Ese umwana wawe afite ibibazo byo kutumva no kubura imikaya? Reka twige kuri Pendred Syndrome!

Ese umwana wawe ntatinya urusaku rwinshi? Cyangwa se ntareba inyuma iyo izina rye rivuzwe? Hari igihe, inyuma y'ibi bintu, hashobora kubaho indwara idakunze kugaragara mu buryo bw'uturemangingo tutanatekerezaho. Ni yo ndwara ya Pendred Syndrome . Ntugahangayike, uyu munsi turaganira kuri ibi mu buryo bworoshye, mu buryo ushobora gusobanukirwa.

Indwara ya Pendred Syndrome ni iki?

Muri make, Pendred Syndrome ni indwara idakunze kugaragara mu maraso . Muri iki gihe, umwana wawe ashobora kuvukana ikibazo cyo kutumva burundu. Iki kibazo cyo kutumva gikunze kugira ingaruka ku matwi yombi kandi gishobora kwiyongera uko igihe kigenda gihita. Byongeye kandi, abana n'urubyiruko bafite Pendred Syndrome bashobora kurwara goiter , ari yo gland ya tiroyide yagutse mu ijosi. Rimwe na rimwe, ariko gake cyane, iki kibazo gishobora no gutera gland ya tiroyide idakora neza (hypothyroidism).

Tekereza ukuntu bigoye kumenya ko umwana wawe afite iyi ndwara. Ariko icy'ingenzi ni ukudatinya . Muganga wawe azagufasha gucunga iyi ndwara no kugenzura ibimenyetso by'umwana wawe uko bishoboka kose. Bazakubwira kandi ibijyanye n'ibikoresho by'ubwubatsi bibereye umwana wawe, ndetse n'uburyo bwo gutumanaho. Ubwo rero, kubura amatwi ntibizaba imbogamizi ikomeye ku bumenyi bw'indimi n'imyigire y'umwana wawe.

Ni ibihe bimenyetso by'indwara ya Pendred?

Ikimenyetso nyamukuru kandi kigaragara cyane cy’iyi ndwara ni ukubura amatwi . Ingano y’iki kibazo ishobora gutandukana bitewe n’umuntu ku wundi. Hari abana bashobora kugira ikibazo cyo kutumva cyoroshye cyangwa gikomeye (ubupfamatwi). Urugero, umwana ufite ikibazo cyo kutumva cyoroshye ashobora kumva abantu bavuga ariko ntashobora kumva ibyo bavuga.

Akenshi, uku gutakaza ubushobozi bwo kumva bibaho igihe umuntu avuka, ariko rimwe na rimwe bishobora kugaragara mu bwana, mu bwana, cyangwa nyuma yaho.

Ibimenyetso by'ububabare bwo kutumva buterwa na Pendred syndrome bishobora kuba birimo:

• Uruhinja ruto ntirucika intege nubwo rwumvise urusaku rwinshi.
• Umwana ntasubiza iyo ahamagawe mu izina.
• Uruhinja ntirumaze hafi umwaka ruvuga ijambo ryarwo rya mbere.
• Gutangira kuvuga nyuma y'abandi bana b'ikigero kimwe.
• Umwana ahora agusaba "kongera kuvuga ibyo".

Uretse ibi bibazo byo kutumva, hashobora kubaho n'ibindi bimenyetso byinshi:

• Ibibazo byo kuringaniza igihe ugenda n'amaguru - urugero, gufata igihe kugira ngo utangire kugenda. Ariko, ibi ntibibaho kuri buri wese kandi ni gake cyane.
• Goiter - Ibi bikunze kugaragara iyo umwana akuze gato, ni ukuvuga mu gihe cy'ubwangavu cyangwa mu bwana.
• Hypothyroidism - Iyi nayo ni indwara ikunze kugaragara cyane.

Kuki iyi ndwara ya Pendred ibaho?

