Ngaba umntwana wakho omncinci uneengxaki zokuva kunye ne-larynx? Masifunde nge-Pendred Syndrome!

Ingaba umntwana wakho akakhathali xa ebona ingxolo enkulu? Okanye akajongi ngasemva xa ebizwa igama lakhe? Ngamanye amaxesha, emva kwezi zinto, kunokubakho imeko engaqhelekanga yemfuza esingacingi nokucinga ngayo. Yiyo loo nto iPendred Syndrome . Ungakhathazeki, namhlanje siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda.

Yintoni iPendred Syndrome?

Ngamafutshane, i-Pendred Syndrome yimeko engaqhelekanga yemfuza . Kwimeko enjalo, umntwana wakho unokuzalwa enengxaki yokuva engapheliyo. Oku kulahlekelwa kukuva kudla ngokuchaphazela zombini iindlebe kwaye kunokuba mandundu ngokuhamba kwexesha. Ukongeza, abantwana kunye nabantu abadala abancinci abane-Pendred Syndrome banokuba ne -goiter , eyi-thyroid gland ekhulayo entanyeni. Ngamanye amaxesha, kodwa kunqabile kakhulu, le goiter inokubangela i-thyroid gland engasebenzi kakuhle (hypothyroidism).

Khawuthelekelele ukuba kunzima kangakanani ukufumanisa ukuba umntwana wakho unale meko. Kodwa eyona nto ibalulekileyo kukungaphakuzeli . Ugqirha wakho uya kukunceda ulawule le meko kwaye alawule iimpawu zomntwana wakho kangangoko kunokwenzeka. Baza kukuxelela nangezixhobo zokuva ezifanelekileyo kumntwana wakho, kunye namaqhinga onxibelelwano. Emva koko ukulahlekelwa kukuva akuyi kuba ngumqobo omkhulu kwizakhono zolwimi nokufunda komntwana wakho.

Zithini iimpawu zePendred syndrome?

Uphawu oluphambili nolucacileyo lwale meko kukulahlekelwa kukuva . Ubungakanani bokulahlekelwa kokuva buyahluka ukusuka kumntu ukuya komnye. Abanye abantwana banokuba nokulahlekelwa kukuva kancinci ukuya kokukhulu (ukungeva). Umzekelo, umntwana olahlekelwe kukuva okuphakathi unokukwazi ukuva abantu bethetha kodwa angakwazi ukuqonda into abayithethayo.

Izihlandlo ezininzi, oku kuphulukana nokuva kubakho xa umntwana ezalwa, kodwa ngamanye amaxesha kunokubonakala ngexesha lobuntwana, ebuntwaneni, okanye nasemva koko.

Iimpawu zokulahlekelwa kukuva okubangelwa yiPendred syndrome zingabandakanya:

• Usana oluncinci aluqhaqhazeli nokuba luva ingxolo enkulu.
• Usana aluphenduli xa lubizwa ngegama.
• Usana aluzange luthethe ilizwi lalo lokuqala phantse unyaka wonke.
• Ukuqala ukuthetha emva kwexesha kunabanye abantwana abaneminyaka efanayo.
• Umntwana uhlala ekucela ukuba "uphinde utsho loo nto."

Ukongeza kwezi ngxaki zokuva, kunokubakho nezinye iimpawu ezininzi:

• Iingxaki zokulinganisela xa uhamba - umzekelo, kuthatha ixesha ukuqala ukuhamba. Nangona kunjalo, oku akwenzeki kuwo wonke umntu kwaye kunqabile.
• I-Goiter - Oku kubonakala rhoqo xa umntwana emdala kancinci, oko kukuthi, ngexesha lokufikisa okanye ulutsha.
• I-Hypothyroidism - Le yimeko engaqhelekanga kakhulu.

Kutheni le nto i-Pendred syndrome isenzeka?

Eyona nto ibangela i-Pendred syndrome kukuguquka kwezakhi zofuzo kwi-gene ebizwa ngokuba yi-`SLC26A4` . Le gene inceda umzimba wethu ukuba wenze iproteni ebizwa ngokuba yi -`pendrin` . Le pendrin inxulumene nokuva kwethu kunye nokusebenza kwe-thyroid gland. Ubusazi ukuba i-thyroid gland ivelisa iihomoni ezilawula indlela umzimba wethu osebenzisa ngayo amandla (i-metabolism).

