Indwara ya Wolf-Hirschhorn Syndrome ni iki? Ese ishobora kugira ingaruka ku mwana wawe?

Ese wigeze wumva indwara y’uturemangingo yitwa Wolf-Hirschhorn Syndrome? Wenda wabonye ibimenyetso bimwe na bimwe ku mwana wawe kandi ntuzi neza icyo ari cyo. Niba ari uko bimeze, iyi nkuru izaba ingenzi cyane kuri wowe. Reka tubiganireho mu buryo bworoshye, mu buryo ushobora kumva. Ntutinye, kumenya ni intambwe ya mbere.

Ese indwara ya Wolf-Hirschhorn Syndrome ni iki mu by'ukuri?

Mu magambo make, indwara ya Wolf-Hirschhorn Syndrome ni indwara idakunze kugaragara mu buryo bw'uturemangingo . Iterwa n'impinduka nto mu mikorobozo mu turemangingo twacu. Tekereza nk'inyubako yubatswe hakurikijwe gahunda igoye. Iyi gahunda iri mu mikorobozo yacu. Imikorobozo ni imiterere ibika aya makuru mu mikorobozo.

Mu by’ukuri, iyi ndwara yitwa Wolff-Hirschhorn syndrome ibaho iyo habayeho gutakaza cyangwa gusiba ibintu bigize imiterere y’uturemangingo ku mpera y’akaboko gato ka chromosome 4, kaba mu turemangingo twacu twose. Niyo mpamvu rimwe na rimwe kitwa '4p- syndrome'. Inyuguti 'p' isobanura ukuboko kugufi kwa chromosome.

Iyi mpinduka mu ngirabuzimafatizo ishobora kugira ingaruka ku bice bitandukanye by'umubiri w'umwana, cyane cyane umutima n'ubwonko . Ishobora kandi gutuma bamwe mu bana bagira ibisebe. Abana bafite iyi ndwara bashobora kugira imiterere imwe n'imwe mu maso. Urugero, intera iri hagati y'amaso ni nini kuruta isanzwe, agahanga kaba kanini, n'umutwe ukaba muto kuruta isanzwe. Si ibyo gusa, ishobora no kugira ingaruka zikomeye ku mikurire y'ubwenge bw'umwana n'imikurire ye y'umubiri .

Ni nde urebwa cyane n'iki kibazo?

Kubera ko indwara ya Wolff-Hirschhorn ari indwara iterwa n’uturemangingo, ishobora kuba kuri buri wese . Kenshi na kenshi, ntabwo iravukanwa. Ibi bivuze ko idahererekanywa kuva ku mubyeyi kugeza ku mwana. Kenshi na kenshi, iyi ndwara iterwa n’impinduka za chromosome (de novo) mu buryo butunguranye . Ibi bishobora kubaho haba mu gihe cy’iterambere ry’uturemangingo tw’igi rya nyina, cyangwa mu gihe cy’iterambere ry’uturemangingo tw’intanga ngabo za se, cyangwa mu ntangiriro z’uruhinja. Iyo iri hinduka rya "de novo" ribaye, nta muntu n’umwe mu muryango ugomba kuba yarigeze kugira iyi ndwara mbere.

Ariko, ubushakashatsi bwagaragaje ko abakobwa bafite amahirwe make yo kurwara iyi ndwara kurusha abahungu.

Indwara ya Wolff-Hirschhorn ikunze kugaragara gute?

Iyi ni indwara idakunze kugaragara . Dukurikije imibare, hafi umwana umwe mu bavutse 50.000 ni we uyirwaye.Bivugwa ko iyi ndwara yibasira abantu bagera ku 100.000 gusa. Ariko, iyi ngero ishobora kuba idakwiye kwitabwaho. Hari abana bashobora kutamenya neza indwara yabo kuko ibimenyetso byabo ari bike cyane ku buryo bashobora kuba badafite iyo ndwara. Cyangwa se, ibimenyetso bishobora gufatwa nk'ibimenyetso by'indi ndwara y'uturemangingo.

Ni ibihe bimenyetso by'indwara ya Wolff-Hirschhorn?

Ibimenyetso bya Wolff-Hirschhorn syndrome bishobora gutandukana bitewe n'umwana, kandi ubukana bwabyo bushobora gutandukana . Ibi bimenyetso bigira ingaruka ku bice bitandukanye by'umubiri w'umwana.

