Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-Stickler Syndrome

Ingabe ingane yakho encane ivame ukuba nezinkinga zamehlo, ukulahlekelwa ukuzwa, noma ubuhlungu bamalunga? Mhlawumbe lezi zinto zihambisana nezinguquko ezithile zobuso, kungaba kubaluleke kakhulu ukuqaphela lesi simo esikhuluma ngaso namuhla. Nakuba leli igama ongalazi kancane, kubaluleke kakhulu kuwe njengomama noma ubaba ukuqaphela lesi simo. Ngoba lapho usheshe usiqaphele, kulapho uthola khona amathuba amaningi okusiza ingane yakho.

Kalula nje, iyini i-Stickler Syndrome?

Kulungile, ake sikuqonde lokhu kalula. Cabanga ukuthi umzimba wethu uyisakhiwo esakhiwe kahle. Kulesi sakhiwo, konke okufana nezitini, izindonga, nophahla kunesimende esihlanganisa konke ndawonye futhi sibanike amandla nesimo, akunjalo? Ngokufanayo, zonke izitho zomzimba wethu njengamathambo, isikhumba, amehlo, nezindlebe zinenethiwekhi ekhethekile yezicubu ezihlanganisa konke ndawonye futhi zizinike amandla nokuguquguquka. Lezi zicubu ezixhumeneyo sizibiza ngokuthi .

I-Stickler syndrome yisimo esibangelwa yiphutha kuma-gene aqondisa ukukhiqizwa kwezicubu ezixhumeneyo. Njengoba nje kwenzeka esakhiweni lapho ikhwalithi yesamente incipha, lapho lezi zicubu ezixhumeneyo ziba buthaka, izingxenye ezahlukene zomzimba wethu zingathinteka, ikakhulukazi ukuthuthukiswa kwamehlo, izindlebe, amalunga, nobuso . Lesi yisimo esizuzwa njengefa.

Sivame kangakanani lesi simo?

Empeleni lesi akusona isifo esivame kakhulu. Ngokwezibalo, lesi simo senzeka cishe koyedwa kuya kwabathathu kwabasanda kuzalwa abangu-7,500 kuya ku-10,000. Kodwa-ke, ngezinye izikhathi lezi zimpawu zicashile kakhulu. Ngakho-ke, kunezimo lapho izimpawu zezinye izingane zingatholakali. Ngakho-ke, kungase kube neziguli eziningi emphakathini kunalokho okubikiwe ngempela.

Yiziphi izimpawu eziyinhloko zalesi sifo?

Lena yingxenye ebaluleke kakhulu. Izimpawu ze-Stickler syndrome zingahluka kakhulu kumuntu nomuntu. Abanye abantu bangase babe nezimbalwa nje zalezi zimpawu, kanti abanye bangase babe neziningi. Ubukhulu bezimpawu nabo buyahlukahluka. Ukuze kube lula ukuqonda, ake sihlukanise lezi zimpawu zibe yizigaba.

Ingabe kunezinhlobo ezahlukene ze-Stickler syndrome?

Yebo, lesi sifo sihlukaniswe ngezinhlobo eziningana eziyinhloko kuye ngokuthi ukuguquka kwezakhi zofuzo kuyimbangela kanye nohlobo lwezimpawu. Njengamanje, sekutholakale izinhlobo eziyisithupha. Kodwa-ke, izinhlobo ezintathu zokuqala yizona ezivame kakhulu.

• Uhlobo I: Lolu uhlobo oluvame kakhulu. Lubonakala nge-myopia kanye nokulahlekelwa ukuzwa okuncane.
• Uhlobo II: Lokhu kuhambisana nokulahlekelwa ukuzwa okukhulu kanye nokukhubazeka kokubona.
• Uhlobo lwesithathu: Ukulahlekelwa ukuzwa nezinkinga zamalunga zivame kakhulu kulolu hlobo. Into ekhethekile ukuthi amehlo awathinteki kulolu hlobo.
• Izinhlobo IV, V, kanye ne-VI: Lezi zinhlobo azivamile futhi zingadala imiphumela emibi kakhulu emehlweni, ezindlebeni, kanye nasesimisweni samathambo.

Kungani lokhu kwenzeka? Iyini imbangela yalokhu?

Njengoba ngishilo ngaphambili, isizathu esiyinhloko salokhu ukukhubazeka kwezakhi zofuzo. I-Collagen iyiprotheni eyinhloko ezicutshini zomzimba wethu. Le collagen ifana "nensini" yomzimba. Kunezinhlobo eziningana zezakhi zofuzo ezifundisa ukukhiqizwa kwale collagen. Isibonelo, `(COL2A1, COL11A1, COL11A2)`.

Umuntu one-Stickler syndrome une-mutation noma isici kwenye yalezi zakhi zofuzo. Ngenxa yalokho, umzimba awukwazi ukukhiqiza i-collagen esezingeni elifanele. Yilokhu okubangela zonke izinkinga okukhulunywe ngazo ngaphambili.

Ingane ikuthola kanjani lokhu?

Lokhu ikakhulukazi kuyinto yesizukulwane.