Impamvu nyamukuru itera Pendred syndrome ni impinduka mu miterere y’uturemangingo muri gene yitwa `SLC26A4` . Iyi gene ifasha umubiri wacu gukora poroteyine yitwa `pendrin` . Iyi pendrin ifitanye isano no kumva kwacu ndetse n'imikorere y'agace ka tiroyide. Ese wari uzi ko giroyide ikora imisemburo igenzura uburyo umubiri wacu ukoresha ingufu (metabolism).

Rero, iyo habayeho ikibazo kuri iyi poroteyine ya pendrin, imiterere yo mu gutwi k'umwana imbere ifitanye isano no kumva ishobora kudakura neza . Ibi nibyo bitera indwara yitwa sensorineural hearing loss . "Sensorineural" bivuze ko uku kubura amatwi ari burundu kandi guterwa n'ikibazo kiri mu gutwi ubwako. Ibi bibazo bishobora kuba birimo:

• Imiyoboro y'amazi ya Vestibular Yagutse (EVAs) : Imiyoboro y'amazi ya vestibular yawe ni imiyoboro mito y'amagufwa ihuza ugutwi kwawe imbere n'agahanga. Abantu benshi bafite imiyoboro y'amazi ya vestibular yagutse bagira ikibazo cyo kutumva.
• Impuzankano ifite "impinduka" nke ugereranyije n'ibisanzwe : Impuzankano ni igice cy'imbere mu buryo bwacu bwo kumva. Ni imiterere izunguruka, nk'umwobo w'ikinyobwa. Ubusanzwe igira impinduka ebyiri na 3/4. Umwana urwaye Pendred syndrome ashobora kugira impinduka nke muri iyi mpzankano ugereranyije n'umuntu usanzwe. Ibi kandi bifitanye isano no kutumva.

Nanone, nkuko nabivuze mbere, pendrin igira ingaruka ku buryo ingirabuzimafatizo ya tiroyide ikora. Bityo, iyo habayeho ibibazo kuri ingirabuzimafatizo ya tiroyide, ishobora kubyimba (goiter) ntikore imisemburo ihagije.

Ni gute umwana akura indwara ya Pendred?

Ibi bishobora gusa n'ibigoye kubyumva, ariko reka mbivuge mu buryo bworoshye. Umwana urwaye Pendred syndrome aragwa iyo ngeso mu buryo bworoshye bwo kugaragara mu mubiri . Ibi bisa n'ibigoye gato, si byo se? Mu magambo make, ni ibi bikurikira:

Kugira ngo umwana agaragaze ibi bimenyetso, agomba kuragwa kopi ebyiri z'iyi mihindukire y'uturemangingo - imwe iva kuri nyina n'indi iva kuri se.

Muri iki gihe, ababyeyi bombi ni bo batwara gene yahinduwe. Ni ukuvuga ko bombi bafite gene imwe yahinduwe n'igene imwe isanzwe. Kubera iyo gene isanzwe, ababyeyi ntibarwara Pendred syndrome. Ariko, iyo babyaye umwana, hari amahirwe agera kuri 25% ko umwana azarwara iyo ndwara. Tekereza nko kuzunguza ibiceri bibiri maze bombi bakazagaragara.

Indwara ya Pendred ipimwa ite?

Icyo wakora kugira ngo urebe niba abana bavutse bafite ibibazo byo kutumva nezaGupima amatwi bikunze gukorwa mu bitaro. Iyo ikizamini cyo kumva cyerekanye ko umuntu yatakaje amatwi, hakenewe ibindi bipimo kugira ngo byemezwe ko yanduye. Icyo gihe ni bwo hakorwa ibindi bipimo byihariye kugira ngo hamenyekane indwara ya Pendred. Cyangwa, niba ukeka ko umwana wawe afite ikibazo cyo kutumva, ushobora kubonana na muganga. Muri iki gihe, ushobora kubonana na muganga w’indwara z’amaso (ENT) cyangwa inzobere mu by’uturemangingo .

Muganga azakubaza ibibazo bijyanye n'ikibazo cy'umwana wawe cyo kutumva. Urugero, ni ryari wabibonye bwa mbere kandi niba hari umuntu wo mu muryango wawe wigeze kugira ibibazo byo kutumva mbere. Kubera ko Pendred syndrome ari indwara y'uruhererekane, birashoboka ko hari umuntu wo mu muryango wawe wigeze ayirwara.

