurikije imibare, hafi umwana umwe muri buri bana 20.000 bashobora kurwara iyi ndwara. Ibi bivuze ko atari ikintu kigaragara kenshi.

Ni ibihe bimenyetso bya dysplasia ya thanatophoric?

Kubera ko iyi ndwara igira ingaruka ku buryo ibihaha by'umwana, amagufwa ye n'ingingo ze bikura mu nda, ibimenyetso bikurikira bishobora kugaragara:

• Ibihaha ntibikura neza: Ibi biterwa n'imbavu ngufi n'umwobo muto wo mu gituza. Ibi biha umwanya muto ibihaha byo kwishima no gukura neza.
• Uruhu rwinshi rugaragara ku maboko no ku maguru.
• Umutwe munini, agahanga kagaragara, n'isura irambuye.
• Uburebure bugufi (skeletal dysplasia) n'amaguru magufi cyane (micromelia).
• Amaso manini.

Impamvu nyamukuru itera urupfu ku bana bavutse bafite iyi ndwara ni ukunanirwa guhumeka, bibaho iyo ibihaha bidakura neza. Ibi bituma umwana adashobora guhumeka neza.

Ni gake cyane, abana barokoka nyuma y’ubuto bwabo bashobora kugira ibindi bimenyetso:

• Gukura kudasanzwe kw'amagufwa.
• Kugorwa no guhumeka buri gihe.
• Kubura amatwi.
• Indwara nk'igicuri (ihungabana).

Impamvu ni iyihe?

Impamvu nyamukuru itera thalamophytic dysplasia ni impinduka mu ngirabuzimafatizo yitwa `FGFR3`. Iyi ngirabuzimafatizo ya `FGFR3` niyo itanga amabwiriza yo gukura no kubungabunga amagufwa mu mubiri w'umwana. Tekereza nk'urumuri mu mubiri wacu. Irafunguzwa iyo bikenewe kandi ikazima iyo akazi karangiye.

Ariko iyo habayeho impinduka muri gene ya `FGFR3`, biba nk'aho urumuri ruhagaze mu mwanya wa `on`. Hanyuma, poroteyine zigenzurwa n'iyi gene zikora cyane. Kubera iyo mpamvu, inzira ya `ossification`, inzira ituma amagufwa maremare, cartilage, ahinduka igufwa, iragabanuka. Mu magambo make, amagufwa ntakora neza.

Inshuro nyinshi za chondrodysplasia ziterwa n'impinduka nshya y'uturemangingo ibaho ku mwana. Ibi bivuze ko idakomoka kuri nyina cyangwa se. Ubusanzwe, nta muntu n'umwe mu muryango wigeze agira iyi ndwara mbere. Ariko, ni gake cyane , umwana ashobora kuragwa iyi mpinduka y'uturemangingo iturutse ku umwe mu babyeyi. Ibi byitwa "ishusho ya autosomal dominant".

Ibi bigira ingaruka kuri nde?

Thanatophoric dysplasia ishobora kugaragara ku mwana uwo ari we wese. Ibi biterwa nuko iyi mpinduka mu ngirabuzimafatizo ikunze kubaho ku buryo butunguranye. Nkuko byavuzwe mbere, ni gake cyane ivuka ku babyeyi.

Icy'ingenzi ni uko izi mpinduka mu ngirabuzimafatizo zidaterwa n'ikintu icyo ari cyo cyose umubyeyi yakoze igihe yari atwite. Rero, ntukiyitirire.

Ni gute indwara ya thanatophoric dysplasia ipimwa?

Iyi ndwara ikunze gupimwa umwana akiri mu nda. Mu gihe cyo gupima umwana utwite,Iyi ndwara irashobora gupimwa. Muganga wawe azagutanga inama ku bipimo bishobora kugaragaza indwara zitandukanye mu gihe utwite. Mu gihe cyo gupima, abaganga bareba ibimenyetso nko kwiyongera k'amazi yo mu nda akikije umwana (polyhydramnios) ndetse n'ibitagenda neza mu mikurire y'amagufwa.

Iyo, nyuma yo gupimwa, hagaragaye impinduka mu ngirabuzimafatizo ya `FGFR3`, abaganga bazafata ingamba zikenewe kugira ngo birinde ingorane zishobora kubaho mu gihe cyo gutwita.

