Ingabe ingane yakho encane inezinkinga zokuzwa kanye ne-larynx? Ake sifunde nge-Pendred Syndrome!

Ingabe ingane yakho encane ayithuki lapho izwa umsindo omkhulu? Noma ayibheki emuva lapho igama layo libizwa? Ngezinye izikhathi, ngemuva kwalezi zinto, kungase kube nesimo esingavamile sofuzo esingacabangi ngisho nakancane ngaso. Yilokho okushiwo yi -Pendred Syndrome . Ungakhathazeki, namuhla sizokhuluma ngalokhu kalula, ngendlela ongayiqonda.

Iyini i-Pendred Syndrome?

Kalula nje, i-Pendred Syndrome iyisimo esingavamile sofuzo . Kulesi simo, ingane yakho ingazalwa inokulahlekelwa ukuzwa okungapheli. Lokhu kulahlekelwa ukuzwa kuvame ukuthinta izindlebe zombili futhi kungase kube kubi ngokuhamba kwesikhathi. Ngaphezu kwalokho, izingane kanye nabantu abadala abasebasha abane-Pendred Syndrome bangase babe ne-goiter , okuyi-thyroid gland ekhulisiwe entanyeni. Ngezinye izikhathi, kodwa akuvamile kakhulu, le goiter ingabangela ne-thyroid gland engasebenzi kahle (hypothyroidism).

Cabanga ukuthi kunzima kangakanani ukuthola ukuthi ingane yakho inalesi simo. Kodwa into ebaluleke kakhulu ukungesabi . Udokotela wakho uzokusiza ukuphatha lesi simo futhi alawule izimpawu zengane yakho ngangokunokwenzeka. Bazokutshela nangezinsiza zokuzwa ezifanele ingane yakho, kanye namasu okuxhumana. Khona-ke ukulahlekelwa ukuzwa ngeke kube yisithiyo esikhulu emakhono olimi nokufunda kwengane yakho.

Ziyini izimpawu ze-Pendred syndrome?

Uphawu oluyinhloko nolusobala kakhulu lwalesi simo ukulahlekelwa ukuzwa . Izinga lokulahlekelwa lingahlukahluka kumuntu nomuntu. Ezinye izingane zingaba nokulahlekelwa ukuzwa okuncane kuya kokukhulu (ubuthulu). Isibonelo, ingane enenkinga yokuzwa ephakathi ingase ikwazi ukuzwa abantu bekhuluma kodwa ingase ingakwazi ukuqonda ukuthi bathini.

Ngokuvamile, lokhu kulahlekelwa ukuzwa kuba khona ekuzalweni, kodwa ngezinye izikhathi kungabonakala ngesikhathi sobuntwana, ebuntwaneni, noma ngisho nakamuva.

Izimpawu zokulahlekelwa ukuzwa okubangelwa yi-Pendred syndrome zingafaka:

• Usana oluncane aluthuki ngisho noma luzwa umsindo omkhulu.
• Umntwana akaphenduli uma ebizwa ngegama.
• Ingane ayikaze isho izwi layo lokuqala cishe unyaka wonke.
• Ukuqala ukukhuluma sekwephuzile kunezinye izingane ezineminyaka efanayo.
• Ingane ikucela njalo ukuthi "uphinde usho lokho."

Ngaphezu kwalezi zinkinga zokuzwa, kungase kube nezinye izimpawu eziningana:

• Izinkinga zokulinganisela lapho uhamba - isibonelo, ukuthatha isikhathi ukuqala ukuhamba. Kodwa-ke, lokhu akwenzeki kuwo wonke umuntu futhi akuvamile.
• I-Goiter - Lokhu kuvame ukubonakala lapho ingane isikhulile kancane, okungukuthi, ngesikhathi sobusha noma ngesikhathi sobusha.
• I-Hypothyroidism - Lesi futhi yisimo esingavamile kakhulu.

Kungani kwenzeka lesi sifo sikaPendred?

Imbangela eyinhloko ye-Pendred syndrome ukuguqulwa kwezakhi zofuzo esakhiweni esibizwa ngokuthi `SLC26A4` . Lesi sakhi sofuzo sisiza umzimba wethu ukuthi wakhe iphrotheni ebizwa ngokuthi `pendrin` . Lesi sakhi sofuzo sihlobene kokubili nokuzwa kwethu kanye nokusebenza kwendlala yegilo. Ubuwazi ukuthi indlala yegilo ikhiqiza amahomoni alawula indlela umzimba wethu osebenzisa ngayo amandla (i-metabolism).