• Ngokuvamile: Uma noma yimuphi umzali enokuguqulwa kwezakhi zofuzo, ingane inethuba elingu-50% lokulithola njengefa. Lokhu sikubiza ngokuthi iphethini ethi "autosomal dominant".
• Akuvamile: Ngisho noma bobabili abazali bephilile, kungenzeka ukuthi bobabili bathwale isakhi sofuzo esiguquliwe ngaphandle kokubonisa izimpawu, futhi ingane ingase izuze kokubili futhi ibe nalesi simo (i-autosomal recessive).
• Akuvamile kakhulu: Ngezinye izikhathi lesi simo singavela njengoguquko lwezakhi zofuzo olungahleliwe, ngaphandle kokuba noma ubani emndenini abe naso.

Ungasithola kanjani lesi sifo?

Uma usola ukuthi ingane yakho inalezi zimpawu, uma ubona udokotela, uzokwenza izivivinyo eziningana ukuze azame ukuqinisekisa lesi sifo.

• Ukuhlolwa okuphelele komzimba: Udokotela uhlola ngokucophelela izici zobuso zengane, ulwanga olungaphezulu, amehlo, izindlebe, kanye namalunga.
• Umlando wezokwelapha womndeni: Ukubuza ukuthi kukhona yini emndenini oke waba nalezi zimpawu kubaluleke kakhulu ekuxilongweni.
• Ukuhlolwa kokubona nokuzwa: Ukuhlolwa okukhethekile kwenziwa udokotela wamehlo kanye nochwepheshe wezindlebe, impumulo kanye nomphimbo.
• Ukuhlolwa kwezithombe:Ukuhlolwa okufana ne-X-ray kusetshenziselwa ukuhlola noma yikuphi ukukhubazeka komgogodla noma ukukhubazeka kwamalunga.
• Ukuhlolwa Kwezakhi Zofuzo: Lena yindlela kuphela yokuqinisekisa lesi sifo ngokuqinisekile. Kungathathwa isampula yegazi ukuze kutholakale ukuguquka kwezakhi zofuzo okubangela lokhu.

Iphathwa kanjani?

Okokuqala, i-Stickler syndrome ayisona isifo esingelapheki ngokuphelele. Ngoba yisimo sofuzo. Kodwa ungakhathazeki. Kunezindlela zokwelapha ezisebenza kahle kakhulu zokulawula izimpawu nezinkinga ezibangelwa yilesi sifo. Ukwelashwa kuhlelwa ngokwezimpawu zesiguli ngasinye.

• Ukuhlinzwa: Kungase kudingeke ukuhlinzwa ukuze kulungiswe ulwanga oluqhekekile, kuxhunywe kabusha i-retina ehlukanisiwe (lokhu kumele kwenziwe ngokushesha okukhulu), kusize ngezinkinga zokuphefumula, futhi kulungiswe noma kufakwe amanye amalunga awonakele.
• Izibuko Namalensi Okulungisa: Abantu abanokukhubazeka kokubona badinga ukusebenzisa izibuko noma amalensi okuxhumana.
• Izinsiza Zokuzwa: Lezi ziwusizo kakhulu kubantu abanenkinga yokuzwa.
• Ukwelashwa Komzimba: Kunconywa ukuvivinya umzimba ukuze kuqiniswe imisipha ezungeze amalunga, kuthuthukiswe ukuhamba kwamalunga, futhi kuncishiswe ubuhlungu.
• Ama-Painkiller: Udokotela uzokunikeza imithi efanele yokulawula ubuhlungu bamalunga.
• Ukwelashwa kwamazinyo kanye nokwelashwa kwamazinyo: Uma kukhona izinkinga ngokuma kwamazinyo, ukwelashwa kungadingeka.

Kungenzeka yini ukuphila impilo evamile unalesi simo?

Yebo, impela. Nakuba kungekho ikhambi lalokhu, lesi sifo asithinti isikhathi sokuphila komuntu. Into ebaluleke kakhulu ukuqaphela izimpawu kusenesikhathi, uzelaphe kahle, futhi uhlale uxhumana nodokotela wakho njalo. Uma lokho kwenzeka, abantu abaningi bangaphila impilo evamile, esebenzayo neyanelisayo.

Kukuziphi izimo lapho kufanele ubonane nodokotela?

Uma wena noma ingane yakho inalesi sifo, qaphela izimpawu ezilandelayo. Uma kuvela noma yiziphi zalezi zimpawu, bona udokotela wakho ngokushesha.

• Uma uzwa ubuhlungu obukhulu bamalunga .
• Uma ubona umbono ofiphele ngokuzumayo, ukukhanya, izinto ezintantayo, noma izithunzi embonweni wakho, lokhu kungaba izimpawu zokuhlukana kwe-retina. Lesi yisimo esidinga usizo oluphuthumayo lwezokwelapha.
• Uma ingane inenkinga yokudla noma ukuphuza.
• Uma kukhona igazi, uketshezi olufana nobovu oluvela endaweni yokuhlinzwa, ukuvuvukala, noma ukubomvu (lezi yizimpawu zokutheleleka).
• Uma unenkinga yokuphefumula , hamba ngokushesha esibhedlela esiseduze noMnyango Wezimo Eziphuthumayo (ETU).

Uma othile emndenini wakho enalesi sifo, futhi uhlela ukuba nomntwana, kubaluleke kakhulu ukukhuluma nodokotela wakho mayelana nokuthola ukwelulekwa ngofuzo.