Nyuma yo kuvuka k'umwana, hashobora gukorwa isuzuma rya X-ray ry'amagufwa ye ndetse n'isuzuma rya ultrasound ry'ingingo z'imbere, cyane cyane ibihaha , kugira ngo hamenyekane niba hari uburyo bwo guhumeka bukenewe.

Ni ubuhe bwoko bw'ibizamini bikorwa kuri ibi?

Mu gihe cyo gutwita, muganga wawe ashobora kukugira inama yo gusuzuma ibi bipimo nk'ibi kugira ngo amenye indwara z'uturemangingo:

• Amniocentesis: Ibi bikubiyemo gufata urugero ruto rw'amazi y'umura akikije umwana uri hagati y'ibyumweru 15 na 20 atwite no kuyapima kugira ngo hamenyekane indwara zitandukanye.
• Gupima Viliyonike (CVS): Muri ibi, hagati y'ibyumweru 10 na 13 byo gutwita, hafatwa ingero nto y'uturemangingo mu nyababyeyi hanyuma hagapimwa imiterere y'uturemangingo.

Indwara ya thanatophoric dysplasia ivurwa ite?

Abana barokoka nyuma yo kuvuka bazahita batangira kuvurwa kugira ngo bafashe ibihaha byabo bitarakura neza . Ibi bifasha umwana guhumeka neza. Ubu bufasha bwo guhumeka bushobora kuba bukubiyemo:

• Gushyira umuyoboro mu muyoboro w'amazi (tracheostomy).
• Gutanga ogisijeni y'inyongera binyuze mu mazuru (urugero: `Umuvuduko Uhoraho w'Impyiko` cyangwa `Imashini ya CPAP`).
• Gutanga imiti igabanya ububabare bw'imitsi.
• Gukoresha imashini (imashini ihumeka) kugira ngo ifashe mu gutanga umwuka mu bihaha.

Byongeye kandi, ubuvuzi bukoreshwa mu kugabanya ibindi bimenyetso by'iyi ndwara. Urugero:

• Gukoresha ibikoresho by'ubwubatsi bwo kumva ku bafite ubumuga bwo kutumva.
• Gutanga imiti igabanya ihungabana ry'igicuri.
• Kubagwa iyo bibaye ngombwa kugira ngo hakosorwe ibitagenda neza mu mikurire y'amagufwa.

Nubwo abana benshi basanzwe barwaye indwara ya thanatophoric dysplasia batarokoka, itsinda ry’abaganga rizakwigisha ibijyanye n’ibikoresho n’inkunga wowe n’abakunzi bawe mukeneye kugira ngo muhangane n’agahinda n’ihumure bizanwa n’iki kizamini. Ubujyanama ku bababaye, cyangwa ubujyanama ku bapfushije, ni uburyo bwo kugufasha guhangana n’iki kibazo gikomeye no guhangana n’iki gihe kigoye. Abahanga mu by’ubuzima bwo mu mutwe nabo barahari kugira ngo bagufashe guhangana n’agahinda kawe.

Ni iki wakwitega mu gihe umwana asanzwe afite ikibazo cyo kurwara indwara ya thanatophoric dysplasia?

Mu by’ukuri, imiterere y’abana basanzwe barwaye indwara ya thanatophoric dysplasia ntabwo ari nziza cyane. Impamvu nyamukuru ibitera ni uko ibihaha biba bidakuze neza. Igihe cyabo cyo kubaho ni gito cyane. Abana benshi bapfa bavutse bapfuye cyangwa mu byumweru bike bya mbere bavutse.

Abana barokoka nyuma yo kuvuka bakeneye kwitabwaho cyane kugira ngo bashyigikire ibihaha byabo kandi bahumeke neza. Akenshi baba bakeneye ubufasha bw'icyuma gifasha guhumeka mu bwana bwabo.

Kubura umwana ni ikintu kibabaza cyane kandi kigoye kwihanganira. Bishobora kugira ingaruka zikomeye ku mibereho yawe yo mu mutwe no ku byiyumvo byawe. Hariho serivisi z'ubufasha zigenewe ababyeyi bababaye n'abagize umuryango kugira ngo zibafashe guhangana n'iki kibazo.

Nagabanya nte ibyago by'umwana wanjye byo kurwara chondrodysplasia?

Kubera ko iyi ndwara ikunze guterwa n’impinduka nshya mu miterere y’uturemangingo ibaho ku buryo butunguranye, nta buryo bwo kwirinda indwara ya thanatophoric dysplasia. Niba uteganya gutwita, ganira na muganga wawe ku bijyanye no gupima imiterere y’uturemangingo kugira ngo usobanukirwe ibyago byo kubyara umwana ufite iyo ndwara.