Ibi ni ibizamini bifasha gusuzuma indwara ya Pendred:

• Ibizamini byo kumva : Ibi birimo ibizamini nka Otoacoustic Emissions (OAE) na Auditory Brainstem Response (ABR) . Ibi bireba imikorere y'imbere mu gutwi n'inzira zo kumva. Uko umwana agenda akura, hashobora gukorwa ibizamini byinshi kugira ngo harebwe niba ikibazo cyo kutumva kirimo guhinduka.
• Gupima amashusho : Gupima CT cyangwa MRI bikorerwa kugira ngo harebwe imiterere idasanzwe mu gutwi imbere. Urugero, ibi bipimo bishobora kureba imiyoboro y'amazi ya vestibular (EVAs) yagutse cyangwa cochlea idasanzwe.
• Gupima imiterere y'uturemangingo : Gupima amaraso kugira ngo harebwe niba hari ihinduka ry'uturemangingo twa SLC26A4 bishobora kwemeza ko ari indwara.

Niba umwana wawe afite indwara ya goiter, ashobora no kubonana n'umuganga w'indwara z'imitsi kugira ngo arebe niba afite ibibazo bya tiroyide.

Indwara ya Pendred ivurwa ite?

Mu by'ukuri, nta muti uraboneka wa Pendred syndrome . Ariko, hari amahitamo menshi yo gukemura iyo ndwara. Ubuvuzi buterwa n'ibintu byinshi, nko kuba umwana afite ibibazo mu gutwi kwe ndetse n'uburyo ikibazo cyo kutumva gikabije.

Uburyo bwo kuvura indwara ya Pendred:

• Uburyo bwo kwigisha no gutumanaho: Umwana akeneye gufashwa kwiga ubundi buryo bwo kuvugana no gusabana n'abandi, atari ukubyumva gusa. Urugero, ibintu nk'ururimi rw'amarenga.
• Ibikoresho byo kumva : Ibikoresho byo kumva cyangwa imashini yo gutera umwana kugira ngo bifashe umwana wawe kumva neza.Yego, bishobora kuba ngombwa. Ibi bikoresho bitanga ubufasha buhambaye, nibura umwana atangira kumva amajwi. Umuganga w’amatwi n’inzobere mu by’amatwi, amazuru n’umuhogo bakorana kugira ngo batange inama ku ikoranabuhanga rikwiye ryo kumva ku mwana.
• Uburyo bwo kuvura indwara ya tiroyide : Niba umwana wawe afite ikibazo cyo kudakora neza kwa tiroyide (hypothyroidism), ashobora gukenera gufata ibinini bya tiroyide (inyongeramusaruro za tiroyide). Niba indwara ya goiter ari nini cyane, ishobora gukenera kubagwa (thyroidectomy).

Niba umwana wanjye afite Pendred syndrome, ni iki nakwitega?

Mu bihe byinshi bya Pendred syndrome , ububabare bwo kutumva burushaho kwiyongera (ububabare bwo kutumva bugenda burushaho kwiyongera) . Hari abana bashobora gutakaza ubushobozi bwo kutumva burundu uko igihe kigenda gihita. Ariko, uburemere bw'ibi butandukana bitewe n'umuntu ku giti cye. Abana benshi bakoresha ibikoresho by'ubwubatsi cyangwa ibikoresho bya cochlear kugira ngo bagere ku buryo busanzwe bwo kutumva no kubaho neza. Itsinda ry'abaganga b'umwana wawe rizakugira inama ku buryo bwiza bwo kuvura kugira ngo umwana wawe ashobore kutumva.

Igikuru ni ukumenya iyi ndwara no gutangira kuyivura vuba bishoboka. Muri ubwo buryo, umwana ashobora kwiga uburyo bwo kuvugana n'abandi no gutera imbere hamwe n'abandi bana bo mu kigero cye.

Indwara ya Pendred ni indwara ibaho ubuzima bwose. Ariko, ntibivuze ko umwana atazashobora kumva abandi cyangwa ngo agaragaze ibitekerezo byabo.