Ngakho-ke, uma kunenkinga ngale phrotheni ye-pendrin, izakhiwo ezisendlebeni yangaphakathi yengane ezihlobene nokuzwa zingase zingakhuli kahle . Yilokhu okubangela isimo esibizwa ngokuthi ukulahlekelwa ukuzwa yi-sensorineural . "I-sensorineural" isho ukuthi lokhu kulahlekelwa ukuzwa kuhlala njalo futhi kubangelwa inkinga endlebeni yangaphakathi ngokwayo. Lezi zinkinga zingafaka:

• Ama-Vestibular Aqueducts Akhulisiwe (ama-EVA) : Ama-vestibular aqueducts akho angamapayipi amancane amathambo axhumanisa indlebe yakho yangaphakathi nogebhezi. Abantu abaningi abane-vestibular aqueducts ekhulisiwe bahlangabezana nokulahlekelwa ukuzwa.
• I-cochlea "enokujika" okuncane kunokujwayelekile : I-cochlea iyingxenye engaphakathi yesistimu yethu yokuzwa. Iyisakhiwo esigoqekile, njengomsele womnenke. Ngokuvamile ijika izikhathi ezimbili nezingu-3/4. Ingane ene-Pendred syndrome ingase ibe nokujika okumbalwa kule coil kunomuntu ojwayelekile. Lokhu kuhlotshaniswa nokulahlekelwa ukuzwa.

Futhi, njengoba ngishilo ngaphambili, i-pendrin nayo ithinta indlela esebenza ngayo i-thyroid gland. Ngakho-ke, uma kunezinkinga nge-thyroid gland, ingavuvukala (i-goiter) futhi ingakhiqizi ama-hormone anele.

Ingane izuza kanjani i-Pendred syndrome?

Lokhu kungase kubonakale kuyinkimbinkimbi kancane ukukuqonda, kodwa ake ngikubeke kalula. Ingane ene-Pendred syndrome izuza lesi sici ngendlela ye-autosomal recessive pattern . Kulungile, lokhu kuzwakala kuyinkimbinkimbi kancane, akunjalo? Kalula nje, kunje:

Ukuze ingane ibonise lezi zimpawu, kumele ithole amakhophi amabili alolu guquko lwezakhi zofuzo - elilodwa kunina kanye nelinye kuyise.

Kulokhu, bobabili abazali bangabathwali be-gene eguquliwe. Okusho ukuthi, bobabili bane-gene eyodwa eguquliwe kanye ne-gene eyodwa evamile. Ngenxa yaleyo gene evamile, abazali ababi ne-Pendred syndrome. Kodwa-ke, uma benengane, kunethuba elingama-25% lokuthi ingane izoba nalesi simo. Cabanga ngakho njengokuphonsa izinhlamvu zemali ezimbili bese bobabili bezovela amakhanda.

I-Pendred syndrome itholakala kanjani?

Okufanele ukwenze ukuze uhlole izinkinga zokuzwa ezinganeni ezisanda kuzalwaUkuhlolwa kokuzwa kuvame ukwenziwa ezibhedlela. Uma ukuhlolwa kokuzwa kubonisa ukulahlekelwa ukuzwa, kudingeka ukuhlolwa okwengeziwe ukuqinisekisa ukuxilongwa. Kulapho-ke kuphela lapho kwenziwa khona ukuhlolwa okuqondile ukuze kuhlolwe i-Pendred syndrome. Noma, uma usola ukuthi ingane yakho inenkinga yokuzwa, ungabona udokotela. Kuleli qophelo, cishe uzobona i-otolaryngologist (ENT) noma isazi sezofuzo .

Udokotela uzokubuza imibuzo mayelana nenkinga yokuzwa yengane yakho. Isibonelo, wayibona nini okokuqala nokuthi ukhona yini emndenini wakho oke waba nezinkinga zokuzwa ngaphambili. Njengoba i-Pendred syndrome iwufuzo, kungenzeka ukuthi othile emndenini wakho naye uke waba nayo.