Ibintu byihariye bigaragara ku maso

Hari ibimenyetso bimwe na bimwe by’isura bishobora kugaragara ku bana bafite iyi ndwara. Muri byo harimo:

• Iminwa ipfutse cyangwa iminwa ipfutse: Hari abana bashobora kuvuka bafite iminwa ipfutse cyangwa iminwa yo hejuru.
• Imiterere y'isura idahuje: Ibi bivuze ko impande z'iburyo n'iz'ibumoso z'isura zidasa, kandi hashobora kubaho itandukaniro mu bunini cyangwa imiterere.
• Ikiraro cy'izuru kirambuye: Igice cyo hejuru cy'izuru gishobora kuba kirambuye.
• Agahanga kerere: Agace k'agahanga gashobora kuba kari hejuru kuruta uko bisanzwe.
• Amatwi make cyangwa afite imiterere mibi: Amatwi ashobora kuba ari hasi ugereranyije n'ibisanzwe cyangwa hakagira impinduka mu miterere y'udutsi two mu matwi.
• Amenyo abura cyangwa adasanzwe: Amenyo amwe ashobora kutagaragara cyangwa hashobora kubaho imiterere y'amenyo.
• Agasaya gato (micrognathia): Agasaya gato gashobora kuba gato ugereranyije n'ibisanzwe.
• Umutwe muto: Umutwe ushobora kuba muto kuruta ibisanzwe.
• Amaso manini kandi abyimbye: Umwanya uri hagati y'amaso uriyongereye, kandi amaso ashobora kugaragara nk'anini gato kandi abyimbye. Ibi rimwe na rimwe byitwa "ishusho y'ingofero y'intwari y'Abagereki," ariko ntibisa kuri bose.

Ibiranga iterambere n'iterambere

Iyo umwana akiri mu nda, agenda akura buhoro buhoro . Ibi bishobora guteza ibibazo bimwe na bimwe mu gihe cyo kuvuka:

• Intege nke z'imitsi (hypotonia) cyangwa imitsi idakura neza: Umwana ashobora kuba afite umubiri urembye kandi urembye. Ibi bishobora guterwa n'uko imitsi iba itarakura neza.
• Intambwe zo gukura zitinda: Kimwe n'abandi bana bato, bifata igihe kugira ngo ibintu nko gukomeza ijosi, kuzunguruka, kwicara, guhagarara no kugenda bibeho.
• Ingorane zo kugaburira: Ibintu nko kunanirwa konka cyangwa kugorwa no kumira ibiryo bishobora kubuza umwana kubona intungamubiri akeneye.
• Kugorana kwiyongera ibiro: Bitewe n'izi ngorane zo kugaburira, kwiyongera ibiro k'umwana bigenda buhoro.

Bitewe n'ubu buryo bwo gukura no gutinda, umwanaBishobora kandi gutera kuba mugufi .

Ibimenyetso bifitanye isano n'ubwonko

Abana bavukanye indwara ya Wolff-Hirschhorn bashobora kuba bafite ubumuga bwo mu mutwe . Ibi bishobora kuba byoroshye kuri bamwe ndetse bikaba bikomeye ku bandi. Ubushakashatsi bwagaragaje ko aba bana bashobora kuba bafite ubuhanga bwo gusabana n'abandi, ariko bashobora kugira ibibazo mu rurimi no mu itumanaho . Ibi bivuze ko nubwo bashobora kuba bashobora guseka no gukina n'abandi, bashobora kuba bafite ingorane zo kwisobanura mu magambo no mu kuvuga.

Nanone, aba bana bashobora kugira ibibyimba mu bwana bwabo . Hari igihe ibi bibyimba bishobora kudakira kuvurwa. Ariko, uko umwana agenda akura, inshuro ziterwa n'ibi bibyimba zishobora kugabanuka cyangwa zikanashira burundu.