Ngoko ke, xa kukho ingxaki ngale protein ye-pendrin, izakhiwo ezikwindlebe yangaphakathi yomntwana ezinxulumene nokuva zisenokungakhuli kakuhle . Yile nto ibangela imeko ebizwa ngokuba yi -sensorineural hearing loss . I-"sensorineural" ithetha ukuba le ngxaki yokuva ihlala ihleli kwaye ibangelwa yingxaki ekwindlebe yangaphakathi ngokwayo. Ezi ngxaki zingabandakanya:

• Ii-Vestibular Aqueducts eziKhululiweyo (ii-EVA) : Ii-vestibular aqueducts zakho ziityhubhu ezincinci ezinamathambo ezidibanisa indlebe yakho yangaphakathi nentloko. Abantu abaninzi abanee-vestibular aqueducts ezinkulu banengxaki yokuva.
• I-cochlea "eneenguqu" ezimbalwa kunesiqhelo : I-cochlea yinxalenye engaphakathi yenkqubo yethu yokuva. Yisakhiwo esijikelezileyo, njengomngxuma wenkumba. Ihlala ijika kabini nakathathu ngekota. Umntwana one-Pendred syndrome unokuba neenguqu ezimbalwa kule coil kunomntu oqhelekileyo. Oku kukwanxulunyaniswa nokulahlekelwa kukuva.

Kwakhona, njengoko benditshilo ngaphambili, i-pendrin ikwachaphazela indlela esebenza ngayo i-thyroid gland. Ngoko ke, xa kukho iingxaki kwi-thyroid gland, inokudumba (i-goiter) kwaye ingavelisi iihomoni ezaneleyo.

I-Pendred syndrome ifunyanwa njani ngumntwana njengelifa?

Oku kungabonakala kunzima ukukuqonda, kodwa mandikubeke ngokulula. Umntwana one-Pendred syndrome uzuze olu phawu kwi-autosomal recessive pattern . Kulungile, oku kuvakala kunzima kancinci, akunjalo? Ukubeka ngokulula, kunje:

Ukuze umntwana abonakalise ezi mpawu, kufuneka afumane iikopi ezimbini zolu tshintsho lwezakhi zofuzo – enye ivela kunina nenye ivela kuyise.

Kwimeko enjalo, bobabini abazali bangabathwali bejini eguquliweyo. Oko kukuthi, bobabini banejini enye eguquliweyo kunye nejini eqhelekileyo. Ngenxa yejini eqhelekileyo, abazali abaphuhlisi i-Pendred syndrome. Nangona kunjalo, xa benomntwana, kukho amathuba angama-25% okuba umntwana abe nale meko. Cinga ngayo njengokujika iingqekembe ezimbini kwaye bobabini baya kuvela iintloko.

Ifunyanwa njani iPendred syndrome?

Okufanele ukwenze ukujonga iingxaki zokuva kwiintsana ezisandul’ ukuzalwaUvavanyo lokuva ludla ngokwenziwa ezibhedlele. Ukuba uvavanyo lokuva lubonisa ukuba umntu ulahlekelwe kukuva, kufuneka olunye uvavanyo ukuqinisekisa ukuxilongwa. Kuphela kulapho kwenziwa khona uvavanyo oluthe ngqo ukujonga isifo sikaPendred. Okanye, ukuba ukrokrela ukuba umntwana wakho unengxaki yokuva, ungabonana nogqirha. Ngeli xesha, kusenokwenzeka ukuba ubonane nogqirha we-otolaryngologist (ENT) okanye ingcali ye-genetics .

Ugqirha uza kukubuza imibuzo malunga nengxaki yokuva yomntwana wakho. Umzekelo, wayibona nini okokuqala kwaye ngaba kukho umntu kusapho lwakho owakha waba neengxaki zokuva ngaphambili. Ekubeni i-Pendred syndrome idluliselwa kwilifa, kusenokwenzeka ukuba kukho umntu kusapho lwakho naye owakha waba nayo.

