Ese umwana wawe ararira nk'injangwe? Reka twige kuri Cri du Chat Syndrome.

Ese wigeze ubona ko abana bavutse rimwe na rimwe barira mu buryo budasanzwe? Nanone, hari igihe isura n'imikurire y'isura y'abana bamwe bisa nkaho bitandukanye gato. Uyu munsi tugiye kuvuga ku kibazo kimwe kidasanzwe ariko cy'ingenzi cyane tugomba kumenya. Icyo cyitwa 'Cri du Chat Syndrome'.

Indwara ya Cri du Chat ni iki?

Mu magambo make, indwara ya cri du chat syndrome ni indwara idakunze kugaragara mu buryo bw’uturemangingo. Iterwa no gukurwaho k’agace gato ka chromosome mu mubiri wacu. Ushobora kwibaza impamvu yitwa 'cri du chat'. Ni ijambo ry’igifaransa risobanura 'gurira kw’injangwe'. Iri zina rikomoka ku ijwi ryihariye abana bafite iyi ndwara bakora iyo barira. Ni ijwi ryo hasi, rirenga, nk’iry’injangwe iri kurira.

Ibi kandi byitwa '5p- syndrome' (syndrome ya 5p minus) . Uzi icyo ari cyo? Ibi bivuze ko dufite chromosome nimero ya 5, kandi igice cyitwa 'p' (ni ukuvuga ukuboko guto) ni cyo gice navuze kibura. Uburyo iyi syndrome ya '5p-' igira ingaruka kuri buri muntu bushobora gutandukana. Ni ukuvuga ko, bitewe n'ingano y'igice cya chromosome kibura n'aho kibura, hari abantu bashobora kugira ibimenyetso byinshi cyangwa bike. Niba iki gice kibura cyane ku bana bamwe, ibimenyetso bishobora kuba bikomeye kurushaho.

Ni mu rugero rungana iki ikibazo cyo kuganira kuri interineti?

Mu by’ukuri, indwara ya Cree du Chat ni indwara ikunze kugaragara cyane . Ariko, ni imwe mu ndwara zikunze kuvugwa cyane ziterwa n’imiterere mibi ya chromosomes. Tekereza, mu gihugu nka Amerika, ku bana 15,000 kugeza ku 50,000 bavutse bafite iyi ndwara, bivuze ko abana bagera kuri 50 kugeza kuri 60 ku mwaka bavukana iyi ndwara. Bityo rero, hari amahirwe yo kumenyekana muri Sri Lanka no muri iki gihe.

Ni ibihe bimenyetso by'indwara ya cri du chat?

Ibimenyetso by'iyi ndwara bishobora gutandukana cyane, nkuko nabivuze mbere. Ariko, ikimenyetso nyamukuru kandi gikunze kugaragara ni ukurira gukomeye, gukomeye. Ni nk'injangwe irira. Iri jwi rigaragara neza mu byumweru bike bya mbere nyuma yo kuvuka. Ariko, uko umwana agenda akura, imiterere y'iri jwi ishobora kugabanuka.

Byongeye kandi, umwana wawe ashobora kubona ibi bintu bidasanzwe mu maso :

• Ingano ntoya y'umutwe ugereranije n'isanzwe (microcephaly).
• Isura idasanzwe izengurutse.
• Izuru rigari.
• Intera iri hagati y'amaso ni nini kuruta isanzwe (hypertelorism).
• Amaso afite uruhu (strabismus).
• Ijisho ry'amaso rinamye rigana hasi (iminyururu ya palpebral).
• Kugira uruhu rwinshi mu mfuruka y'imbere y'ijisho (amaso y'ijisho).
• Amatwi ashyirwa munsi y’ibisanzwe.
• Umusaya muto udasanzwe (micrognathia).
• Hagati y'umunwa wo hejuru n'izuruUmusatsi mugufi udasanzwe.

Uko umwana akura, kuzura kw'isura bishobora kugabanuka, kandi isura ishobora kuba ndende kandi ifunganye mu buryo budasanzwe.

Izindi bimenyetso zishobora kugaragara harimo:

• Kubyara ufite ibiro bike.
• Kudindira mu mikurire.
• Kugorwa no kugaburira. Urugero, kudashobora konka neza, kugorwa no kumira (dysphagia), na reflux esophagitis (GERD).
• Ubukene bw'imitsi (hypotonia).
• Indwara ya Scoliose.
• Indwara z'umutima.
• Gutinda mu iterambere nko kugenzura umutwe, kwicara no kugenda.
• Gutinda mu kuvuga no mu bumenyi bw'ururimi.
• Ubumuga bwo mu mutwe buri hagati y’uburinganire n’uburemere.

Icy'ingenzi ni uko atari buri mwana wese uzagira ibi byose. Hari abana bashobora kugira bike muri byo.

Kuki iyi ndwara ya cri du chat ibaho?

