Ese nawe ufite ikibazo cyo kutumva bitewe n'impinduka mu ruhu, umusatsi n'ibara ry'amaso? Reka tuvuge kuri ibi (Waardenburg Syndrome)!

Hari igihe ushobora kuba warabonye ko mu bantu bacu, hari abantu bafite imisatsi y'umweru kuva bakiri bato, cyangwa abantu bafite ijisho rimwe ry'ubururu n'irindi ry'umukara. Hari abantu bafite ibibazo byo kutumva kuva bakiri bato. Hari igihe hashobora kuba hari impamvu y'uturemangingo inyuma y'ibintu nk'ibyo tutazi. Iyo ni imwe mu ndwara zidasanzwe tugiye kuvugaho uyu munsi (Waardenburg Syndrome) . Ntutinye, tuzabivugaho mu buryo bworoshye, mu buryo ushobora kumva.

Indwara ya Waardenburg ni iki? Muri make ...

Noneho reka turebe icyo iyi (Waardenburg Syndrome) ari cyo. Iyi ni indwara iterwa n'impinduka mu turemangingo mu mubiri wacu. Mu by'ukuri, iyi ndwara ishobora guhindura ibara (ibara ry'umusatsi wawe, amaso, n'uruhu . Si ibyo gusa, ahubwo hari n'abantu bashobora kugira ubumuga bwo kutumva buterwa na yo. Hari ubwoko bune bw'ingenzi bw'iyi ndwara (Waardenburg Syndrome). Ubwo bwoko buterwa n'impinduka zitandukanye (mutations) mu turemangingo dutandatu. Buri bwoko bufite imiterere yihariye.

Ninde urwara Syndrome ya Waardenburg?

Kubera ko iyi ari indwara iterwa n’uturemangingo, ishobora kugira ingaruka ku muntu uwo ari we wese. Akenshi, umwana aragwa iyi gene ikomoka kuri nyina cyangwa se. Mu buvuzi, iyi gene yitwa "autosomal dominant" . Muri icyo gihe, umubyeyi utanga iyo gene akenshi na we aba afite iyo ndwara. Tekereza, niba nyina cyangwa se bafite iyo mico, umwana na we ashobora kuyibona.

Ariko, rimwe na rimwe indwara ya Waardenburg Syndrome yo mu bwoko bwa II na IV ishobora kwandurira mu bwoko bwa ``autosomal recessive`` . Ibi bivuze ko ababyeyi bombi bagomba kuba ari bo batwara iyo gene yanduye, ariko nta bimenyetso bafite. Ariko, iyo ababyeyi bombi bahaye umwana wabo iyo gene, umwana ashobora kuyirwara.

Ni gake cyane, iyi ndwara ishobora kugaragara ku muntu udafite amateka y'umuryango, bitewe n'impinduka nshya mu miterere y'uturemangingo.

Ibi ni ibisanzwe gute?

Indwara ya Waardenburg ifata umuntu umwe kuri buri bantu 40.000 . Inatera hagati ya 2% na 5% by'abantu bavukanye batabasha kumva neza.

Nigute Syndrome ya Waardenburg igira ingaruka kumubiri wanjye?

Impinduka mu miterere y’uturemangingo zitera ibi zishobora kugira ingaruka ku buryo wumva . Hari abantu bafite ubushobozi bwo kumva busanzwe, ariko abandi bavukana ikibazo gikomeye cyo kutumva (congenital). Izi ngirangingo zishobora kandi guhindura imiterere y’amaso yawe, uruhu, n’umusatsi . Ushobora kuba ufite amaso abiri cyangwa menshi atandukanye y’amabara. Iyi ndwara ishobora gutuma ibice bimwe by’uruhu rwawe biba byoroshye kurusha ibindi, umusatsi wawe ugahinduka ibara, n’umusatsi wawe ugahinduka imvi, cyane cyane mu gihe ukiri muto cyane .

Ni ibihe bimenyetso by'indwara ya Waardenburg?

Ibimenyetso by'iyi ndwara biratandukanye bitewe n'umuntu ku giti cye. Bishobora gutandukana ndetse no mu muryango umwe. Ibimenyetso by'ingenzi ni ukubura amatwi no guhinduka kw'ibara ry'umusatsi, uruhu, n'amaso. Byongeye kandi, hari ibimenyetso byihariye bitewe n'ubwoko bwa Waardenburg Syndrome. Urugero, mu bwoko bwa 1, intera iri hagati y'amaso irazamuka, mu bwoko bwa 3, ibitagenda neza mu ntoki no mu ntoki, naho mu bwoko bwa 4, indwara yo mu mara yitwa Hirschsprung disease .