Nitwara nte mu gihe umwana asanzwe arwaye indwara ya thanatophoric dysplasia?

Kumenya ko umwana wawe afite chondroplasia ni ibintu bigoye cyane kandi bibabaza. Itsinda ry'abaganga rizagufasha wowe n'abakunzi bawe guhangana n'iki gihe kigoye. Bazakurikirana kandi ubuvuzi kugira ngo wowe n'umuryango wawe mubeho neza uko bishoboka kose nyuma yo kubura umwana wanyu.

Niba wumva ubabaye, uhangayitse, wihebye, cyangwa wihebye, kandi ukaba ugorwa no kwihanganira kubura umwana, ni ngombwa guhamagara muganga wawe. Bashobora kukwerekeza ku muganga w’indwara zo mu mutwe cyangwa itsinda rishinzwe gufasha abapfushije. Aho, ushobora gusangira ibyiyumvo byawe n’abandi bahuye n’ibintu nk’ibyo. Kugira umuryango w’abagufasha hafi yawe bishobora kugufasha guhangana n’agahinda kawe.

Ni ryari ugomba kujya mu cyumba cy’ubutabazi bw’ibanze?

Niba umwana wawe wavutse afite ikibazo cyo guhumeka nabi , umutima utera nabi cyangwa ukagira ikibazo cyo kwihuta , cyangwa uruhu rukikije iminwa, umunwa n'intoki rugahinduka ubururu, umuhengeri, cyangwa rugasa n'umweru , ibi bishobora kuba ikimenyetso cy'ibibazo byo guhumeka no kubura umwuka mwiza. Hamagara 911 (cyangwa nimero y'ubutabazi yo mu gace utuyemo) ako kanya cyangwa ujye mu cyumba cy'ubutabazi kiri hafi yawe.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

• Ese nshobora gupimwa imiterere y'uturemangingo niba nteganya gutwita?
• Ese niba ngerageje kubyara undi mwana, hari amahirwe ko uwo mwana na we azarwara chondrodysplasia?
• Ni izihe nyandiko ushobora kunsaba kugira ngo zimfashe guhangana n'agahinda ko kubura umwana wanjye?

Nubwo wakora ibishoboka byose kugira ngo utwite neza, impinduka mu ngirabuzimafatizo zishobora gutera ingorane zishobora gushyira ubuzima bwawe mu kaga, nko kurwara indwara ya thyrotoxicosis. Muri iki gihe kigoye, ushobora kumva ubabaye, urakaye, utazi icyo ukora, udafite icyo ushoboye, cyangwa wabuze icyo ukora. Kubwibyo, ni ngombwa cyane kugira itsinda rigufasha. Ushobora guhumurizwa no kuvugana n'inzobere mu by'ubuzima bwo mu mutwe cyangwa kujya mu itsinda rigufasha. Itsinda ry'abaganga ryiteguye gusubiza ibibazo byawe byose no kugufasha kwihanganira iki kibazo.

Ibintu by'ingenzi cyane ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Indwara ya Thanatophoric dysplasia ni indwara igoye cyane, idakunze kugaragara kandi igoranye ku babyeyi. Kuyimenya bishobora gutera urujijo no gutera ubwoba.

Igikuru ni ukumenya ko utari wenyine. Abaganga, abaforomo, abajyanama, ndetse n'umuryango wawe n'inshuti barahari kugira ngo bagufashe muri iki gihe.

• Iyi ndwara ikunze guterwa n'impinduka mu buryo butunguranye mu miterere y'uturemangingo. Ibi bivuze ko atari wowe ubyiteye.
• Hari ibizamini byo gupima mbere yo gutwita bishobora kugaragaza iyi ndwara mu gihe cyo gutwita.
• Ubuvuzi bugamije ahanini gufasha umwana guhumeka no kugenzura ibimenyetso by'indwara.
• Ni ngombwa cyane gushaka inama ku bijyanye n'akababaro n'ubufasha mu by'ubuzima bwo mu mutwe mu gihe uhanganye n'ikibazo nk'iki.

Twizeye ko aya makuru yagufashije gusobanukirwa neza iki kibazo kigoye. Niba ufite ibindi bibazo, ntutindiganye kuvugana na muganga wawe.

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