Ezi ziimvavanyo ezinceda ekuxilongeni i-Pendred syndrome:

• Uvavanyo lokuva : Olu luquka uvavanyo olufana nokukhupha i-Otoacoustic (OAE) kunye ne-Auditory Brainstem Response (ABR) . Olu vavanyo lujonga ukusebenza kwendlebe yangaphakathi kunye neendlela zokuva. Njengoko umntwana ekhula, kunokwenziwa uvavanyo oluninzi ukuze kubonwe ukuba ukulahlekelwa kukuva kuyatshintsha na.
• Iiskeni zomfanekiso : Iskeni ye-CT okanye i-MRI iyenziwa ukujonga izakhiwo ezingaqhelekanga kwindlebe yangaphakathi. Umzekelo, ezi skeni zinokujonga ii-vestibular aqueducts ezandisiweyo (ii-EVA) okanye i-cochlea engaqhelekanga.
• Uvavanyo lwemfuza : Uvavanyo lwegazi lokujonga ubukho botshintsho lwemfuza lwe-SLC26A4 lunokuqinisekisa ukuxilongwa.

Ukuba umntwana wakho une-goiter, unokubonana nogqirha we-endocrinologist ukuze ahlole iingxaki ze-thyroid.

Iphathwa njani i-Pendred syndrome?

Inyaniso kukuba, okwangoku akukho nyango lwe-Pendred syndrome . Nangona kunjalo, zininzi iindlela zokulawula le meko. Unyango luxhomekeke kwizinto ezininzi, ezinje ngezinto ezingaqhelekanga ezikhoyo endlebeni yangaphakathi yomntwana kunye nokuba kungakanani na ukulahlekelwa kukuva.

Iindlela zonyango lwe-Pendred syndrome:

• Iindlela zemfundo nonxibelelwano: Umntwana kufuneka ancedwe ukuba afunde ezinye iindlela zokunxibelelana nokusebenzisana nabanye, kungekuphela nje ngokuva. Umzekelo, izinto ezifana nolwimi lwezandla.
• Izixhobo zokuva : Izixhobo zokuva okanye i-cochlear implant ukunceda umntwana wakho eve ngcono.Ewe, kusenokuba yimfuneko. Ezi zixhobo zibonelela ngoncedo olubalulekileyo, ubuncinane umntwana uqala ukuva izandi. Ingcali ye-audiologist kunye nengcali yendlebe, impumlo nomqala basebenzisana ukucebisa ubuchwepheshe bokuva obufanelekileyo kumntwana.
• Unyango lwe-thyroid : Ukuba umntwana wakho une-thyroid engasebenzi kakuhle (hypothyroidism), kunokufuneka athathe iipilisi ze-thyroid hormone (izongezo ze-thyroid). Ukuba i-goiter inkulu kakhulu, kunokufuneka isuswe ngotyando (i-thyroidectomy).

Ukuba umntwana wam une-Pendred syndrome, ndimele ndilindele ntoni?

Kwiimeko ezininzi zePendred syndrome , ukulahlekelwa kukuva kuya kusiba mandundu kancinci kancinci (ukulahlekelwa kukuva okuqhubekekayo) . Abanye abantwana banokulahlekelwa kukuva kwabo ngokupheleleyo ngokuhamba kwexesha. Nangona kunjalo, ubunzulu boku kwahlukana komntu nomntu. Abantwana abaninzi basebenzisa izixhobo zokuva okanye izixhobo zokufakelwa i-cochlear ukuze bafumane ukuva okuqhelekileyo kwaye baphile kakuhle. Iqela lezonyango lomntwana wakho liya kukucebisa ngeendlela zonyango ezilungileyo zokunceda ukuva komntwana wakho.

Eyona nto ibalulekileyo kukubona le meko uze uqale unyango ngokukhawuleza. Ngale ndlela, umntwana unokufunda indlela yokunxibelelana nabanye aze aphumelele kunye nabanye abantwana abaneminyaka yakhe.

I-Pendred syndrome yimeko ehlala ubomi bonke. Nangona kunjalo, akuthethi ukuba umntwana akayi kukwazi ukuqonda abanye okanye ukuveza izimvo zabo.