Ubumuga bwo kutumva

Bamwe mu bantu barwaye indwara ya Waardenburg Syndrome bashobora kugira ikibazo cyo kutumva gikabije cyangwa gikabije mu matwi amwe cyangwa yombi. Ariko, hari igihe kutumva bishobora kutagerwaho na gato. Uku kubura amatwi ni ikintu umuntu avukana .

Ibimenyetso by'ibara ry'uruhu

Indwara ya Waardenburg ishobora gutera impinduka mu musatsi wawe, uruhu, n'ibara ry'amaso, nko:

• Amaso yoroheje cyane, y'ubururu.
• Afite amaso abiri y'amabara abiri. Tekereza, rimwe ry'ubururu irindi ry'umukara.
• Heterochromia irides ni impinduka mu ibara ry'igice cy'ijisho (iris) ndetse no mu jisho rimwe.
• Kuba hari agahu k'umusatsi cyangwa agahu k'umweru mu musatsi, akenshi hejuru y'agahanga (ingunzu).
• Gutera imvi ku musatsi ukiri muto cyane.
• Kugira utudomo cyangwa uduce duto ku ruhu tworoheje kurusha utundi duce (congenital leukoderma) .

Ni ubuhe bwoko bwa Syndrome ya Waardenburg?

Hari ubwoko bune bw'ingenzi bwa Waardenburg Syndrome. Muganga azasuzuma ubwo bwoko akurikije ibimenyetso byawe.

• Ubwoko bwa I: Intera iri hagati y'amaso ni nini cyane, kandi ikiraro cy'izuru ni kinini.
• Ubwoko bwa II: Kubura amatwi mu buryo buri hagati kugeza ku bunini.
• Ubwoko bwa III - Nanone bita "syndrome ya Klein-Waardenburg": gutakaza amatwi, impinduka mu ibara ry'uruhu, n'ibitagenda neza mu mikurire y'amagufwa y'amaboko n'intoki.
• Ubwoko bwa IV - Buzwi kandi nka Waardenburg-Shah syndrome: Hamwe n'ibindi bimenyetso byose bya Waardenburg syndrome, hari n'indwara yitwa Hirschsprung disease . Ibi bishobora gutera impatwe cyangwa kuziba amara cyane.

Muri izi, ubwoko bwa I na II ni bwo bukunze kugaragara cyane. Ubwoko bwa III na IV ni gake cyane.

Ni izihe mpamvu zitera indwara ya Waardenburg?

Indwara ya Waardenburg iterwa n'impinduka mu miterere y'uturemangingo tubiri muri utu duto dukurikira:

• `(EDN3)` (ku bwoko bwa IV)
• `(EDNRB)` (ku bwoko bwa IV)
• `(MITF)` (ku bwoko bwa II)
• `(PAX3)` (ku bwoko bwa I na III)
• `(SNAI2)` (ku bwoko bwa II)
• `(SOX10)` (ku bwoko bwa IV)

Izi ngirabuzimafatizo nizo zirema ubwoko butandukanye bw'uturemangingo mu mubiri wacu. Muri zo, ubwoko bwihariye bw'uturemangingo bwitwa "melanocytes" bugizwe n'utwo turemangingo. Utu turemangingo dukora ibara rya "melanin pigment" riha uruhu rwacu, umusatsi n'amaso.Uretse gukora ibara ry'uruhu, izi selile zifasha no mu mikorere y'igice cy'imbere cy'ugutwi kwacu. Bityo rero, iyo habayeho impinduka muri buri ngirabuzimafatizo, bishobora gutera ibi bimenyetso.

Indwara ya Waardenburg isuzumwa ite?

Muganga w'umwana wawe ashobora gusuzuma indwara ya Waardenburg Syndrome akivuka cyangwa akiri umwana muto . Azakora isuzuma ry'umubiri kugira ngo arebe ibimenyetso n'amateka y'ubuzima bw'umuryango wawe. Muganga wawe ashobora kandi kukugira inama yo gupima imiterere y'umubiri kugira ngo yemeze ko yanduye no gushaka ibindi bimenyetso bifitanye isano n'iyi ndwara, nka:

• Isuzuma ry'amaso.
• Ikizamini cyo kumva .
• Bitewe n'ubwoko bw'ibimenyetso, ibizamini byo gufata amashusho bishobora gukorwa ku gutwi imbere, ku maboko no ku ntoki, cyangwa mu mara.

Indwara ya Waardenburg ivurwa ite?