Ibimenyetso bigira ingaruka ku zindi ngingo z'umubiri

Indwara ya Wolff-Hirschhorn ishobora no kugira ingaruka ku bindi bice by'umubiri w'umwana:

• Kugorama k'umugongo (scoliosis cyangwa kyphosis): Indwara nko kugorama k'uruhande cyangwa kunama k'umugongo (kyphosis) zishobora kubaho.
• Uruhu rwumye: Uruhu rushobora kuma igihe cyose.
• Ingorane z'imikurire y'umutima (atrial septal defect): Indwara z'umutima zivukana nko kuba hari umwobo mu rukuta ruri hagati y'atrial y'umutima zishobora kubaho.
• Kubura ubudahangarwa bw'umubiri: Bitewe n'ubushobozi buke bw'umubiri bwo kurwanya indwara, indwara zishobora kugaragara kenshi.
• Ibibazo by'imikorere y'impyiko: Imikorere y'impyiko ishobora kugira ingaruka.
• Ibibazo ku nzira y'inkari n'imyanya myibarukiro (inzira y'uburinganire): Hari ibibazo bimwe na bimwe ku nzira y'inkari cyangwa imyanya myibarukiro bishobora kubaho.
• Ibibazo byo kureba: Hari ibibazo bimwe na bimwe byo kureba bishobora kubaho.

Kuki indwara ya Wolff-Hirschhorn ibaho?

Nkuko twabiganiriyeho mbere, impamvu nyamukuru itera indwara ya Wolff-Hirschhorn ni ukubura (gusiba) igice cy'uturemangingo tw'umubiri ku kaboko gato ka chromosome 4 (4p) . Uku kubura igice cya chromosome bibaho haba mu gihe cy'iremwa ry'intanga ngore ya nyina cyangwa intanga ngore ya se, cyangwa mu ntangiriro z'ivuka ry'umwana. Muri iki gihe, iyo uturemangingo tw'imyororokere twigabanyijemo kabiri, chromosome ntizikoperwa neza, maze igice cya chromosome kiracika kikabura.

Ni gake cyane, indwara ya Wolff-Hirschhorn ishobora guterwa n’indwara yitwa chromosome y’impeta . Ibi bibaho iyo chromosome icitse ahantu habiri maze impera ebyiri zacitse zigahurira hamwe zigakora ishusho isa n’impeta. Iyo ibi bibaye, igice cya chromosome kiracika kikavanwaho.

Iyo umwana atakaje igice cya chromosome ye, uturemangingo two muri urwo ruhande ntitwongera kubona amabwiriza akenewe kugira ngo twubake umubiri. Ibyo nibyo bitera ibimenyetso bya Wolff-Hirschhorn syndrome. Ingano y'igice cya chromosome kibuze ishobora gutandukana bitewe n'umuntu. Iyo umwana abuze igice kinini cya chromosome ye ya kane, ibimenyetso bishobora kuba bikomeye kurushaho.

Ese ibi ni ibintu bikomoka ku bisekuruza?

Akenshi (hafi 90%) ibi biterwa n'impinduka mu buryo butunguranye, "de novo" igaragara vuba, ariko mu kigero gito cyane (hafi 10-15%) ishobora kuragwa n'umubyeyi umwe . Muri ibyo bihe, umwe mu babyeyi (ubusanzwe ni nyina) ashobora kugira ikibazo cyitwa "balanced translocation ".

Mu magambo make, guhinduranya ibice ni igihe chromosome ebyiri cyangwa nyinshi mu muntu zicitsemo ibice, ibice bigahinduranya, hanyuma zikongera gufatana mu buryo butandukanye. Abantu bafite ubu bwoko bwa "translocation ingana" akenshi nta kibazo cy'ubuzima baba bafite kandi baba bafite ubuzima bwiza. Ariko, iyo babyaye abana, baba bafite amahirwe menshi yo kwanduzanya ibice by'ibice ...

Ni gute wasuzuma iyi ndwara neza?

Muganga wawe ashobora gukeka ko afite indwara ya Wolff-Hirschhorn mu bwana bwe, cyane cyane iyo abonye ibimenyetso nk'ibi:

• Ibintu byihariye ku maso
• Ibibazo by'imikurire
• Gutinda mu iterambere
• Gutitira

Niba ufite kimwe cyangwa byinshi muri ibi bimenyetso, muganga nta kabuza azakora iperereza rirambuye.

Ni ibihe bipimo byemeza ko umuntu arwaye indwara?