Ni gute nkwiye kwita ku mwana wanjye?

Niba umwana wawe afite indwara ya Pendred syndrome, ni ngombwa kumurinda ibikomere byo mu mutwe, kimwe n'abandi bana bose . Urugero, kwambara ingofero mu gihe utwaye igare bishobora kugabanya ibyago byo kubura amatwi bitunguranye bitewe n'imvune yo mu mutwe mu mpanuka. Utuntu duto nk'utwo dushobora kugira itandukaniro rikomeye.

Ni ryari ngomba kujya kwa muganga?

Reka dushyire ku ruhande niba impamvu ari Pendred syndrome cyangwa ikindi kintu. Niba ubonye impinduka cyangwa inenge mu kumva k'umwana wawe, ugomba kujya kwa muganga. Kuko uko umenyeshejwe vuba, ni ko ushobora kwihanganira ikibazo cyo kutumva vuba no gutangira kuvurwa. Ibyo ni ingenzi cyane ku hazaza h'umwana.

Ni ibihe bibazo ngomba kubaza muganga w'umwana wanjye?

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

• Ni nde uzaba mu itsinda ry’abaganga bazavura umwana wanjye? (urugero: umuganga w’indwara z’uruhu, impuguke mu by’amatwi, inzobere mu by’imiterere y’umubiri)
• Ni ibihe bimenyetso bigaragaza ko umwana wanjye yumva nabi?
• Ni ubuhe buryo bwo kuvura?
• Ni iyihe gahunda yo kuvurwa watanze?
• Ni ibihe bikorwa bindi bishobora kwangiza ubumuga bwo kutumva k'umwana wanjye? (urugero: urusaku rwinshi, siporo zimwe na zimwe)
• Ni izihe ngamba zihari zo gufasha abana n'ababyeyi guhangana n'ikibazo cyo kutumva mu bwana? (urugero: serivisi z'ubujyanama, amatsinda y'ubufasha)

Afite indwara ya Pendred, umwana ashobora gutakaza ubushobozi bwo kumva amajwi amufasha kwihuza n'ibimukikije. Ariko, ibi ntibivuze ko umwana agomba kwirinda ibyo bibazo burundu. Ibyuma bifasha kumva bishobora gufasha cyane abana benshi bafite iyi ndwara. Kwiga ubuhanga bwo kuvugana n'abandi bakiri bato bishobora gufasha umwana wawe kuba umuntu usabana n'abandi, uko ikibazo cyo kutumva cyaba kingana kose. Itsinda ry'abaganga b'umwana wawe rizashobora kukuganiriza ku ntambwe wowe n'umuryango wawe mwatera kugira ngo mufashe umwana wanyu. Humura, nturi wenyine!

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

• Indwara ya Pendred ni indwara iterwa n’uturemangingo itera ahanini ububabare bwo kutumva ndetse rimwe na rimwe n’indwara yo mu matwi.
• Gusuzuma no kuvurwa hakiri kare ni ingenzi cyane. Ibi bishobora kuzamura cyane ubuzima bw'umwana.
• Nubwo nta muti uhari, hari uburyo bwo kuwifata. Muri ubwo buryo harimo utwuma tw’amatwi, uburyo bwo kuvura indwara yo mu mutwe, ndetse nibiba ngombwa, n’uburyo bwo kuvura indwara ya tiroyide.
• Ni ngombwa kugaragariza umwana urukundo, inkunga, no kumushyigikira. Mu gihe ukurikiza inama za muganga, fasha umwana kubaho ubuzima busanzwe kandi burangwa n'ibyishimo.
• Rinda umwana wawe ibikomere byo mu mutwe. Ibi bizagabanya ibyago byo kubura amatwi byiyongera.

Niba ufite ikindi kibazo kuri ibi, ntutinye kuvugana na muganga wawe. Bahora biteguye kugufasha.

Indwara ya Pendred, ubumuga bwo kutumva, tonsillitis, indwara zikomoka ku ngirabuzimafatizo, ubuzima bw'abana, utwuma tw'amatwi, indwara ya tiroyide