Ingabe ingane yakho inezinkinga zamehlo, izindlebe, kanye namalunga ngesikhathi esisodwa? Lokhu kungaba yi-Stickler Syndrome!

Ngezinye izikhathi izingane zethu ezincane ziyagula ngokulandelana, akunjalo? Kodwa ezinye izingane zingase zibe nezinkinga eziningana ezibonakala zingahlobene, njengezinkinga zokubona , izinkinga zokuzwa, kanye nobuhlungu bamalunga. Ingabe uke waba nokuhlangenwe nakho okufanayo? Lokhu kumayelana nesimo sofuzo esibizwa ngokuthi i-Stickler Syndrome, esingabangela isimo esinjalo. Nakuba lokhu kungase kubonakale kuyinkimbinkimbi kancane, ake sixoxe ngakho kalula.

Kuyini i-Stickler Syndrome? Ukusho ngqo...

Kalula nje, i-Stickler syndrome iyisimo sezakhi zofuzo . Ibangelwa ushintsho ezakhini zethu zofuzo. Ithinta kakhulu izicubu ezixhumeneyo emzimbeni wethu. Lesi zicubu ezixhumeneyo uhlobo olukhethekile lwezicubu ezixhumanisa, zisekele, futhi zinike ukuma kwezinye izingxenye zomzimba wethu, njengezitho nezicubu. Cabanga ngakho njengokusebenzisa usimende nocingo ukuhlanganisa izindonga nophahla lwendlu yethu. Lesi zicubu ezixhumeneyo nazo zibalulekile emzimbeni wethu.

Ngakho-ke, kulesi simo se-Stickler syndrome, izicubu ezixhumeneyo ezindaweni ezifana nobuso, izindlebe, amehlo, kanye namalunga zithinteka kakhulu. Ngenxa yalokhu, ezinye izingane zingase zibe nezinguquko ezithile zobuso, njengomlomo oqhekekile. Kungase kube nezinkinga zokubona , ukuzwa, kanye nokunyakaza. Lokhu ngezinye izikhathi kubizwa ngokuthi i-Stickler dysplasia.

Sivame kangakanani lesi simo? Ubani okungenzeka kakhulu ukuthi sibe naso?

I-Stickler syndrome kulinganiselwa ukuthi ithinta eyodwa kuya kwezintathu kwezingu-7,500 kuya kwezingu-10,000 ezisanda kuzalwa. Kodwa-ke, ngenxa yokuthi lesi simo sivame ukungahlolwa kahle, kunzima ukusho ukuthi bangaki abantu abahlushwa yilesi simo.

Ngokuphathelene nokuthi ubani oyitholayo, noma ubani angathola i-Stickler syndrome. Kodwa-ke, uma othile emndenini, okungukuthi, umama, ubaba, noma umfowabo, enalesi simo, ingozi yokuba abanye basithole iphezulu. Kodwa-ke, ngezinye izikhathi, ngaphandle komlando womndeni, lesi sifo singavela futhi ngenxa yoshintsho olungahleliwe ezakhiweni zofuzo (`ukuguqulwa kwezakhi zofuzo` ) . Okusho ukuthi, akudingeki kube yinto ezuzwe njengefa.

I-Stickler Syndrome ithinta kanjani umzimba?

Njengoba sesike sakhuluma ngakho ngaphambili, lesi simo sithinta izicubu ezixhumeneyo. Omunye wemisebenzi eyinhloko yezicubu ezixhumeneyo emzimbeni wethu ukuvikela nokusekela ezinye izicubu nezitho zomzimba. Ngakho-ke, uma kukhona ukuguquka, noma iphutha, ku-gene eyenza le zicubu ezixhumeneyo, leso gene asitholi imiyalelo efanele yokuthi singazenza kanjani lezi zicubu ezixhumeneyo nokuthi kufanele zisebenze kanjani.

Yingakho, kumuntu one-Stickler syndrome,Ukubona, ukuzwa, kanye nokunyakaza kwamalunga kuyathinteka. Amehlo, izindlebe, kanye namalunga kuthinteka kakhulu. Abantu abane-Stickler syndrome bavame ukuba nesifo samathambo ebuntwaneni . Kodwa-ke, ngokwelashwa okufanele, izimpawu zingalawulwa futhi abantu abanalesi simo bangaphila impilo evamile nesebenzayo .