Uburyo bw'ingenzi bwo kwemeza ko umuntu yanduye ni ugupima imiterere y'umubiri . Ibi byitwa ikizamini cya microarray cya chromosome . Ibi bikorwa kugira ngo hamenyekane n'impinduka ntoya mu mikorobozo y'umwana. Iki kizamini gishobora gukoresha icyitegererezo cy'amaraso, icyitegererezo cy'amacandwe, cyangwa agatambaro ko mu itama. Bakoresheje iki cyitegererezo, abaganga basuzuma ADN y'umwana.

Iyo iki kizamini cyemeza ko igice runaka cya chromosome 4, ni ukuvuga agace kitwa 4p16.3, cyakuweho , umwana afatwa na Wolff-Hirschhorn syndrome.

Urimo gukora iki nk'ubuvuzi?

Kubera ko indwara ya Wolff-Hirschhorn ari indwara iterwa n’uturemangingo, nta muti wayo uhari . Ariko,Hari uburyo butandukanye bwo kuvura bushobora gufasha mu kugenzura ibimenyetso no gufasha umwana kubaho neza uko bishoboka kose. Ubuvuzi butegurwa hashingiwe ku bimenyetso byihariye bya buri mwana.

Uburyo bw'ingenzi bwo kuvura ni ubu bukurikira:

• Kubagwa: Kubagwa bishobora kuba ngombwa kugira ngo hakosorwe ibintu bimwe na bimwe bitagenda neza mu mikurire y'umwana, cyane cyane ibibazo by'umutima (nk'ubumuga bw'uturemangingo tw'amaraso mu nda).
• Ubuvuzi bw'umubiri cyangwa ubuvuzi bw'akazi: Ubu buvuzi bufasha guteza imbere imbaraga z'imitsi, kubungabunga uburinganire, no gutoza gukora imirimo ya buri munsi ku giti cyawe.
• Gahunda z'uburezi bwihariye: Gahunda n'ingamba z'uburezi bwihariye bikoreshwa mu gufasha umwana iterambere ry'ubwenge n'ubushobozi bwe bwo kwiga.
• Umuti: Imiti itangwa kugira ngo igabanye ibicurane.

Uretse ibi byose, bishobora kuba ingirakamaro cyane ku muryango wawe kubona inama ku bijyanye n'imiterere y'umubiri . Abajyanama mu by'imiterere y'umubiri bashobora kugufasha gusobanukirwa neza uburwayi bw'umwana wawe, ndetse bakakwigisha uburyo bwo gufasha umwana wawe n'ibibazo ashobora guhura na byo mu gihe kizaza.

Ni ubwoko ki bw'inzobere nkwiye gushaka ubuvuzi?

Umwana urwaye indwara ya Wolff-Hirschhorn azakenera kubonana n'inzobere zitandukanye mu bwana bwe bwose. Ibi ni ukugira ngo akurikirane ubuzima bwe n'uko ibimenyetso bigira ingaruka ku buzima bwe. Nyuma yo kumusuzuma, akenshi azakenera ibizamini n'inama z'inzobere nka:

• Umuganga w’indwara z’imitsi: Agenzura imikorere y’ubwonko n’indwara nk’iz’igicuri.
• Inzobere mu ndwara z'umutima: Isuzuma ry'ibibazo by'umutima.
• Muganga w'amenyo: Buri gihe shyira umutima ku buzima bw'amenyo yawe.
• Muganga w'amaso: Areba ibibazo byo kutabona neza.

Umuganga w’ibanze wita ku mwana wawe, cyangwa umuganga w’umuryango, ashobora kandi kukugira inama yo gupima amaraso buri gihe kugira ngo ukurikirane ibintu nk’imikorere y’impyiko z’umwana wawe mu gihe cyo gusuzumwa buri mwaka.

Ese hari uburyo bwo gukumira iki kibazo?

Nkuko twabiganiriyeho mbere, indwara ya Wolff-Hirschhorn ikunze guterwa n’impinduka mu miterere y’uturemangingo (genetic mutation) itunguranye kandi igaragara vuba . Kubwibyo, nta buryo bwo gukumira iyi ndwara. Ariko, mu bihe bidasanzwe, abana bamwe bashobora kuragwa iyo ndwara n’ababyeyi babo. Niba ufite amateka y’indwara z’uturemangingo mu muryango wawe, cyangwa niba ushaka kumenya ibyago byo kuba umwana wawe yarazwe indwara y’uturemangingo, ni byiza kuvugana na muganga wawe ku bijyanye no gupima imiterere y’uturemangingo no gutanga inama ku miterere y’uturemangingo .