Lezi yizivivinyo ezisiza ekuxilongeni i-Pendred syndrome:

• Ukuhlolwa kokuzwa : Lokhu kufaka phakathi ukuhlolwa okufana nokukhishwa kwe-Otoacoustic (OAE) kanye ne-Auditory Brainstem Response (ABR) . Lokhu kubheka ukusebenza kwendlebe yangaphakathi kanye nezindlela zokuzwa. Njengoba ingane ikhula, kungase kwenziwe ukuhlolwa okwengeziwe ukuze kubonakale ukuthi ukulahlekelwa ukuzwa kuyashintsha yini.
• Ukuskena kwezithombe : Ukuskena kwe-CT noma i-MRI kwenziwa ukuze kubhekwe izakhiwo ezingavamile endlebeni yangaphakathi. Isibonelo, lokhu kuskena kungabheka ama-vestibular aqueducts akhulisiwe (ama-EVA) noma i-cochlea engavamile.
• Ukuhlolwa kwezakhi zofuzo : Ukuhlolwa kwegazi ukuhlola ukuba khona kokuguqulwa kwezakhi zofuzo kwe-SLC26A4 kungaqinisekisa ukuxilongwa.

Uma ingane yakho ine-goiter, ingase ibone nodokotela we-endocrinologist ukuze ahlole izinkinga ze-thyroid.

Iphathwa kanjani i-Pendred syndrome?

Uma ngikhuluma iqiniso, alikho ikhambi le-Pendred syndrome okwamanje . Kodwa-ke, kunezindlela eziningi zokuphatha lesi simo. Ukwelashwa kuncike ezintweni eziningi, njengokuthi yiziphi izinkinga ezikhona endlebeni yangaphakathi yengane nokuthi ukulahlekelwa ukuzwa kukhulu kangakanani.

Izindlela zokwelapha i-Pendred syndrome:

• Izindlela zemfundo nokuxhumana: Ingane idinga ukusizwa ukuthi ifunde ezinye izindlela zokuxhumana nokuxhumana nabanye, hhayi ngokuzwa kuphela. Isibonelo, izinto ezifana nolimi lwezandla.
• Amadivayisi okuzwa : Izinsiza zokuzwa noma i-cochlear implant ukusiza ingane yakho ukuzwa kangcono.Yebo, kungase kudingeke. Lawa madivayisi anikeza usizo olubalulekile, okungenani ingane iqala ukuzwa imisindo. Udokotela wezindlebe kanye nochwepheshe wezindlebe, impumulo kanye nomphimbo basebenzisana ukuncoma ubuchwepheshe bokuzwa obufanele kakhulu ingane.
• Ukwelashwa kwe-thyroid : Uma ingane yakho ine-thyroid engasebenzi kahle (i-hypothyroidism), kungase kudingeke ithathe amaphilisi e-thyroid hormone (izithasiselo ze-thyroid). Uma i-goiter inkulu kakhulu, kungase kudingeke isuswe ngokuhlinzwa (i-thyroidectomy).

Uma ingane yami ine-Pendred syndrome, yini okufanele ngiyilindele?

Ezimweni eziningi ze-Pendred syndrome , ukulahlekelwa ukuzwa kuya ngokuya kuba kubi kakhulu (ukulahlekelwa ukuzwa okuqhubekayo) . Ezinye izingane zingase zilahlekelwe ukuzwa kwazo ngokuphelele ngokuhamba kwesikhathi. Kodwa-ke, ubukhali balokhu buyahlukahluka kuye ngomuntu nomuntu. Izingane eziningi zisebenzisa izinsiza zokuzwa noma izifakelo ze-cochlear ukuze zithole ukuzwa okucishe kube okuvamile futhi ziphile kahle. Ithimba lezokwelapha lengane yakho lizokweluleka ngezinketho zokwelapha ezingcono kakhulu zokusiza ukuzwa kwengane yakho.

Into ebaluleke kakhulu ukuhlonza lesi simo bese uqala ukwelashwa ngokushesha okukhulu. Ngale ndlela, ingane ingafunda ukuxhumana nabanye futhi ichume kahle kanye nezinye izingane ezingontanga yayo.

I-Pendred syndrome iyisimo esihlala isikhathi eside. Kodwa-ke, akusho ukuthi ingane ngeke ikwazi ukuqonda abanye noma ukuveza imibono yabo.

