Ingaba umntwana wakho uneengxaki zamehlo, iindlebe, kunye namalungu ngaxeshanye? Oku kusenokuba yiStickler Syndrome!

Ngamanye amaxesha abantwana bethu abancinci bayagula omnye emva komnye, akunjalo? Kodwa abanye abantwana banokuvela ngequbuliso iingxaki ezininzi ezingadibaniyo, njengeengxaki zokubona , iingxaki zokuva, kunye nentlungu yamalungu. Ngaba ukhe waba namava afanayo? Oku kumalunga nesifo semfuza esibizwa ngokuba yiStickler Syndrome, esinokubangela eso simo. Nangona oku kunokubonakala kunzima kancinci, masithethe ngako ngokulula.

Yintoni iStickler Syndrome? Ukuchaneka...

Ngamafutshane, i-Stickler syndrome yimeko yemfuza . Ibangelwa kukutshintsha kwezakhi zofuzo zethu. Ichaphazela kakhulu izicwili ezidityanisiweyo emzimbeni wethu. Ezi zicwili ezidityanisiweyo luhlobo olukhethekileyo lwezicwili ezidibanisa, ezixhasa, nezinika imilo kwezinye iindawo zomzimba wethu, njengezitho kunye nezicwili. Cinga ngayo njengokusebenzisa isamente kunye nocingo ukubamba iindonga kunye nophahla lwendlu yethu kunye. Ezi zicwili ezidityanisiweyo zibalulekile nasemzimbeni wethu.

Ngoko ke, kwimeko ye-Stickler syndrome, izicubu ezinxibelelanayo kwiindawo ezifana nobuso, iindlebe, amehlo, kunye namalungu zichaphazeleka kakhulu. Ngenxa yoku, abanye abantwana banokuba notshintsho oluthile ebusweni, njengomqolo oqhekekileyo. Kunokubakho neengxaki zokubona , ukuva, kunye nokuhamba. Oku ngamanye amaxesha kubizwa ngokuba yi-Stickler dysplasia.

Ixhaphake kangakanani le meko? Ngubani onokuba nayo?

I-Stickler syndrome kuqikelelwa ukuba ichaphazela umntwana omnye ukuya kwabathathu kwiintsana ezisandul’ ukuzalwa ezingama-7,500 ukuya kwi-10,000. Nangona kunjalo, ngenxa yokuba esi sifo sidla ngokungafumaneki kakuhle, kunzima ukutsho ukuba bangaphi abantu abanengxaki yaso.

Ngokuphathelele ukuba ngubani ofumana le ngxaki, nabani na unokufumana i-Stickler syndrome. Nangona kunjalo, ukuba umntu kusapho, oko kukuthi, umama, utata, okanye umntakwenu, unesi sifo, umngcipheko wokuba abanye basifumane uphezulu. Nangona kunjalo, ngamanye amaxesha, ngaphandle kwembali yosapho, esi sifo sinokubakho ngenxa yotshintsho olungalindelekanga kwiijini (`uguquko lwemfuza` ) . Oko kukuthi, akufuneki ukuba yinto ezuzwe njengelifa.

I-Stickler Syndrome iyichaphazela njani umzimba?

Njengoko besikhe sathetha ngayo ngaphambili, le meko ichaphazela izicwili ezidityanisiweyo. Omnye wemisebenzi ephambili yezicwili ezidityanisiweyo emzimbeni wethu kukukhusela nokuxhasa ezinye izicwili kunye namalungu omzimba. Ngoko ke, xa kukho utshintsho, okanye isiphene, kwijini eyenza ezi zicwili ezidityanisiweyo, loo jini ayifumani miyalelo ichanekileyo yokwenza ezi zicwili ezidityanisiweyo kunye nendlela ekufuneka zisebenze ngayo.

Yiyo loo nto, kumntu one-Stickler syndrome,Umbono, ukuva, kunye nokuhamba kwamalungu kuyachaphazeleka. Amehlo, iindlebe, kunye namalungu achaphazeleka kakhulu. Abantu abane-Stickler syndrome badla ngokuba nesifo samathambo ebuntwaneni . Nangona kunjalo, ngonyango olufanelekileyo, iimpawu zinokulawulwa kwaye abantu abanale meko banokuphila ubomi obuqhelekileyo nobusebenzayo .