Niba umwana afite indwara ya Wolff-Hirschhorn, ni iki gishobora kwitegwa?

Nubwo nta muti uhari wa Wolff-Hirschhorn syndrome, kuvura ibimenyetso by'umwana bishobora kumugeza ku musaruro mwiza no kumushyigikira akeneye kugira ngo agire ubuzima bwiza kandi bushimishije uko bishoboka kose.

Igipimo cy’uko umuntu urwaye iyi ndwara giterwa n’uburemere bw’ibimenyetso bye . Ibimenyetso, cyane cyane bigira ingaruka ku mutima no ku bwonko, bishobora kugabanya igihe cyo kubaho. Ariko, iyo ubuvuzi n’ubuvuzi bukwiye bivurwa neza, abana benshi bavukanye iyi ndwara bararokoka kugeza bakuze .

Ni ryari ukwiye kujya kwa muganga?

Niba umwana wawe afite kimwe muri ibi bimenyetso, hita ubonana na muganga:

• Igikomere kitarakira (niba igikomere cyaracitse kandi kikaba gitanga amazi asa n'ibibyimba byera cyangwa umuhondo).
• Indwara zikunze kugaragara nk'ibicurane (umuriro, inkorora, kubabara mu muhogo) no kudashobora gukira byoroshye.
• Intambwe z'iterambere zatinze.
• Kutarya buri gihe.
• Umutima utari mwiza, guhumeka nabi, cyangwa umunaniro ukabije (ibi bishobora kuba ibimenyetso by'indwara y'umutima nka atrial septal defect).

Ibihe aho umuntu agomba gushaka ubuvuzi bwihutirwa

Umwana wawe urwaye indwara ya Wolf-Hirschhorn ashobora kurwara indwara yo gucika intege . Iyo umwana agize igicuri, ashobora guhura n'ibi bikurikira:

• Gutakaza ubwenge by'igihe gito mu gihe kiri hagati y'amasegonda 30 n'iminota ibiri.
• Kunyeganyega kw'ingingo (gucurama) mu buryo butunguranye.

Niba habayeho ikintu nk'iki, hamagara 1990 ako kanya cyangwa ujyane umwana mu Kigo cyita ku Buvuzi bwihutirwa (ETU) kiri hafi yawe.

Ibibazo by'ingenzi ugomba kubaza muganga wawe

Bishobora kugorana cyane kumenya ko umwana wawe afite indwara ya genetiki nka Wolf-Hirschhorn syndrome. Ariko, ni ngombwa kuganira na muganga wawe ku kibazo cyangwa impungenge ushobora kuba ufite muri iki gihe. Ushobora kubaza ibibazo nka:

• Ese hari ingaruka mbi zishobora guterwa n'imiti yagenewe umwana?
• Indwara y'umwana wanjye ikomeye gute?
• Ni iki nakora mu gihe umwana wanjye yatinze kugera ku ntambwe z'iterambere?
• Ese umwana wanjye akeneye kubonana n'abandi bahanga?
• Ese dushobora kubona inama ku bijyanye n'uturemangingo? Ni ubuhe bufasha bizaduha?

Amaherezo, ibintu ugomba kwibuka

Kumenya ko umwana wawe afite indwara ya genetiki nka Wolf-Hirschhorn Syndrome bishobora kuba ikibazo gikomeye. Ariko ibuka ko utari wenyine. Nubwo ibimenyetso by'iyi ndwara bishobora guhindura ubuzima, muganga wawe azaguha gahunda yo kuvura. Kandi, afatanyije n'abandi bahanga, bazafasha umwana wawe kubaho ubuzima bwiza kandi bushimishije.

Igikuru ni ukumenya neza uko umwana wawe amerewe no kumuha ubufasha bukenewe. Kubona inama ku bijyanye n'imiterere y'umubiri bizaguha imbaraga nyinshi muri uru rugendo. Hanga iki kibazo nta bwoba, ufite ubwenge bukomeye. Tukwifurije amahirwe masa wowe n'umwana wawe!

Indwara ya Wolf -Hirschhorn, indwara z’uturemangingo, chromosomes, chromosome 4, 4p- syndrome, gutinda mu mikurire, imiterere yo mu maso, gukubita, ubujyanama ku ngirabuzimafatizo