Ziyini izimpawu zalokhu? Ungakubona kanjani?

Izimpawu ze-Stickler syndrome zingahluka kumuntu nomuntu . Akuwona wonke umuntu ozoba nazo zonke izimpawu. Yilokho okwenza kube okukhethekile kangaka. Isibonelo, ingane eyodwa ingaba nezinkinga zamehlo eziningi, kanti enye ingaba nobuhlungu bamalunga amaningi.

Kunezinhlobo eziningana eziyinhloko zezimpawu ezingabonakala:

Izinkinga zamathambo namalunga:

• Ekuqaleni , amalunga angase aguquguquke kakhulu , kodwa ngokuhamba kwesikhathi angase aqale ukuqina .
• Kungase kube nokugoba komgogodla, noma i-scoliosis .
• Isifo samathambo singakhula sisencane. Cabanga nje uma ingane, engakayi ngisho neminyaka eyishumi ubudala, ivuka ekuseni ikhale ngobuhlungu emalungeni ayo, kufanele ukhathazeke.

Izinkinga zokuzwa nezindlebe:

• Ukulahlekelwa ukuzwa kungenzeka ngamazinga ahlukahlukene. Abanye abantu bangase balahlekelwe ukuzwa okuncane, kanti abanye bangase babe nomuzwa wokungezwa ngokuphelele.

Izinkinga zamehlo:

• Ukubona eduze kakhulu (noma i-myopia) kusho ukuthi izinto eziseduze kuphela ezingabonakala ngokucacile, kuyilapho izinto ezikude zingacacile.
• I-retina ehlukanisiwe. Lokhu kungenzeka ngokuzumayo futhi kudinga ukwelashwa okusheshayo.
• Ama-cataract .
• Ukwanda kwengcindezi esweni, okubizwa ngokuthi i-glaucoma.

Izici ezikhethekile ezibonakalayo ebusweni:

Ngokuvamile, isimo sobuso bezingane ezinalesi simo singathinteka nasekukhuleni kwazo.

• Umlomo oqhekekile : Lokhu kusho ukuthi kukhona isikhala ophahleni lomlomo.
• Umhlathi ongezansi omncane kakhulu futhi ogobile (`micrognathia`) : Lokhu ngezinye izikhathi kubizwa ngokuthi 'uchungechunge lukaPierre Robin'. Lokhu kungabangela ukuthi ezinye izingane zibe nobunzima bokuphefumula nokugwinya.
• Ubuso buba yisicaba futhi impumulo iba ncane.

Ezinye izimpawu:

Ngaphezu kwalokhu, ezinye izimpawu zingabonakala:

• Ubunzima bokuphefumula (ikakhulukazi ezinganeni ezine-micrognathia).
• Ubunzima bokudla ezinganeni ezisanda kuzalwa.
• Izinselele zokufunda ezibangelwa ukukhubazeka kokubona nokuzwa.

Okubalulekile: Akuwona wonke umuntu ozoba nazo zonke lezi zimpawu. Ungakhathazeki uma ingane yakho inesinye noma ezimbili zalezi zimpawu, kodwa uma ubona eziningana zazo ndawonye, ​​​​kungcono ukufuna iseluleko sezokwelapha.

Ingabe kunezinhlobo ezahlukene ze-Stickler Syndrome?

Yebo, kunezinhlobo eziyisithupha eziyinhloko ze-Stickler syndrome ezitholakele. Ubukhali kanye nohlobo lwezimpawu kuyahlukahluka kuye ngohlobo.

• Uhlobo I: Lolu uhlobo oluvame kakhulu . Ukulahlekelwa ukuzwa okuncane kanye nokungaboni kahle yizimpawu eziyinhloko.
• Uhlobo II: Lokhu kuthinteka kakhulu ukulahlekelwa ukuzwa kanye nokungaboni kahle.
• Uhlobo lwesithathu: Ukulahlekelwa ukuzwa nezinkinga zamalunga yizona zimpawu eziyinhloko. Izimpawu zokubona ngokuvamile azikho .
• Izinhlobo IV, V, kanye ne-VI: Lezi zinhlobo azivamile kakhulu . Zingaba nezinkinga ezinkulu zokubona nokuzwa. Zingaba nezimpawu eziyinkimbinkimbi kakhulu, njengeziphetho ezinde zamathambo amade (i-spondyloepiphyseal dysplasia) kanye ne-arthritis.