Zithini iimpawu zoku? Ungazibona njani?

Iimpawu zeStickler syndrome zingahluka kumntu nomntu . Asinguye wonke umntu oza kuba nazo zonke ezi mpawu. Yiyo loo nto eyenza ukuba ibe yekhethekileyo. Umzekelo, omnye umntwana unokuba neengxaki zamehlo ezininzi, ngelixa omnye enokuba neentlungu zamalungu.

Kukho iindidi eziphambili zeempawu ezinokubonwa:

Iingxaki zamathambo namalungu:

• Ekuqaleni , amalungu anokuba buthathaka kakhulu , kodwa ekuhambeni kwexesha angaqala ukuqina .
• Kunokwenzeka ukugoba komqolo, okanye i-scoliosis .
• Isifo samathambo sinokukhula emncinci. Khawuthelekelele ukuba umntwana, ongekafiki neminyaka elishumi ubudala, uvuka kusasa ekhalaza ngentlungu emalungeni akhe, kufanele ukuba ukhathazekile.

Iingxaki zokuva kunye neendlebe:

• Ukulahlekelwa kukuva kunokwenzeka ngamanqanaba ahlukeneyo. Abanye abantu banokufumana ukulahlekelwa kukuva okuncinci, ngelixa abanye banokufumana ukungeva ngokupheleleyo.

Iingxaki zamehlo:

• Ukungaboni kakuhle (okanye i-myopia) kuthetha ukuba zizinto ezikufutshane kuphela ezinokubonakala ngokucacileyo, ngelixa izinto ezikude zingacacanga.
• I-retina ehlukanisiweyo. Oku kungenzeka ngequbuliso kwaye kufuna unyango olukhawulezileyo.
• IiCataracts .
• Uxinzelelo oluphezulu emehlweni, olubizwa ngokuba yi-glaucoma.

Iimpawu ezikhethekileyo ezibonakalayo ebusweni:

Amaxesha amaninzi, imo yobuso yabantwana abanale meko inokuchaphazela nokukhula kwabo.

• Incakuba eqhekekileyo : Oku kuthetha ukuba kukho umsantsa eluphahleni lomlomo.
• Umhlathi ongezantsi omncinci nowomileyo (`micrognathia`) : Oku ngamanye amaxesha kubizwa ngokuba yi-`Pierre Robin sequence`. Oku kunokubangela ukuba abanye abantwana babe nobunzima bokuphefumla nokuginya.
• Ubuso buba buthathaka kwaye impumlo iba ncinci.

Ezinye iimpawu:

Ukongeza koku, ezinye iimpawu zingabonakala:

• Ubunzima bokuphefumla (ingakumbi kubantwana abane-micrognathia).
• Ubunzima bokutya kwiintsana ezisandul’ ukuzalwa.
• Imingeni yokufunda ngenxa yokuphazamiseka kokubona nokuva.

Kubalulekile: Asinguye wonke umntu oza kuba nazo zonke ezi mpawu. Musa ukukhathazeka ukuba umntwana wakho unenye okanye ezimbini kwezi mpawu, kodwa ukuba ubona ezininzi zazo kunye, kungcono ukufuna ingcebiso kagqirha.

Ngaba kukho iintlobo ezahlukeneyo zeStickler Syndrome?

Ewe, kukho iintlobo ezintandathu eziphambili zeStickler syndrome ezichongiweyo. Ubunzima kunye nohlobo lweempawu ziyahluka ngokuxhomekeke kwezi ntlobo.

• Uhlobo I: Olu lolona hlobo luxhaphakileyo . Ukulahlekelwa kukuva okuncinci kunye nokungaboni kakuhle zezona mpawu ziphambili.
• Uhlobo lwesibini: Oku kuchaphazeleka kakhulu kukulahlekelwa kukuva kunye nokungaboni kakuhle.
• Uhlobo lwesithathu: Ukulahlekelwa kukuva kunye neengxaki zamalungu zezona mpawu ziphambili. Iimpawu zokubona zihlala zingabikho .
• Iintlobo ze-IV, V, kunye ne-VI: Ezi ntlobo zinqabile kakhulu . Zinokuba neengxaki ezinkulu zokubona nokuva. Zinokuba neempawu ezinzima ngakumbi, ezifana neziphelo ezinde zamathambo amade (i-spondyloepiphyseal dysplasia) kunye ne-arthritis.