Kufanele ngiyinakekele kanjani ingane yami?

Uma ingane yakho ine-Pendred syndrome, kubalulekile ukuyivikela ekulimaleni ekhanda, njenganoma yimuphi omunye umntwana . Isibonelo, ukugqoka isigqoko sokuzivikela uma ugibela ibhayisikili kungasiza ekunciphiseni ingozi yokulahlekelwa ukuzwa ngokuzumayo ngenxa yokulimala ekhanda engozini. Izinto ezincane njengalezi zingenza umehluko omkhulu.

Kufanele ngimbone nini udokotela?

Ake sibeke eceleni ukuthi imbangela yi-Pendred syndrome noma okunye. Uma ubona noma yiziphi izinguquko noma ukuntuleka kokuzwa kwengane yakho, kufanele nakanjani ubone udokotela. Ngoba uma uthola ukuxilongwa ngokushesha, kulapho uzokwazi khona ukubhekana nokulahlekelwa ukuzwa ngokushesha bese uqala ukwelashwa. Lokho kubaluleke kakhulu ngekusasa lengane.

Yimiphi imibuzo okufanele ngiyibuze udokotela wengane yami?

Uma uya kudokotela, lungela ukubuza imibuzo efana nale:

• Ubani ozoba yingxenye yethimba lezokwelapha elizolapha ingane yami? (isib. udokotela we-ENT, isazi sokuzwa, isazi sezakhi zofuzo)
• Yiziphi izimpawu zokuthi ukuzwa kwengane yami kuya kuba kubi kakhulu?
• Yiziphi izindlela zokwelapha?
• Ithini isimiso sakho sokwelashwa osiphakamisayo?
• Yimiphi eminye imisebenzi engalimaza ukuzwa kwengane yami? (isib. umsindo omkhulu, imidlalo ethile)
• Yiziphi izinsiza ezitholakalayo zokusiza izingane nabazali ukuthi babhekane nokulahlekelwa ukuzwa ebuntwaneni? (isib. izinsizakalo zokwelulekwa, amaqembu okusekela)

Nge-Pendred syndrome, ingane ingase ilahlekelwe ikhono lokuzwa imisindo eyisiza ukuthi ixhumane nendawo ezungezile. Kodwa-ke, lokhu akusho ukuthi ingane kumele igweme lokhu kusebenzisana unomphela. Izinsiza zokuzwa zingaba usizo olukhulu ezinganeni eziningi ezinalesi simo. Ukufunda amakhono okuxhumana zisencane kungasiza ingane yakho ukuba ibe nobudlelwano nabantu, kungakhathaliseki ukuthi ukulahlekelwa kwayo ukuzwa kungakanani. Ithimba lezempilo lengane yakho lizokwazi ukukhuluma nawe ngezinyathelo wena nomndeni wakho eningazithatha ukusiza ingane yakho. Yiba nesibindi, awuwedwa!

Izinto ezibalulekile okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

• I-Pendred Syndrome yisimo sofuzo esibangela kakhulu ukulahlekelwa ukuzwa futhi ngezinye izikhathi i-otitis media.
• Ukutholwa kusenesikhathi kanye nokwelashwa kubaluleke kakhulu. Lokhu kungathuthukisa kakhulu izinga lempilo yengane.
• Nakuba kungekho ikhambi, kunezindlela zokuliphatha. Lokhu kufaka phakathi izinsiza zokuzwa, ukwelashwa kokukhuluma, kanye nokwelashwa kwe-thyroid uma kudingeka.
• Kubalulekile ukunikeza ingane uthando, ukusekela, kanye nesikhuthazo. Ngesikhathi ulandela iseluleko sezokwelapha, siza ingane iphile impilo evamile nejabulisayo.
• Vikela ingane yakho ekulimaleni ekhanda. Lokhu kuzonciphisa amathuba okuba ukulahlekelwa ukuzwa kube kubi kakhulu.

Uma uneminye imibuzo mayelana nalokhu, ungesabi ukukhuluma nodokotela wakho. Bahlala bekulungele ukukusiza.

I- Pendred syndrome, ukukhubazeka kokuzwa, i-tonsillitis, izifo zofuzo, impilo yezingane, izinsiza zokuzwa, i-thyroid