Odokotela banquma ukuthi umuntu ungowaluphi uhlobo ngokusekelwe ezimpawini nasezivivinyweni.

Iyini imbangela yalokhu? Iyini ithonya lezakhi zofuzo?

Imbangela eyinhloko ye-Stickler syndrome ukuguquka kwezakhi zofuzo . Lokhu kuguquka kungenzeka kunoma yiliphi lala ma-gene ayisithupha afundisa imizimba yethu ukuthi ikhiqize iphrotheni ekhethekile ebizwa ngokuthi i-collagen . I-Collagen yinto eyinhloko enikeza izicubu zethu ezixhumene ukuguquguquka namandla azo. Cabanga ngayo njengebhande lerabha, elizinika ukuguquguquka namandla.

Ngakho-ke, uma kukhona iphutha kulezi zakhi zofuzo, iphrotheni ye-collagen ayikhiqizwa kahle. Lokhu kuthinta kakhulu i-collagen eyakha i-cartilage yethu kanye nento efana ne-jelly engaphakathi kwamehlo ethu. Phakathi kwalezi zakhi zofuzo, izakhi zofuzo ezifana ne-`(COL2A1)`, `(COL11A1)`, `(COL11A2)` yizo eziyinhloko.

Uma ingane izuza njengefa elinye lala ma-gene aguqukile, ingase ibonise izimpawu ze-Stickler syndrome.

Lezi zakhi zofuzo zizuzwa kanjani njengefa?

Kunezindlela ezimbili eziyinhloko lokhu okuzuzwa ngazo njengefa:

• Ifomu elibusayo le-Autosomal:Lolu uhlobo oluvame kakhulu (ikakhulukazi izinhlobo I, II, kanye ne-III). Okwenzekayo lapha ukuthi noma ngabe umzali oyedwa une-gene mutation, kunethuba elingu-50% lokuthi ingane izolizuza njengefa.
• I-Autosomal recessive: Lokhu kuyinto engavamile (kungabonakala ezinhlotsheni ze-IV, V, kanye ne-VI). Lapha, bobabili abazali kumele babe ngabathwali abanempilo . Okusho ukuthi, abanazo izimpawu, kodwa banezakhi zofuzo eziguqukile. Uma kunjalo, kunethuba elingama-25% lokuthi ingane izozuza lesi simo njengefa.

Ngezinye izikhathi, ukuguquka kwezakhi zofuzo okusha (`de novo mutation`) kungenzeka ngokungahleliwe , ngaphandle komlando womndeni. Lezi zinto kunzima ukuzibikezela kusengaphambili.

Odokotela bakuthola kanjani lokhu?

Udokotela ulandela izinyathelo eziningana zokuxilonga i-Stickler syndrome.

• Umlando wezokwelapha womndeni onemininingwane kanye nokuhlolwa komzimba: Okokuqala, wena nomntwana wakho nizobuzwa ngezimpawu zenu nokuthi ngabe kukhona yini emndenini wakho oke waba nezimo ezifanayo. Ngemuva kwalokho, ingane yakho izohlolwa ukuze kubonakale ukuthi kukhona yini izici ezikhethekile ebusweni, ezindlebeni, emehlweni nasemalungeni.
• Ukuhlolwa kokubona nokuzwa: Lokhu kuhlolwa kwenziwa odokotela abangochwepheshe ukuze bahlole izinga lokubona nokuzwa.
• Ukuhlolwa kwezithombe: Ngezinye izikhathi ukuhlolwa okufana ne-X-ray kungenziwa ukuhlola noma yikuphi ukukhubazeka emathanjeni nasemalungeni.
• Ukuhlolwa kofuzo: Lokhu ukuhlolwa okuyinhloko okusiza ukwenza ukuxilongwa okuqondile. Kuthathwa isampula yegazi noma isampula yezicubu bese kuhlolwa ukuguquka kofuzo okubangela i-Stickler syndrome.