Oogqirha bagqiba ukuba umntu uluhlobo luni ngokusekwe kwiimpawu kunye novavanyo.

Yintoni imbangela yoku? Iyintoni impembelelo yemfuza?

Eyona nto ibangela i-Stickler syndrome kukuguquka kwezakhi zofuzo . Olu tshintsho lunokwenzeka nakweyiphi na kwiijini ezintandathu ezifundisa imizimba yethu ukuba ivelise iproteni ekhethekileyo ebizwa ngokuba yi-collagen . I-Collagen yeyona nto iphambili enika izicubu zethu ezinxibelelanayo ukuguquguquka namandla azo. Cinga ngayo njengebhanti yerabha, enika ukuguquguquka namandla.

Ngoko ke, xa kukho isiphene kwezi jini, iproteni ye-collagen ayiveliswanga kakuhle. Oku kuchaphazela kakhulu i-collagen eyenza i-cartilage yethu kunye nento efana nejeli engaphakathi kwamehlo ethu. Phakathi kwezi jini, iijini ezifana ne-`(COL2A1)`, `(COL11A1)`, `(COL11A2)` zezona ziphambili.

Ukuba umntwana uzuze enye yezi gene eziguqukileyo, unokubonisa iimpawu zeStickler syndrome.

Ezi genes zizuzwa njani njengelifa?

Kukho iindlela ezimbini eziphambili ezifunyanwa ngayo oku njengelifa:

• Uhlobo oluphambili lwe-Autosomal:Olu lolona hlobo luxhaphakileyo (ingakumbi uhlobo I, II, kunye nolwesi-III). Okwenzekayo apha kukuba nokuba omnye umzali une-gene mutation, kukho amathuba angama-50% okuba umntwana ayifumane njengelifa.
• I-Autosomal recessive: Oku kunqabile kancinci (kunokubonwa kwiintlobo ze-IV, V, kunye ne-VI). Apha, bobabini abazali kufuneka babe ngabathwali abasempilweni . Oko kukuthi, abanazo iimpawu, kodwa bane-gene eguqukileyo. Ukuba kunjalo, kukho amathuba angama-25% okuba umntwana azuze esi sifo njengelifa.

Ngamanye amaxesha, utshintsho olutsha lwemfuza (`de novo mutation`) lunokwenzeka ngokungacwangciswanga , ngaphandle kwembali yosapho. Ezi zinto kunzima ukuzixela kwangaphambili.

Oogqirha bayixilonga njani le nto?

Ugqirha ulandela amanyathelo aliqela ukuze afumanise isifo seStickler.

• Imbali yezonyango yosapho eneenkcukacha kunye novavanyo lomzimba: Okokuqala, wena nomntwana wakho niza kubuzwa ngeempawu zenu kunye nokuba kukho nabani na kusapho lwakho okhe waba neemeko ezifanayo na. Emva koko, umntwana wakho uza kuhlolwa ukuze kubonwe ukuba kukho naziphi na iimpawu ezikhethekileyo ebusweni, ezindlebeni, emehlweni, nasemalungeni omzimba.
• Uvavanyo lokubona nokuva: Olu vavanyo lwenziwa ngoogqirha abaziingcali ukuze bavavanye umgangatho wokubona nokuva.
• Uvavanyo lokufota: Ngamanye amaxesha uvavanyo olufana ne-X-ray lunokwenziwa ukujonga naziphi na iingxaki emathanjeni nasemalungeni.
• Uvavanyo lwemfuza: Olu lolona vavanyo luphambili olunceda ekwenzeni uxilongo oluchanekileyo. Kuthathwa isampuli yegazi okanye isampuli yezicubu kwaye kuvavanywe utshintsho lwemfuza olubangela i-Stickler syndrome.

