Ngaba umntwana wakho unazo ezi mpawu? Masifunde ngeStickler Syndrome

Ngaba umntwana wakho omncinci uhlala eneengxaki zamehlo, ukuva, okanye iintlungu zamalungu? Mhlawumbi ezi zinto zihamba notshintsho oluthile lobuso, kunokuba kubaluleke kakhulu ukuqaphela le meko sithetha ngayo namhlanje. Nangona eli ligama ongalaziyo kancinci, kubaluleke kakhulu kuwe njengomama okanye utata ukuqaphela le meko. Kuba okukhona uyiqaphela ngokukhawuleza, kokukhona ufumana amathuba amaninzi okunceda umntwana wakho.

Ngamafutshane, yintoni iStickler Syndrome?

Kulungile, masiqonde oku ngokulula. Khawucinge ukuba umzimba wethu sisakhiwo esakhiwe kakuhle. Kule sakhiwo, yonke into efana nezitena, iindonga, nophahla inesimende sesamente esibamba yonke into kunye kwaye sizinike amandla kunye nokuma, akunjalo? Ngokufanayo, onke amalungu emzimbeni wethu njengamathambo, ulusu, amehlo, kunye neendlebe zinothungelwano olukhethekileyo lwezicubu ezibamba yonke into kunye kwaye zizinike amandla kunye nokuguquguquka. Ezi zicubu sizibiza ngokuba zi -connective tissues .

I-Stickler syndrome yimeko ebangelwa sisiphene kwiijini eziyalela ukuveliswa kwezicubu ezidityanisiweyo. Kanye njengokuba kwenzeka kwisakhiwo xa umgangatho wesamente uncipha, xa ezi zicubu ezidityanisiweyo zibuthathaka, iindawo ezahlukeneyo zomzimba wethu zinokuchaphazeleka, ingakumbi uphuhliso lwamehlo, iindlebe, amalungu kunye nobuso . Le yimeko yelifa.

Ixhaphake kangakanani le meko?

Esi asisosifo sixhaphakileyo. Ngokwezibalo, esi sifo senzeka malunga nesinye ukuya kwezintathu kwiintsana ezisandul’ ukuzalwa ezingama-7,500 ukuya kwi-10,000. Nangona kunjalo, ngamanye amaxesha ezi mpawu azibonakali kakuhle. Ke ngoko, kukho iimeko apho iimpawu zabanye abantwana zingafunyaniswa. Ke ngoko, kunokubakho izigulane ezininzi kuluntu kunokuba zixeliwe ngokwenene.

Ziziphi iimpawu eziphambili zesi sifo?

Le yeyona nxalenye ibalulekileyo. Iimpawu zeStickler syndrome zinokwahluka kakhulu kumntu nomntu. Abanye abantu banokuba nezimbalwa nje zezi mpawu, ngelixa abanye banokuba nazo ezininzi. Ubunzima beempawu nabo buyahluka. Ukuze kube lula ukuqonda, masizahlule ezi mpawu zibe ziindidi ezahlukeneyo.

Ngaba kukho iintlobo ezahlukeneyo zeStickler syndrome?

Ewe, esi sifo sahlulwe saba ziintlobo ezininzi eziphambili ngokuxhomekeke kutshintsho lwemfuza olusibangelayo kunye nohlobo lweempawu. Okwangoku, iintlobo ezi-6 zichongiwe. Nangona kunjalo, iintlobo ezintathu zokuqala zezona zixhaphakileyo.

• Uhlobo I: Olu lolona hlobo luxhaphakileyo. Luphawulwa yi-myopia kunye nokulahlekelwa kancinci kokuva.
• Uhlobo lwesibini: Oku kuhamba nokulahlekelwa kakhulu kukuva kunye nokuphazamiseka kokubona.
• Uhlobo lwesithathu: Ukulahlekelwa kukuva kunye neengxaki zamalungu zixhaphakile kolu hlobo. Into ekhethekileyo kukuba amehlo awachaphazeleki kolu hlobo.
• Iintlobo ze-IV, V, kunye ne-VI: Ezi ntlobo zinqabile kakhulu kwaye zinokubangela iziphumo ezibi kakhulu emehlweni, ezindlebeni, nakwinkqubo yamathambo.

Kutheni oku kusenzeka? Yintoni isizathu sale nto?

Njengoko benditshilo ngaphambili, isizathu esiphambili soku sisiphene semfuza. I-Collagen yiproteni ephambili kwizicubu zomzimba wethu. Le collagen ifana "nentsini" yomzimba. Kukho iintlobo ezahlukeneyo zezakhi zofuzo eziyalela ukuveliswa kwale collagen. Umzekelo, `(COL2A1, COL11A1, COL11A2)`.

Umntu one-Stickler syndrome une-mutation okanye isiphene kwenye yezi gene. Ngenxa yoko, umzimba awukwazi ukuvelisa i-collagen esemgangathweni efunekayo. Yiyo le nto ibangela zonke iingxaki ezikhankanyiweyo ngaphambili.

Umntwana ufumana njani oku?

Oku ikakhulu yinto yesizukulwana.