Ingabe lokhu kungatholakala ngaphambi kokuba umntwana azalwe?

Yebo, ngezinye izikhathi ukuhlolwa kwezakhi zofuzo ngaphambi kokubeletha kungakhomba noma yikuphi ukukhubazeka noma izinguquko ezakhiweni zofuzo zomntwana. Kodwa-ke, ukuxilongwa okuqondile kuvame ukwenziwa ngemva kokuzalwa komntwana, ngemva kokuhlolwa okuphelele ngokomzimba kanye nokuhlolwa okunye okudingekayo ukuqinisekisa izimpawu.

Yiziphi izindlela zokwelapha i-Stickler Syndrome?

Lena inkinga abantu abaningi abanayo. Okwamanje ayikho ikhambi le- Stickler syndrome. Kodwa ungakhathazeki. Kunezindlela eziningi zokwelapha ezisebenzayo zokulawula izimpawu nokunciphisa umthelela wazo . Ukuxilongwa kusenesikhathi kanye nokwelashwa yizinto ezibaluleke kakhulu. Ikakhulukazi ezimweni zezinkinga ze-retina noma amalunga ahlukene, ukwelashwa kusenesikhathi kungavimbela umonakalo omkhulu.

Izindlela zokwelapha ziyahlukahluka kuye ngezimpawu. Nazi ezinye zezindlela zokwelapha eziyinhloko:

• Thuthukisa ukubonaUkuhlinzeka ngezibuko zamehlo noma ama-contact lens.
• Ukunikeza izinsiza zokuzwa ukuze kuthuthukiswe ukuzwa.
• Ukunikeza imithi yokunciphisa ubuhlungu bamalunga.
• Uma kukhona ukugoba noma ukungalungi kwamazinyo, ukwelashwa ngamazinyo kungenziwa ukuze kulungiswe.
• Ukwelashwa ngokomzimba ( njengokuzivocavoca okukhethekile) ukuqinisa amalunga nokuthuthukisa ukuhamba.
• Ukuhlinzwa:
• Ukufakelwa kabusha kwe-retina ehlukanisiwe (ukuhlinzwa kokufakelwa kabusha kwe-retinal).
• Ukulungiswa komlomo oqhekekile.
• Uma ukuphefumula kunzima, ipayipi elincane lingafakwa entanyeni ukuze kube lula ukuphefumula (mhlawumbe i-tracheostomy).
• Lungisa noma shintsha amalunga onakele.

Ngale ndlela yokwelapha, izingane kanye nabantu abadala abane-Stickler syndrome bathola usizo olukhulu ekuphileni impilo evamile, egcwele, nesebenzayo .

Ingabe lesi simo singavinjelwa?

I-Stickler syndrome iyisimo sofuzo, ngakho-ke ayinakuvinjelwa . Kodwa-ke, uma othile emndenini wakho enalesi simo futhi uhlela ukuba nomntwana, ukwelulekwa ngofuzo kanye nokuhlolwa kofuzo kungakusiza uqonde ingozi yokuthi ingane yakho ithole lesi simo njengefa.

Yini ongayilindela uma uphila ne-Stickler Syndrome?

Nakuba kungekho ukwelashwa kwalesi simo, akusithinti isikhathi sokuphila komuntu . Okusho ukuthi, abantu abanalesi simo baphila isikhathi sokuphila esijwayelekile njengabo bonke abanye. Ngokuqapha njalo kwezokwelapha, ukwelashwa okudingekayo, kanye nokusekelwa, abantu abaningi baphila impilo esebenzayo neyanelisayo.

Into ebaluleke kakhulu ukuxilonga lesi sifo ebuntwaneni noma ebuntwaneni . Ngemuva kwalokho, izimpawu zingaphathwa ngokushesha futhi izinkinga ezingase zivele esikhathini esizayo zingavinjelwa.

Ngezinye izikhathi izimpawu zingabuya ngisho nangemva kokwelashwa. Isibonelo, noma ngabe uhlinzwe ukuze kususwe i-retina ehlukanisiwe, lesi simo singabuya. Ngakho-ke, kubaluleke kakhulu ukuya njalo ekuhlolweni kwezokwelapha futhi unake izimpawu zakho .