Ngaba oku kungabonwa ngaphambi kokuba umntwana azalwe?

Ewe, ngamanye amaxesha uvavanyo lwemfuza ngaphambi kokukhulelwa lunokuchonga naziphi na iingxaki okanye utshintsho kwimfuza yomntwana. Nangona kunjalo, ukuxilongwa okuqinisekileyo kudla ngokwenziwa emva kokuba umntwana ezelwe, emva kokuhlolwa okupheleleyo komzimba kunye nezinye iimvavanyo ezifunekayo ukuqinisekisa iimpawu.

Ziziphi iindlela zonyango lweStickler Syndrome?

Le yingxaki abantu abaninzi abanayo. Okwangoku akukho nyango lweStickler syndrome. Kodwa ungakhathazeki. Kukho unyango oluninzi olusebenzayo lokulawula iimpawu nokunciphisa impembelelo yazo . Ukuxilongwa kwangoko kunye nonyango zezona zinto zibalulekileyo. Ingakumbi kwiimeko zeengxaki ze-retina okanye amalungu aqhekekileyo, unyango lwasekuqaleni lunokuthintela umonakalo omkhulu.

Iindlela zonyango ziyahluka ngokuxhomekeke kwiimpawu. Nazi ezinye zeendlela zonyango eziphambili:

• Phucula ukubonaUkubonelela ngeeglasi zamehlo okanye iilensi zokunxibelelana.
• Ukubonelela ngezixhobo zokuncedisa ukuva ukuphucula ukuva.
• Ukunika amayeza okunciphisa iintlungu zamalungu.
• Ukuba kukho ukugoba okanye ukungalungi kakuhle kwamazinyo, unyango lwe-orthodontic lunokwenziwa ukuze lulungiswe.
• Unyango lomzimba ( njengokwenza umthambo okhethekileyo) ukuqinisa amalungu nokuphucula ukuhambahamba.
• Utyando:
• Ukufakelwa kwakhona kwe-retina ehlukanisiweyo (utyando lokufakelwa kwakhona kwe-retina).
• Ukulungiswa kwenkalakahla eqhekekileyo.
• Ukuba ukuphefumla kunzima, umbhobho omncinci ungafakwa entanyeni ukuze kube lula ukuphefumla (mhlawumbi i-tracheostomy).
• Lungisa okanye utshintshe amalungu onakeleyo.

Ngale ndlela yonyango, abantwana kunye nabantu abadala abane-Stickler syndrome bafumana uncedo olukhulu lokuphila ubomi obuqhelekileyo, obupheleleyo, nobusebenzayo .

Ngaba le meko ingathintelwa?

I-Stickler syndrome yimeko yemfuza, ngoko ke ayinakuthintelwa . Nangona kunjalo, ukuba kukho umntu kusapho lwakho onayo le meko kwaye uceba ukuba nomntwana, iingcebiso ngemfuza kunye novavanyo lwemfuza kunokukunceda uqonde umngcipheko wokuba umntwana wakho afumane esi sifo njengelifa.

Yintoni onokuyilindela xa uphila neStickler Syndrome?

Nangona kungekho nyango lwale meko, aluchaphazeli ubomi bomntu . Oko kukuthi, abantu abanale meko baphila ubomi obuqhelekileyo njengaye wonke umntu. Ngokujongwa rhoqo ngugqirha, unyango olufunekayo, kunye nenkxaso, abantu abaninzi baphila ubomi obukhutheleyo nobanelisayo.

Eyona nto ibalulekileyo kukufumanisa esi sifo kwasebuntwaneni okanye kwasebuntwaneni . Emva koko, iimpawu zinokulawulwa ngokukhawuleza kwaye iingxaki ezinokuvela kwixesha elizayo zinokuthintelwa.

Ngamanye amaxesha iimpawu zingaphinda zibuye nasemva konyango. Umzekelo, nokuba wenze utyando lokususa i-retina ehlukanisiweyo, le meko ingaphinda ibuye. Ke ngoko, kubaluleke kakhulu ukuya kuvavanyo lwezonyango rhoqo kwaye unike ingqalelo kwiimpawu zakho .