• Amaxesha amaninzi: Ukuba umzali ngamnye une-gene mutation, umntwana unethuba elingama-50% lokuyifumana njengelifa. Oku sikubiza ngokuba yi-"autosomal dominant pattern".
• Amaxesha amaninzi: Nokuba abazali bobabini baphilile, kunokwenzeka ukuba bobabini bathwale i-gene eguquliweyo ngaphandle kokubonisa iimpawu, kwaye umntwana unokuzizuza zombini ezi mpawu aze aphuhlise le meko (i-autosomal recessive).
• Akuqhelekanga kakhulu: Ngamanye amaxesha le meko inokwenzeka njengotshintsho olungaqhelekanga lwezakhi zofuzo, ngaphandle kokuba nabani na kusapho abe nalo.

Indlela yokuxilonga esi sifo?

Ukuba ukrokrela ukuba umntwana wakho unale mpawu, xa ubona ugqirha, uya kwenza iimvavanyo ezininzi ukuze azame ukuqinisekisa isifo.

• Uvavanyo olupheleleyo lomzimba: Ugqirha uhlola ngenyameko iimpawu zobuso bomntwana, inkalakahla engasentla, amehlo, iindlebe kunye namalungu omzimba.
• Imbali yezonyango yosapho: Ukubuza ukuba kukho nabani na kusapho okhe waba nezi mpawu kubaluleke kakhulu ekuxilongweni.
• Ukuhlolwa kokubona nokuva: Uvavanyo olukhethekileyo lwenziwa yingcali yamehlo kunye nengcali yeendlebe, impumlo nomqala.
• Uvavanyo lomfanekiso:Uvavanyo olufana ne-X-ray lusetyenziselwa ukujonga naziphi na iingxaki zomqolo okanye iingxaki ezimalunga.
• Uvavanyo lweMfuzo: Le yindlela ekuphela kwayo yokuqinisekisa ngokuqinisekileyo ukuba isifo sikhona. Isampuli yegazi ingathathwa ukuze kuchongwe utshintsho oluthile lwemfuza olusibangelayo.

Iphathwa njani?

Okokuqala, i-Stickler syndrome ayisosifo esinokunyangeka ngokupheleleyo. Kuba yimeko yemfuza. Kodwa ungakhathazeki. Kukho unyango olusebenzayo kakhulu lokulawula iimpawu kunye neengxaki ezibangelwa sesi sifo. Unyango lucwangcisiwe ngokweempawu zesigulana ngasinye.

• Utyando: Kunokufuneka utyando ukuze kulungiswe i-cleft palate, kufakwe kwakhona i-retina eqhekekileyo (oku kufuneka kwenziwe ngokukhawuleza), kuncedwe kwiingxaki zokuphefumla, kwaye kulungiswe okanye kutshintshwe amalungu awonakeleyo.
• Iiglasi kunye neeLensi zokulungisa: Abantu abanengxaki yokubona kufuneka basebenzise iiglasi okanye iilensi zokunxibelelana.
• Izixhobo Zokuncedisa Ukuva: Ezi ziluncedo kakhulu kubantu abanengxaki yokuva.
• Unyango Lomzimba: Kucetyiswa ukuba kwenziwe umthambo ukuze kuqiniswe izihlunu ezijikeleze amalungu, kuphuculwe ukuhamba kwamalungu, kwaye kuncitshiswe iintlungu.
• Iipilisi zokunciphisa iintlungu: Ugqirha uza kunika amayeza afanelekileyo okulawula iintlungu zamalungu.
• Unyango lwamazinyo kunye nonyango lwamazinyo: Ukuba kukho naziphi na iingxaki ngokuma kwamazinyo, unyango lunokufuneka.

Ngaba kunokwenzeka ukuba uphile ubomi obuqhelekileyo xa unesi sifo?

Ewe, ngokuqinisekileyo. Nangona kungekho nyango loku, esi sifo asiyichaphazeli indlela umntu aphila ngayo. Eyona nto ibalulekileyo kukubona iimpawu kwangethuba, uziphathe kakuhle, kwaye uhlale unxibelelana nogqirha wakho rhoqo. Ukuba oko kuyenzeka, uninzi lwabantu lunokuphila ubomi obuqhelekileyo, obusebenzayo nobanelisayo.

Kuphantsi kweziphi iimeko apho kufuneka ubone ugqirha?

Ukuba wena okanye umntwana wakho unesi sifo, hlala ujonge ezi mpawu zilandelayo. Ukuba kukho naziphi na kwezi, bonana nogqirha wakho ngoko nangoko.

• Ukuba ufumana iintlungu eziqatha zamalungu .
• Ukuba ubona umbono ofiphele ngequbuliso, ukukhanya okukhanyayo, izinto ezidadayo, okanye izithunzi embonweni wakho, ezi zinokuba ziimpawu zokuqhekeka kwe-retina. Le yimeko efuna unyango olungxamisekileyo.
• Ukuba umntwana unengxaki yokutya okanye ukusela.
• Ukuba kukho igazi, ulwelo olufana nobovu oluvela kwindawo yotyando, okanye ukuba ludumbile okanye lubomvu (ezi ziimpawu zosulelo).
• Ukuba unengxaki yokuphefumla , yiya kwiSebe lezeMpilo eziNgxamisekileyo (ETU) elikufutshane ngokukhawuleza ngaphandle kokulibazisa.

Ukuba kukho umntu kusapho lwakho onesi sifo, kwaye uceba ukuba nomntwana, kubaluleke kakhulu ukuthetha nogqirha wakho malunga nokufumana iingcebiso ngemfuza.