Ndingamnyamekela njani umntwana wam?

Ukuba umntwana wakho une-Pendred syndrome, kubalulekile ukumkhusela ekulimaleni entloko, njengaye nawuphi na umntwana . Umzekelo, ukunxiba isigcina-ntloko xa ukhwela ibhayisekile kunokunceda ukunciphisa umngcipheko wokulahlekelwa kukuva ngequbuliso ngenxa yokwenzakala entloko kwingozi. Izinto ezincinci ezinje ngezi zinokwenza umahluko omkhulu.

Ndifanele ndimbone nini ugqirha?

Masibeke ecaleni nokuba imbangela yiPendred syndrome okanye enye into. Ukuba ubona naluphi na utshintsho okanye iziphene ekuveni komntwana wakho, ngokuqinisekileyo kuya kufuneka ubone ugqirha. Kuba okukhona ufumanisa ukuba umntwana wakho unengxaki yokuva ngokukhawuleza, kokukhona unokukwazi ukulawula ukulahleka kokuva ngokukhawuleza kwaye uqale unyango. Oko kubaluleke kakhulu kwikamva lomntwana.

Yeyiphi imibuzo endifanele ndiyibuze ugqirha womntwana wam?

Xa usiya kugqirha, lungela ukubuza imibuzo efana nale:

• Ngubani oza kuba yinxalenye yeqela lezonyango elinyanga umntwana wam? (umz. ugqirha we-ENT, ingcali ye-audiologist, ingcali yemfuza)
• Ziziphi iimpawu zokuba ukuva komntwana wam kuya kuba mandundu?
• Ziziphi iindlela zonyango?
• Ithini ishedyuli yonyango oyicebisayo?
• Zeziphi ezinye izinto ezinokonakalisa ukuva komntwana wam? (umz. ingxolo enkulu, imidlalo ethile)
• Zeziphi izixhobo ezikhoyo ukunceda abantwana nabazali bajongane nokulahlekelwa kukuva ebuntwaneni? (umz., iinkonzo zokunika iingcebiso, amaqela enkxaso)

Nge-Pendred syndrome, umntwana usenokulahlekelwa kukwazi ukuva izandi ezimnceda ukuba adibane nendawo emngqongileyo. Nangona kunjalo, oku akuthethi ukuba umntwana kufuneka aziphephe ezi zinto ngonaphakade. Izixhobo zokuva zinokuba luncedo olukhulu kubantwana abaninzi abanale meko. Ukufunda izakhono zonxibelelwano ebuntwaneni kunokunceda umntwana wakho abe nolwalamano ngakumbi, nokuba ukulahlekelwa kwakhe kukuva kangakanani na. Iqela lezempilo lomntwana wakho liya kukwazi ukuthetha nawe malunga namanyathelo onokuwathatha wena nosapho lwakho ukunceda umntwana wakho. Yiba nesibindi, awuwedwa!

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

• I-Pendred Syndrome yimeko yemfuza ebangela ukulahleka kokuva kwaye ngamanye amaxesha i-otitis media.
• Ukufunyanwa kwangoko kunye nonyango kubaluleke kakhulu. Oku kunokuphucula kakhulu umgangatho wobomi bomntwana.
• Nangona kungekho nyango, zikho iindlela zokulilawula. Ezi ziquka izixhobo zokuva, unyango lokuthetha, kwaye, ukuba kuyimfuneko, unyango lwe-thyroid.
• Kubalulekile ukumnika uthando, inkxaso, kunye nokukhuthaza umntwana. Ngelixa ulandela iingcebiso zonyango, nceda umntwana aphile ubomi obuqhelekileyo nobonwabisayo.
• Khusela umntwana wakho ekwenzakaleni entloko. Oku kuya kunciphisa amathuba okuba angakwazi ukuva kakuhle.

Ukuba uneminye imibuzo malunga noku, ungoyiki ukuthetha nogqirha wakho. Bahlala bekulungele ukukunceda.

Isifo sikaPendred , ukukhubazeka kokuva, i-tonsillitis, izifo zemfuza, impilo yabantwana, izixhobo zokuncedisa ukuva, i-thyroid