Ingaba kukho impembelelo kwimisebenzi yemihla ngemihla?

Oku kuyahluka kumntu nomntu, kuxhomekeke kuhlobo lweempawu. Abanye abantu basenokungabi nampembelelo ingako, ngelixa abanye banokuphila nemida ethile. Ngokukodwa, oogqirha bacebisa ukuba kuphetshwe imidlalo yokudibanisa , efana neragbi kunye nebhola ekhatywayo, njengoko umngcipheko wokuqhekeka kwe-retina uphezulu kwimidlalo enjalo.

Ufanele uye nini kugqirha?

Ukuba wena okanye umntwana wakho nineempawu ocinga ukuba zinokunxulunyaniswa ne-Stickler syndrome kwaye zichaphazela imisebenzi yakho yemihla ngemihla kangangokuba awukwazi ukusebenza, qiniseka ukuba ubona ugqirha.

• Ukuba unentlungu enzulu yamalungu .
• Ukuba umbono wakho utshintsha ngequbuliso (umzekelo, umbono ofipheleyo, ukubona izibane zikhanya phambi kwamehlo akho, ukubona amachaphaza amnyama okanye iinethi zidada phambi kwamehlo akho, okanye uzive ngathi lithunzi kwinxalenye yombono wakho - ezi zisenokuba ziimpawu ze-retina ehlukanisiweyo).
• Ukuba unengxaki yokuginya ukutya okanye isiselo.
• Ukuba indawo apho kwenziwe khona utyando ivuza igazi, idumbile, okanye inomthubi ophumayo (oku kunokuthetha ukuba kukho usulelo).

Okubaluleke kakhulu: Ukuba wena okanye umntwana wakho ninengxaki yokuphefumla , yingxamiseko leyo. Yiya esibhedlele esikufutshane ngoko nangoko, okanye utsalele umnxeba ku-1990.

Yeyiphi imibuzo ebalulekileyo ekufuneka uyibuze ugqirha?

Wakuba wazi ukuba wena okanye umntwana wakho une-Stickler syndrome, ungabuza ugqirha imibuzo efana nale:

• Ingakanani ingxaki ebizwa ngokuba yiStickler Syndrome?
• Yintoni isizathu soku?
• Oku kuza kuyichaphazela njani ubomi bemihla ngemihla bomntwana wam?
• Ziziphi iingxaki ekufuneka ndizixhalabele kakhulu? Zithini iimpawu zazo?

Ukongeza kule mibuzo, thetha nogqirha wakho ngayo nayiphi na into oyicingayo, uloyiko, okanye amathandabuzo onawo.

Okokugqibela, amanqaku abaluleke kakhulu (Umyalezo Wokuya Ekhaya)

I-Stickler syndrome inokuba yinto eyoyikisayo ukuyiva. Kodwa khumbula ezi zinto zilandelayo:

• Le yimeko yemfuza , ayibangelwa kukungakhathali kwakho.
• Ngenxa yokuba ichaphazela kakhulu izicwili ezidityanisiweyo , inokubangela utshintsho emehlweni, ezindlebeni, emalungwini nasebusweni.
• Iimpawu zinokwahluka kakhulu kumntu nomntu .
• Nangona kungekho nyango lupheleleyo, kukho iindlela ezininzi zonyango ezifumanekayo zokunceda ukulawula iimpawu nokuphila ubomi obungcono .
• Ukuxilongwa kwangoko kunye nokuqaliswa konyango yeyona ndlela ilungileyo yokufumana iziphumo eziphumelelayo.
• Ukuba kukho umntu kusapho lwakho onale meko, kubalulekile ukufumana ingcebiso ngemfuza .

Ngokungaphakuzeli nangokulandela icebiso elifanelekileyo lezonyango, umntu one-Stickler syndrome unokubeka ubomi obulungileyo njengaye wonke umntu. Ukuba uneminye imibuzo, ungathandabuzi ukuthetha nogqirha.

I- Stickler syndrome, izifo zemfuza, izicwili ezidityanisiweyo, i-collagen, ukukhubazeka kokubona, ukukhubazeka kokuva, iingxaki zamalungu, impilo yabantwana