Navuze ko indwara ya Cree du Chat ari indwara ya chromosome . Iterwa no gukurwaho k'igice cy'ukuboko gugufi (p arm) kwa chromosome nimero 5. Akenshi, uku gutakaza iki gice cya chromosome bibaho ku buryo butunguranye. Ni ukuvuga ko bibaho ku bw'amahirwe iyo uturemangingo tw'imyororokere (ni ukuvuga amagi cyangwa intanga) twa nyina cyangwa se twavutse, cyangwa mu gihe umwana akiri muto akura. Umwana ufite iyi ndwara bitewe no 'gusiba' ku buryo butunguranye ashobora kugira chromosome zisanzwe ziturutse ku babyeyi bombi. Ni ukuvuga ko akenshi idakomoka ku babyeyi bombi .

None se ibi ntabwo ari umurage w'ababyeyi?

Mu bihe byinshi (hafi 90 kuri 100), indwara ya Cree du Chat si umurage. Kubwibyo, ntabwo ishobora gushyirwa mu cyiciro cy’indwara ikomeye cyangwa iy’ihungabana. Abana bafite iyi ndwara ya 5p- akenshi ntibaba bafite amateka y’umuryango wabo.

Ariko, ijanisha rito cyane (hafi 10%) ry'abana bakura ubu busembwa bwa chromosomes buturutse ku mubyeyi udafite ikibazo. Uzi uko ibi bibaho? Uwo mubyeyi ashobora kuba afite ikintu cyitwa 'translocation ingana' muri chromosomes ze. Ibyo bivuze ko nta gihombo cyangwa ukwiyongera kw'uturemangingo tw'umubiri w'umubyeyi. Kubwibyo, abo babyeyi ubusanzwe nta kibazo cy'ubuzima bagira. Ariko, iyo ubu 'translocation ingana' umwana akura, bushobora kuba 'bungana'. Icyo gihe ni bwo umwana ashobora kugira iyi ndwara.

Ni gute indwara ya cre du chat syndrome ipimwa?

Ubusanzwe, muganga w'umwana wawe azakubona nyuma gato yo kuvuka.Iyi ndwara ishobora kuvurwa kuko muganga ashobora kubona ibintu nk'injangwe navuze mbere ndetse n'imiterere yihariye yo mu maso. Muganga azasuzuma umubiri wose kandi asuzume ibimenyetso by'umwana. Birashoboka cyane ko muganga azamusaba gupima chromosomes kugira ngo yemeze ko arwaye.

Ni ibihe bizamini biri gukorwa kuri ibi?

Hari ubwoko butatu bw'ingenzi bw'ibizamini by'uturemangingo (genetic) muganga w'umwana wawe ashobora gukoresha kugira ngo amenye indwara ya Cree du Chat:

• Ikizamini cya Karyotype: Iki gikoreshwa mu gukora ikarita y'uturemangingo tw'umwana. Iki gikoreshwa mu kureba niba igice cya chromosome kibuze cyangwa kibuze.
• Gupima AMAFI: AMAFI asobanura 'fluorescence in situ hybridization'. Iki kizamini gishakisha impinduka zihariye mu ngirabuzimafatizo cyangwa uduce twa gene mu tunyangingo tw'umwana.
• Isesengura rya microarray ya chromosome: Isesengura rya microarray ni ikizamini cya genetiki kigereranya ADN y'umwana na ADN y'itsinda rigenzura. Gishobora kumenya chromosomes zose, ibice bya chromosome, hamwe n'ibisiba n'ibindi bintu bingana ahantu runaka kuri chromosomes.

Ese cre du chat ishobora kuvurwa?

Ikibabaje ni uko nta muti uhari wo kuvura indwara ya cri du chat. Ariko, kuyimenya hakiri kare no kuyifata hakiri kare bishobora gufasha umwana wawe kugera ku bushobozi bwe bwose no kubaho ubuzima bufite intego. Ibyo nibyo by'ingenzi cyane.

Indwara ya cre du chat syndrome ivurwa ite?

Uburyo bwo kuvura indwara ya cri du chat syndrome buratandukanye bitewe n'umwana, kuko abantu bose badafite ibimenyetso bimwe. Ubu buryo bushobora gusaba ko habaho ubuvuzi buhoraho buturutse ku itsinda ry'abatanga serivisi z'ubuvuzi . Uburyo bukunze kugaragara ni ukuvura indwara yo kuruhuka. Ibi birimo nko kuvura umubiri, kuvura indwara zikomoka ku kazi, no kuvura indwara zo kuvuga.

Ubuvuzi bw'umubiri

Niba umwana wawe afite ibibazo byo kuryoherwa (urugero, kugorwa no konka cyangwa kumira), ugomba gutangira kuvura umubiri vuba bishoboka. Ubuvuzi bw'umubiri bufasha umwana wawe gukura neza mu mubiri. Ni ukuvuga ko bumufasha kwicara, guhaguruka, no kugira ubumenyi mu mikorere y'umubiri.