Si ubwoko bwose bwa Waardenburg Syndrome bukenera kuvurwa. Ariko, iyo hari ibimenyetso, bivurwa uko bikenewe. Urugero:

• Gukoresha ibikoresho by'ubwubatsi bwo kumva cyangwa kubagwa implant ya cochlear kubera ubumuga bwo kutumva.
• Gukoresha amavuta akingira izuba kugira ngo urinde ahantu hahinduka ibara ry'uruhu bitewe n'izuba .
• Niba ufite impatwe (cyane cyane ubwoko bwa IV), fata imiti cyangwa indyo irimo fibre nyinshi .
• Kubagwa kugira ngo bakureho cyangwa basane igice cy'amara cyazibye (ubwoko bwa IV).
• Gukoresha amavuta yo kwisiga cyangwa amavuta yo kwisiga kugira ngo uruhu rukomeze kugira ubuzima bwiza.

Indwara ya Waardenburg irashobora kwirindwa?

Kubera ko ibi biterwa n'impinduka mu miterere y'uturemangingo, nta buryo nyabwo bwo kubikumira . Ariko, niba ushaka kumenya ibyago byo kubyara umwana ufite ikibazo cy'uturemangingo, ushobora kuvugana na muganga ku bijyanye no kubagira inama no gupima uturemangingo .

Ni iki nakwitega mu gihe umwana wanjye arwaye indwara ya Waardenburg?

Niba umwana wawe asanzwe arwaye indwara ya Waardenburg, ni ngombwa ko apimwa amatwi buri gihe mu buzima bwe bwose. Ibi bishobora gusaba kujya kwa muganga cyangwa umuganga w’amatwi. Ibi biterwa nuko ibibazo byo kumva bibaho mu bwana bishobora gutinza iterambere ry’imikurire no kugira ingaruka ku iterambere ry’ubwonko . Ariko, abantu bafite iyi ndwara akenshi bashobora kungukirwa n’ibikoresho bya cochlear n’ibikoresho by’ubutabazi bwo kumva .

Igikuru ni ukumenya ikibazo cyo kutumva k'umwana wawe hakiri kare no gutanga ubufasha bukenewe.

Umusatsi w'umwana wawe, amaso ye n'ibara ry'uruhu rwe bishobora gutuma yumva amerewe nabi kandi atandukanye na bagenzi be. Muri ibyo bihe, bamwe mu bana bungukirwa n'ubujyanama mu by'imitekerereze nko kuvura imyitwarire mu buryo bw'ubwenge (CBT) kugira ngo bibafashe kwigirira icyizere.

Abantu barwaye indwara ya Waardenburg bafite igihe cyo kubaho gisanzwe . Nta muti uhari, ariko ibimenyetso birashobora gukemurwa kandi abantu bakabaho neza.

Ni ryari ngomba kujya kwa muganga?

Niba ibimenyetso byawe bikugora gukora imirimo ya buri munsi, cyane cyane niba ufite ikibazo cyo kutumva , cyangwa niba ufite ibibazo nko kubura impatwe kenshi , menya neza ko wagiye kwa muganga.

Ni ibihe bibazo ngomba kubaza muganga?

Iyo ugiye kwa muganga, ushobora kubaza ibibazo nk'ibi:

• Ese ngomba gukoresha icyuma gifasha kumva?
• Ese nkeneye kubagwa kugira ngo ndusheho kumva neza?
• Ni gute narinda uruhu rwanjye izuba?
• Ese nshobora gusiga irangi ku musatsi wanjye niba mfite impinduka mu ibara ry'umusatsi wanjye?

Amaherezo, icyo ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Nubwo ushobora kugira impinduka zimwe na zimwe mu miterere yawe bitewe na Waardenburg Syndrome, ibyo ni byo bigutera kuba umuntu udasanzwe . Hari igihe, cyane cyane ku bana, niba ibi bimenyetso bigutera kumva utameze neza, ni byiza kuvugana n'umujyanama mu by'ubuzima bwo mu mutwe kugira ngo abafashe kwigirira icyizere . Niba umwana wawe asanzwe arwaye Waardenburg Syndrome, kurikirana neza intambwe ze mu mikurire ye mu bwana bwe. Ibi bizafasha kwemeza ko ibimenyetso bitagira ingaruka ku mikurire ye mu bwenge cyangwa ubushobozi bwe bwo gukura neza. Ntugahangayike, hamwe n'inama n'ubufasha bikwiye by'abaganga, ushobora kubaho neza ufite iyi ndwara!

Indwara za Waardenburg , indwara zikomoka ku ngirabuzimafatizo, impinduka mu ibara ry'uruhu, impinduka mu ibara ry'umusatsi, impinduka mu ibara ry'amaso, ubumuga bwo kutumva, gutakaza amatwi mu gihe cy'amavuko