Ingabe kukhona umthelela emisebenzini yansuku zonke?

Lokhu kuyahlukahluka kumuntu nomuntu, kuye ngohlobo lwezimpawu. Abanye abantu bangase bangabi nomthelela omkhulu, kanti abanye kungase kudingeke baphile nemingcele ethile. Ikakhulukazi, odokotela bacebisa ukugwema imidlalo yokuxhumana , njenge-rugby nebhola, njengoba ingozi yokuqhekeka kwe-retina iphezulu kuleyo midlalo.

Kufanele ubonane nini nodokotela?

Uma wena noma ingane yakho ninezimpawu ocabanga ukuthi zingase zihlobene ne-Stickler syndrome futhi zithinta imisebenzi yakho yansuku zonke kuze kube yilapho ungakwazi ukusebenza kahle, qiniseka ukuthi ubona udokotela.

• Uma unezinhlungu ezinkulu zamalunga .
• Uma umbono wakho ushintsha ngokuzumayo (isibonelo, umbono ofiphele, ukubona izibani zikhanya phambi kwamehlo akho, ukubona amachashazi amnyama noma amanethi entanta phambi kwamehlo akho, noma uzizwa njengesithunzi engxenyeni yombono wakho - lokhu kungaba izimpawu ze-retina ehlukanisiwe).
• Uma unenkinga yokugwinya ukudla noma isiphuzo.
• Uma indawo lapho ukuhlinzwa kwenziwe khona ivuza igazi, ivuvukele, noma inoketshezi oluphuzi (lokhu kungasho ukutheleleka).

Okubaluleke kakhulu: Uma wena noma ingane yakho ninenkinga yokuphefumula , kuyisimo esiphuthumayo. Yiya esibhedlela esiseduze ngokushesha, noma ushayele u-1990.

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela?

Uma usuyazi ukuthi wena noma ingane yakho ine-Stickler syndrome, ungabuza udokotela imibuzo efana nale:

• Ingabe lesi simo esibizwa ngokuthi i-Stickler Syndrome sibi kangakanani?
• Iyini imbangela yalokhu?
• Lokhu kuzothinta kanjani impilo yansuku zonke yengane yami?
• Yiziphi izinkinga okufanele ngikhathazeke ngazo kakhulu? Ziyini izimpawu zazo?

Ngaphezu kwale mibuzo, khuluma nodokotela wakho nganoma yini oyicabangayo, noma yikuphi ukwesaba, noma ukungabaza onakho.

Okokugcina, amaphuzu abaluleke kakhulu (Umyalezo Wokuya Ekhaya)

I-Stickler syndrome ingaba yinto eyesabekayo ukuyizwa. Kodwa khumbula lezi zinto:

• Lesi yisimo sofuzo , hhayi into ebangelwa ukunganaki kwakho.
• Ngenxa yokuthi ithinta kakhulu izicubu ezixhumeneyo , ingabangela izinguquko emehlweni, ezindlebeni, emalungeni nasebusweni.
• Izimpawu zingahluka kakhulu kumuntu nomuntu .
• Nakuba kungekho ikhambi eliphelele, kunezindlela eziningi zokwelapha ezitholakalayo zokusiza ukulawula izimpawu nokuphila impilo engcono .
• Ukuxilongwa kusenesikhathi kanye nokuqala ukwelashwa kuyindlela engcono kakhulu yokuthola imiphumela ephumelelayo.
• Uma othile emndenini wakho enalesi simo, kubalulekile ukuthola ukwelulekwa ngofuzo .

Ngokungathuki nangokulandela iseluleko esifanele sezokwelapha, umuntu one-Stickler syndrome angabeka isisekelo sempilo enhle njengawo wonke umuntu. Uma uneminye imibuzo, ungangabazi ukukhuluma nodokotela.

I- Stickler syndrome, izifo zofuzo, izicubu ezixhumeneyo, i-collagen, ukukhubazeka kokubona, ukukhubazeka kokuzwa, izinkinga zamalunga, impilo yezingane