Ubuvuzi bw'akazi

Ubuvuzi bw'akazi bufasha umwana wawe guteza imbere ubumenyi akeneye kugira ngo ashobore kuvugana n'isi imukikije mu buzima bwa buri munsi. Ibi bishobora kuba birimo guteza imbere ubuhanga bwo gufata imitsi neza, ubuhanga bwo kureba, ubushobozi bwo kwiyitaho, n'ubushobozi bwo kumva.

Ubuvuzi bw'Imivugire

Ubuvuzi bw'imivugire bufasha mu bibazo by'itumanaho ry'umwana. Abavuzi b'imivugire bigisha abana uburyo butandukanye bwo kuvugana. Urugero, ururimi rw'amarenga , kuvugana hifashishijwe ikoranabuhanga, n'ibindi. Abavuzi b'imivugire bafasha no mu bibazo byo kurya kuva bakiri bato.

Uretse ubu buryo bwo kuvura, muganga w'umwana wawe ashobora kukugira inama yo kubagwa ku ndwara zitandukanye. Urugero, kubagwa bishobora gukosora indwara nk'ubumuga bw'umutima wavukanye, strabismus, na scoliosis.

Ese cre du chat ishobora kwirindwa?

Kubera ko indwara ya cri du chat ari indwara iterwa n’uturemangingo, ntabwo dushobora kuyikumira. Ariko, niba utwite umwana, ni byiza kuvugana na muganga wawe ku birebana n’ubujyanama ku ngirabuzimafatizo . Ubujyanama ku ngirabuzimafatizo bushobora kugufasha gusobanukirwa ibyago byo kugira umwana wawe indwara iterwa n’uturemangingo.

Umwana urwaye cri du chat amara igihe kingana iki?

Uko abana benshi barwaye indwara ya Cree du Chat bahagaze biragoye kandi bishobora gutandukana. Ingano n'aho igice cya chromosome 5 cyabuze kiri ni ingenzi mu kugena ahazaza h'umwana. Umwana wawe ashobora kuba afite ubumuga bumwe na bumwe mu mubiri no mu mutwe. Ariko, abana benshi barwaye Cree du Chat bafite igihe gisanzwe cyo kubaho.

Ariko, hari abana bavuka bafite ibibazo by'ubuzima bishobora gushyira ubuzima mu kaga. Abagera kuri 75% by'abo bana bapfa mu kwezi kwa mbere k'ubuzima bwabo. Abagera kuri 90% by'impfu ziba mu mwaka wa mbere w'ubuzima bwabo. Ariko, igipimo cy'impfu kigabanuka nyuma y'imyaka mike ya mbere y'ubuzima bwabo.

Mu kureba ahazaza h'uburwayi bw'umwana , kimwe mu bintu by'ingenzi ni ugusuzuma hakiri kare. Ibi bituma ubuvuzi n'imiti bikenewe bitangizwa vuba bishoboka kandi bigafasha umwana gutsinda.

Bishobora kugutera ubwoba kumenya ko umwana wawe afite indwara idakunze kugaragara mu buryo bw’uturemangingo. Ariko, kumenya iyi ndwara bishobora kuguha ubushobozi bwo kuyigenzura. Indwara ya Cre du Chat ni indwara ifite ibimenyetso bitandukanye. Iyo uyisuzumye hakiri kare kandi ukayivura neza, ushobora guha umwana wawe ibisubizo byiza bishoboka. Menya byinshi bishoboka kuri iyi ndwara kandi ushake amatsinda y’abaterankunga yo kugufasha. Iyo ugiye gufata ingamba hakiri kare kandi ugakomeza kuyivura, umwana wawe ashobora kugera ku bushobozi bwe bwose.

Amaherezo, ibintu byo kwibuka

Indwara ya Cri du Chat Syndrome ishobora kumvikana nk'idasanzwe, ariko ni ngombwa kuyimenya.

• Iyi ni indwara idakunze kubaho mu buryo bw'uturemangingo iterwa n'igice cya chromosome nimero 5 kibura.
• Ikintu nyamukuru kiranga ni induru idasanzwe isa n'injangwe.Muri icyo gihe, imiterere yihariye yo mu maso n'ubutinda bw'imikurire bishobora kugaragara.
• Ibi akenshi biba ari ibintu bihurirana, ntabwo ari ibintu byarazwe n'ababyeyi.
• Nubwo nta muti uhari, gusuzuma no kuvura hakiri kare nko kuvura umubiri, akazi, no kuvuga bishobora kuzamura cyane ubuzima bw'umwana.
• Ntabwo uri wenyine. Shaka ubufasha ku baganga, abaganga b'inzobere mu by'ubuvuzi, n'abandi babyeyi bahuye n'ibibazo nk'ibyo .

Buri mwana ni uw'agaciro, twese nimuze tumufashe guteza imbere ubushobozi bwe.

` Cri du Chat Syndrome, indwara z'uturemangingo, chromosomes, 5p minus, kurira kw'injangwe, gutinda mu mikurire, ubuvuzi bw'umubiri, ubuvuzi bwo kuvuga